Transferability of Type 2 Diabetes Implicated Loci in Multi-Ethnic Cohorts from Southeast Asia

Sim, Xueling; Ong, Rick Twee-Hee; Suo, Chen; Tay, Wan-Ting; Liu, Jianjun; Ng, Daniel Peng-Keat; Boehnke, Michael; Chia, Kee-Seng; Wong, Tien-Yin; Seielstad, Mark; Teo, Yik-Ying; Tai, E-Shyong

doi:10.1371/journal.pgen.1001363

Cited by 152Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and AnimalsDiabetes and associated disorders

Transferability of Type 2 Diabetes Implicated Loci in Multi-Ethnic Cohorts from Southeast Asia

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Sim, Xueling, Ong, Rick Twee-Hee, Suo, Chen, Tay, Wan-Ting, Liu, Jianjun, Ng, Daniel Peng-Keat, Boehnke, Michael, Chia, Kee-Seng +4 more·2011·PLoS Genetics

DOI 10.1371/journal.pgen.1001363PMC PMC3072366

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Abstract

Recent large genome-wide association studies (GWAS) have identified multiple loci which harbor genetic variants associated with type 2 diabetes mellitus (T2D), many of which encode proteins not previously suspected to be involved in the pathogenesis of T2D. Most GWAS for T2D have focused on populations of European descent, and GWAS conducted in other populations with different ancestry offer a unique opportunity to study the genetic architecture of T2D. We performed genome-wide association scans for T2D in 3,955 Chinese (2,010 cases, 1,945 controls), 2,034 Malays (794 cases, 1,240 controls), and 2,146 Asian Indians (977 cases, 1,169 controls). In addition to the search for novel variants implicated in T2D, these multi-ethnic cohorts serve to assess the transferability and relevance of the previous findings from European descent populations in the three major ethnic populations of Asia, comprising half of the world's population. Of the SNPs associated with T2D in previous GWAS, only variants at CDKAL1 and HHEX/IDE/KIF11 showed the strongest association with T2D in the meta-analysis including all three ethnic groups. However, consistent direction of effect was observed for many of the other SNPs in our study and in those carried out in European populations. Close examination of the associations at both the CDKAL1 and HHEX/IDE/KIF11 loci provided some evidence of locus and allelic heterogeneity in relation to the associations with T2D. We also detected variation in linkage disequilibrium between populations for most of these loci that have been previously identified. These factors, combined with limited statistical power, may contribute to the failure to detect associations across populations of diverse ethnicity. These findings highlight the value of surveying across diverse racial/ethnic groups towards the fine-mapping efforts for the casual variants and also of the search for variants, which may be population-specific.

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Under mutation-selection balance, different novel rare variants may have effects in each population, and fine mapping sometimes reveals subtle differences in association patterns.
“Under a mutation-selection balance model, it may be possible for different novel rare variants to have effects in each population, and fine mapping studies sometimes reveal subtle differences in the patterns of association [eg.67,68.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [67]

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Background
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Background
Large-Scale Association Studies of Variants in Genes Encoding the Pancreatic β-Cell KATP Channel Subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) Confirm That the KCNJ11 E23K Variant Is Associated With Type 2 Diabetes
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BackgroundSelf-citation
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Background
Implication of Genetic Variants Near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in Type 2 Diabetes and Obesity in 6,719 Asians
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Background
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Result
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Result
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Result
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BackgroundResultInfluential
Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population
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Result
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Method
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Method
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BackgroundResult
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BackgroundResult
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Result
Replication of Genome-Wide Association Studies of Type 2 Diabetes Susceptibility in Japan
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“Many of these studies, conducted in individuals of Han Chinese, Japanese, Asian Indians, exhibited replication for many of the index SNPs that emerged from the first wave of T2D GWAS [4–7] with consistent direction of effect [20,23–24,30–45].”
Result
Replication Study of Candidate Genes Associated With Type 2 Diabetes Based On Genome-Wide Screening
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Result
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The rs12255372(G/T) and rs7903146(C/T) polymorphisms of the TCF7L2 gene are associated with type 2 diabetes mellitus in Asian Indians
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Han, X., Luo, Y., Ren, Q., Zhang, X., Wang, F., Sun, X., Zhou, X., & Ji, L. (2010) · BMC Medical Genetics · doi:10.1186/1471-2350-11-81 · Cited by 124 · see citing works
Investigation of Type 2 Diabetes Risk Alleles Support CDKN2A/B, CDKAL1, and TCF7L2 As Susceptibility Genes in a Han Chinese Cohort
Wen, J., Rönn, T., Olsson, A., Yang, Z., Lu, B., Du, Y., Groop, L., Ling, C., & Ren-ming, H. (2010) · PLoS ONE · doi:10.1371/journal.pone.0009153 · Cited by 124 · cited 1× · see citing works
“Many of these studies, conducted in individuals of Han Chinese, Japanese, Asian Indians, exhibited replication for many of the index SNPs that emerged from the first wave of T2D GWAS [4–7] with consistent direction of effect [20,23–24,30–45].”
Result
Variations in KCNQ1 are associated with type 2 diabetes and beta cell function in a Chinese population
Hu, C., Wang, C., Zhang, R., Ma, X., Wang, J., Lu, J., Qin, W., Bao, Y., Xiang, K., & Jia, W. (2009) · Diabetologia · doi:10.1007/s00125-009-1335-6 · Cited by 123 · cited 1× · see citing works
“Of these, only the association at KCNQ1 has been extensively replicated [11,20–21,23–30].”
Background
Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations
Franks, P. W., Rolandsson, O., Debenham, S. L., Fawcett, K. A., Payne, F., Dina, C., Froguel, P., Mohlke, K. L., Willer, C. J., Olsson, T., et al. (2007) · Diabetologia · doi:10.1007/s00125-007-0887-6 · Cited by 115 · see citing works
Common Genetic Variation Near Melatonin Receptor MTNR1B Contributes to Raised Plasma Glucose and Increased Risk of Type 2 Diabetes Among Indian Asians and European Caucasians
Chambers, J. C., Zhang, W., Zabaneh, D., Sehmi, J., Jain, P., McCarthy, M. I., Froguel, P., Ruokonen, A., Balding, D. J., Järvelin, M., et al. (2009) · Diabetes · doi:10.2337/db08-1805 · Cited by 98 · see citing works
Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study)
Hertel, J. K., Johansson, S., Ræder, H., Midthjell, K., Lyssenko, V., Groop, L., Molven, A., & Njølstad, P. R. (2008) · Diabetologia · doi:10.1007/s00125-008-0982-3 · Cited by 97 · cited 1× · see citing works
“Many of these studies, conducted in individuals of Han Chinese, Japanese, Asian Indians, exhibited replication for many of the index SNPs that emerged from the first wave of T2D GWAS [4–7] with consistent direction of effect [20,23–24,30–45].”
Result
Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population
Lin, Y., Li, P., Li, C., Zhang, B., Tang, X., Zhang, X., Li, Y., Yang, X. Q., Yang, Y., Wang, L., et al. (2010) · BMC Medical Genetics · doi:10.1186/1471-2350-11-97 · Cited by 87 · cited 1× · see citing works
“Many of these studies, conducted in individuals of Han Chinese, Japanese, Asian Indians, exhibited replication for many of the index SNPs that emerged from the first wave of T2D GWAS [4–7] with consistent direction of effect [20,23–24,30–45].”
Result
Variants in KCNQ1 are associated with susceptibility to type 2 diabetes in the population of mainland China
Liu, Y., Zhou, D., Zhang, D., Chen, Z., Zhao, T., Zhang, Z., Ning, M., Hu, X., Yang, Y., Zhang, Z., et al. (2009) · Diabetologia · doi:10.1007/s00125-009-1375-y · Cited by 85 · cited 1× · see citing works
“Of these, only the association at KCNQ1 has been extensively replicated [11,20–21,23–30].”
Background
Genetic Variation in KCNQ1 Associates With Fasting Glucose andβ-Cell Function
Tan, J. T., Nurbaya, S., Gardner, D. S.-L., Ye, S., Tai, E. S., & Ng, D. P. K. (2009) · Diabetes · doi:10.2337/db08-1138 · Cited by 82 · cited 1× · see citing works
“Of these, only the association at KCNQ1 has been extensively replicated [11,20–21,23–30].”
BackgroundSelf-citation
Polymorphisms Identified through Genome-Wide Association Studies and Their Associations with Type 2 Diabetes in Chinese, Malays, and Asian-Indians in Singapore
Tan, J. T., Ng, D. P. K., Yaakub, S. N., Ye, S., Lim, X. L., Leong, H., Seet, L. T., Siew, W. F., Kon, W. Y. C., Wong, T. Y., et al. (2009) · Endocrine Reviews · doi:10.1210/edrv.30.7.9999 · Cited by 77 · see citing works
Self-citation
Polymorphisms Identified through Genome-Wide Association Studies and Their Associations with Type 2 Diabetes in Chinese, Malays, and Asian-Indians in Singapore
Tan, J. T., Ng, D. P. K., Yaakub, S. N., Ye, S., Lim, X. L., Leong, H., Seet, L. T., Siew, W. F., Kon, W. Y. C., Wong, T. Y., et al. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0688 · Cited by 76 · cited 1× · see citing works
“We have previously shown that SNPs associated with T2D in European populations also show similar associations in populations of Asian ethnicity [24].”
BackgroundSelf-citation
Variants of thePPARG,IGF2BP2,CDKAL1,HHEX, andTCF7L2Genes Confer Risk of Type 2 Diabetes Independently of BMI in the German KORA Studies
Herder, C., Rathmann, W., Straßburger, K., Finner, H., Grallert, H., Huth, C., Meisinger, C., Gieger, C., Martin, S., Giani, G., et al. (2008) · Hormone and Metabolic Research · doi:10.1055/s-2008-1078730 · Cited by 71 · cited 1× · see citing works
“Many of these studies, conducted in individuals of Han Chinese, Japanese, Asian Indians, exhibited replication for many of the index SNPs that emerged from the first wave of T2D GWAS [4–7] with consistent direction of effect [20,23–24,30–45].”
Result
Genome-wide comparisons of variation in linkage disequilibriumPreprint
Teo, Y. Y., Fry, A. E., Bhattacharya, K., Small, K. S., Kwiatkowski, D. P., & Clark, T. G. (2009) · Genome Research · doi:10.1101/gr.092189.109 · Cited by 70 · cited 1× · see citing works
“The varLD algorithm [64–65] was used to assess regional patterns of LD variation between two populations.”
MethodSelf-citation
Polymorphisms in the IDE-KIF11-HHEX Gene Locus Are Reproducibly Associated with Type 2 Diabetes in a Japanese Population
Furukawa, Y., Shimada, T., Furuta, H., Matsuno, S., Kusuyama, A., Doi, A., Nishi, M., Sasaki, H., Sanke, T., & Nanjo, K. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-1029 · Cited by 64 · cited 1× · see citing works
“Many of these studies, conducted in individuals of Han Chinese, Japanese, Asian Indians, exhibited replication for many of the index SNPs that emerged from the first wave of T2D GWAS [4–7] with consistent direction of effect [20,23–24,30–45].”
Result
varLD: a program for quantifying variation in linkage disequilibrium patterns between populations
Ong, R. T., & Teo, Y. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq125 · Cited by 59 · see citing works
Self-citation
Common variants in KCNQ1 are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population
Qi, Q., Li, H., Loos, R. J. F., Liu, C., Wu, Y., Hu, F. B., Wu, H., Lu, L., Yu, Z., & Xu, L. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp294 · Cited by 53 · cited 1× · see citing works
“Of these, only the association at KCNQ1 has been extensively replicated [11,20–21,23–30].”
Background
Positive association between variations in CDKAL1 and type 2 diabetes in Han Chinese individuals
Liu, Y., Yu, L., Zhang, D., Chen, Z., Zhou, D., Zhao, T., Li, S., Wang, T., Hu, X., Feng, G., et al. (2008) · Diabetologia · doi:10.1007/s00125-008-1141-6 · Cited by 45 · see citing works
Testing the association of novel meta-analysis-derived diabetes risk genes with type II diabetes and related metabolic traits in Asian Indian Sikhs
Sanghera, D. K., Been, L. F., Ortega, L., Wander, G. S., Mehra, N. K., Aston, C. E., Mulvihill, J. J., & Ralhan, S. K. (2009) · Journal of Human Genetics · doi:10.1038/jhg.2009.7 · Cited by 42 · cited 1× · see citing works
“However, replication efforts for the more recently identified SNPs have been less successful [32,46–48].”
Background
Replication study for the association of new meta-analysis-derived risk loci with susceptibility to type 2 diabetes in 6,244 Japanese individuals
Omori, S., Tanaka, Y., Horikoshi, M., Takahashi, A., Hara, K., Hirose, H., Kashiwagi, A., Kaku, K., Kawamori, R., Kadowaki, T., et al. (2009) · Diabetologia · doi:10.1007/s00125-009-1397-5 · Cited by 33 · see citing works
HHEX gene polymorphisms are associated with type 2 diabetes in the Dutch Breda cohort
van Vliet‐Ostaptchouk, J. V., Onland‐Moret, N. C., van Haeften, T. W., Franke, L., Elbers, C. C., Shiri‐Sverdlov, R., van der Schouw, Y. T., Hofker, M. H., & Wijmenga, C. (2008) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5202008 · Cited by 33 · see citing works
Lack of Significant Effects of the Type 2 Diabetes Susceptibility LociJAZF1,CDC123/CAMK1D,NOTCH2,ADAMTS9,THADA, andTSPAN8/LGR5on Diabetes and Quantitative Metabolic Traits
Schleinitz, D., Tönjes, A., Böttcher, Y., Dietrich, K., Enigk, B., Koriath, M., Scholz, G. H., Blüher, M., Zeggini, E., McCarthy, M. I., et al. (2009) · Hormone and Metabolic Research · doi:10.1055/s-0029-1233480 · Cited by 24 · see citing works
Variants in KCNQ1, AP3S1, MAN2A1, and ALDH7A1 and the risk of type 2 diabetes in the Chinese Northern Han population: a case-control study and meta-analysis.
Zhou, J., Yang, J., Zhao, L., & Xin, Z. (2010) · PubMed · Cited by 24 · see citing works

Flagged first, then by citations

Sorted by citations

Rare and common variants: twenty arguments
Gibson, G. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3118 · Cited by 1,278 · see citing works
The genetic architecture of type 2 diabetes
Fuchsberger, C., Flannick, J., Teslovich, T. M., Mahajan, A., Agarwala, V., Gaulton, K. J., Ma, C., Fontanillas, P., Moutsianas, L., McCarthy, D. J., et al. (2016) · Nature · doi:10.1038/nature18642 · Cited by 1,051 · see citing works
Self-citation
Genetics of Type 2 Diabetes—Pitfalls and Possibilities
Prasad, R., & Groop, L. (2015) · Genes · doi:10.3390/genes6010087 · Cited by 458 · see citing works
Atherosclerotic Cardiovascular Disease in South Asians in the United States: Epidemiology, Risk Factors, and Treatments: A Scientific Statement From the American Heart Association
Volgman, A. S., Palaniappan, L. S., Aggarwal, N. T., Gupta, M., Khandelwal, A., Krishnan, A. V., Lichtman, J. H., Mehta, L. S., Patel, H. N., Shah, K. S., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000580 · Cited by 552 · see citing works
Epidemiology and determinants of type 2 diabetes in south Asia
Hills, A. P., Arena, R., Khunti, K., Yajnik, C. S., Jayawardena, R., Henry, C. J., Street, S. J., Soares, M. J., & Misra, A. (2018) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(18)30204-3 · Cited by 290 · see citing works
Forecasting the burden of type 2 diabetes in Singapore using a demographic epidemiological model of Singapore
Phan, T. P., Alkema, L., Tai, E. S., Tan, K. H. X., Yang, Q., Lim, W., Teo, Y. Y., Cheng, C., Wang, X., Wong, T. Y., et al. (2014) · BMJ Open Diabetes Research & Care · doi:10.1136/bmjdrc-2013-000012 · Cited by 190 · see citing works
Self-citation
Genome-Wide Association Study for Type 2 Diabetes in Indians Identifies a New Susceptibility Locus at 2q21
Tabassum, R., Chauhan, G., Dwivedi, O. P., Mahajan, A., Jaiswal, A., Kaur, I., Bandesh, K., Singh, T., Mathai, B. J., Pandey, Y., et al. (2012) · Diabetes · doi:10.2337/db12-0406 · Cited by 182 · see citing works
“Although GWAS have greatly improved our understanding of the genetic basis of T2D, most of these studies have been performed in Europeans (9), and the studies involving South Asians are very limited (7,10).”
Background
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis
Lin, Z., Bei, J., Shen, M., Li, Q., Liao, Z., Zhang, Y., Lv, Q., Wei, Q., Low, H.-Q., Guo, Y., et al. (2011) · Nature Genetics · doi:10.1038/ng.1005 · Cited by 165 · see citing works
Self-citation
Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error
Cheng, C., Schäche, M., Ikram, M. K., Young, T. L., Guggenheim, J. A., Vitart, V., MacGregor, S., Verhoeven, V. J. M., Barathi, V. A., Liao, J., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.06.016 · Cited by 160 · see citing works
Self-citation
A Form of the Metabolic Syndrome Associated with Mutations in DYRK1B
Keramati, A. R., Fathzadeh, M., Go, G., Singh, R., Choi, M., Faramarzi, S., Mane, S., Kasaei, M. M., Sarajzadeh, K., Hwa, J., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1301824 · Cited by 155 · see citing works
Epidemiology of Diabetes and Atherosclerotic Cardiovascular Disease Among Asian American Adults: Implications, Management, and Future Directions: A Scientific Statement From the American Heart Association
Kwan, T., Wong, S. S., Hong, Y., Kanaya, A. M., Khan, S. S., Hayman, L. L., Shah, S. H., Welty, F. K., DEEDWANIA, P. C., Khaliq, A., et al. (2023) · Circulation · doi:10.1161/cir.0000000000001145 · Cited by 139 · see citing works
Insights into pancreatic islet cell dysfunction from type 2 diabetes mellitus genetics
Krentz, N. A. J., & Gloyn, A. L. (2020) · Nature Reviews Endocrinology · doi:10.1038/s41574-020-0325-0 · Cited by 128 · see citing works
Genetic Variants on Chromosome 1q41 Influence Ocular Axial Length and High Myopia
Fan, Q., Barathi, V. A., Cheng, C., Zhou, X., Meguro, A., Nakata, I., Khor, C. C., Goh, L.-K., Li, Y., Lim, W., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002753 · Cited by 116 · see citing works
“For SiMES Malays, we also excluded the samples falling in the main clusters of PCA plots of the Chinese and Indians ethnic groups, as described in the previous study [68].”
MethodSelf-citation
ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response
Adeyemo, A., Zaghloul, N. A., Chen, G., Doumatey, A. P., Leitch, C. C., Hostelley, T. L., Nesmith, J. E., Zhou, J., Bentley, A. R., Shriner, D., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-10967-7 · Cited by 116 · see citing works
Trans-Ethnic Fine-Mapping of Lipid Loci Identifies Population-Specific Signals and Allelic Heterogeneity That Increases the Trait Variance Explained
Wu, Y., Waite, L. L., Jackson, A., Sheu, W. H., Buyske, S. G., Absher, D., Arnett, D. K., Boerwinkle, E., Bonnycastle, L. L., Carty, C. L., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003379 · Cited by 111 · see citing works
“Recently GWAS have identified more than one independent signal at loci associated with coronary artery disease [11] and type 2 diabetes [12,13].”
BackgroundSelf-citation
Challenges in Elucidating the Genetics of Diabetic Retinopathy
Kuo, J. Z.-C., Wong, T. Y., & Rotter, J. I. (2013) · JAMA Ophthalmology · doi:10.1001/jamaophthalmol.2013.5024 · Cited by 109 · see citing works
Self-citation
Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans
Chen, G., Bentley, A. R., Adeyemo, A., Shriner, D., Zhou, J., Doumatey, A. P., Huang, H., Ramos, E., Erdos, M. R., Gerry, N. P., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds282 · Cited by 83 · see citing works
Epigenetics in Sports
Ehlert, T., Simon, P. D., & Moser, D. (2013) · Sports Medicine · doi:10.1007/s40279-012-0012-y · Cited by 79 · see citing works
“over-represented SNPs in thousands of type 2 diabetics from different ethnic populations [40–48].”
Background
Gene loci associated with insulin secretion in islets from nondiabetic mice
Keller, M. P., Rabaglia, M. E., Schueler, K. L., Stapleton, D. S., Gatti, D. M., Vincent, M. J., Mitok, K. A., Wang, Z., Ishimura, T., Simonett, S. P., et al. (2019) · Journal of Clinical Investigation · doi:10.1172/jci129143 · Cited by 77 · see citing works
“A SNP near the HUNK gene is associated with type 2 diabetes in multi-ethnic cohorts from Southeast Asia (1).”
Functional loss of Cdkal1, a novel tRNA modification enzyme, causes the development of type 2 diabetes [Review]
Wei, F., & Tomizawa, K. (2011) · Endocrine Journal · doi:10.1507/endocrj.ej11-0099 · Cited by 74 · see citing works
Comparing methods for performing trans-ethnic meta-analysis of genome-wide association studies
Wang, X., Chua, H.-X., Chen, P., Ong, R. T., Sim, X., Zhang, W., Takeuchi, F., Liu, X., Khor, C. C., Tay, W.-T., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt064 · Cited by 70 · see citing works
“Japan: This consists of a T2D study across 931 cases and 1404 controls sampled from four regions in Tokyo that have been genotyped on the Illumina HumanHap 550 BeadChip (13); SCES: The Singapore Chinese Eye Study included 302 T2D cases and 1089 controls, out of a total of 1952 Chinese subjects that have been genotyped…”
MethodSelf-citation
European genetic variants associated with type 2 diabetes in North African Arabs
Cauchi, S., Ezzidi, I., Achhab, Y. E., Mtiraoui, N., Chaïeb, L., Salah, D., Nejjari, C., Labrune, Y., Yengo, L., Beury, D., et al. (2012) · Diabetes & Metabolism · doi:10.1016/j.diabet.2012.02.003 · Cited by 68 · see citing works
Multi-ethnic studies in complex traits
Fu, J., Festen, E. A. M., & Wijmenga, C. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr386 · Cited by 68 · see citing works
“(9) concluded that there is considerable locus and allelic heterogeneity in T2D association between populations.”
Background
Genetic Determinants of Age-Related Macular Degeneration in Diverse Populations From the PAGE Study
Restrepo, N. A., Spencer, K. L., Goodloe, R., Garrett, T. A., HEISS, G. M., kova, P. B., Jorgensen, N. W., Jensen, R. A., Matise, T. C., Hindorff, L. A., et al. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.14-14246 · Cited by 66 · see citing works
“Genotyping details have been published elsewhere.(52) Genotyping methods with SiMES followed those of the SP2 cohort as previously described.”
MethodSelf-citation
Transferability and Fine Mapping of Type 2 Diabetes Loci in African Americans
Ng, M. C. Y., Saxena, R., Li, J., Palmer, N. D., Dimitrov, L., Xu, J., Rasmussen-Torvik, L. J., Zmuda, J. M., Siscovick, D. S., Patel, S. R., et al. (2013) · Diabetes · doi:10.2337/db12-0266 · Cited by 62 · see citing works
“The reported index single nucleotide polymorphisms (SNPs) at these loci have been replicated in multiple populations (22 – 24) but less successfully in AfA (25 – 27).”
Insights into the genetic basis of type 2 diabetes
Kato, N. (2013) · Journal of Diabetes Investigation · doi:10.1111/jdi.12067 · Cited by 53 · see citing works
The genetic case for cardiorespiratory fitness as a clinical vital sign and the routine prescription of physical activity in healthcare
Hanscombe, K. B., Persyn, E., Traylor, M., Glanville, K. P., Hamer, M., Coleman, J. R. I., & Lewis, C. M. (2021) · Genome Medicine · doi:10.1186/s13073-021-00994-9 · Cited by 53 · see citing works
“trocardiography [60], diastolic blood pressure [61] and diabetes mellitus [62].”
Background
An extended genome-wide association study identifies novel susceptibility loci for nasopharyngeal carcinoma
Cui, Q., Feng, Q.-S., Mo, H., Sun, J., Xia, Y.-F., Zhang, H., Foo, J. N., Guo, Y., Chen, L.-Z., Li, M., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw200 · Cited by 53 · see citing works
Self-citation
Genetic Variation in CDH13 Is Associated With Lower Plasma Adiponectin Levels but Greater Adiponectin Sensitivity in East Asian Populations
Gao, H., Kim, Y., Chen, P., Igase, M., Kawamoto, R., Kim, M. K., Kohara, K., Lee, J., Miki, T., Ong, R. T., et al. (2013) · Diabetes · doi:10.2337/db13-0129 · Cited by 52 · see citing works
Self-citation
Genome-wide Association Studies of Retinal Vessel Tortuosity Identify Numerous Novel Loci Revealing Genes and Pathways Associated With Ocular and Cardiometabolic Diseases
Tomasoni, M., Beyeler, M. J., Vela, S. O., Mounier, N., Porcu, E., Corre, T., Krefl, D., Button, A. L., Abouzeid, H., Konstantinidis, L., et al. (2023) · Ophthalmology Science · doi:10.1016/j.xops.2023.100288 · Cited by 47 · see citing works
Nonsynonymous Variants in PAX4 and GLP1R Are Associated With Type 2 Diabetes in an East Asian Population
Kwak, S. H., Chae, J., Lee, S., Choi, S., Koo, B. K., Yoon, J. W., Park, J., Cho, B., Moon, M. K., Lim, S. K., et al. (2018) · Diabetes · doi:10.2337/db18-0361 · Cited by 49 · see citing works
“In addition, the haplotype structure of certain risk loci and variant allele frequency are different among populations (6,7).”
Background
The Architecture of Risk for Type 2 Diabetes: Understanding Asia in the Context of Global Findings
Abdullah, N., Attia, J., Oldmeadow, C. J., Scott, R. J., & Holliday, E. G. (2014) · International Journal of Endocrinology · doi:10.1155/2014/593982 · Cited by 47 · see citing works
“Chinese [117, 145, 146], African-American [121, 147, 148], Southeast Asian [124], Hispanic [149], Mexican-American [150], South Asian [92], Indo-European [151], and Indian Punjabi Sikh [152].”
BackgroundInfluential
A comparison of type 2 diabetes risk allele load between African Americans and European Americans
Keaton, J. M., Bailey, J. N. C., Palmer, N. D., Freedman, B. I., Langefeld, C. D., Ng, M. C. Y., & Bowden, D. W. (2014) · Human Genetics · doi:10.1007/s00439-014-1486-5 · Cited by 47 · see citing works
“We selected SNPs from T2D risk loci with prior evidence of association (p < 5 × 10−8) in GWAS of European, African American and other ethnicities (Steinthorsdottir et al. 2007; Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical Research et al. 200…”
Method
Projection of prediabetes and diabetes population size in Singapore using a dynamic Markov model
Wong, L. Y., Toh, M. P. H. S., & Tham, L. (2016) · Journal of Diabetes · doi:10.1111/1753-0407.12384 · Cited by 46 · see citing works
The type 2 diabetes-associated HMG20A gene is mandatory for islet beta cell functional maturity
Mellado‐Gil, J. M., Fuente-Martín, E., Lorenzo, P. I., Cobo‐Vuilleumier, N., López–Noriega, L., Martín‐Montalvo, A., Herrera-Gómez, I. D. G., Ceballos-Chávez, M., Gómez-Jaramillo, L., Campos‐Caro, A., et al. (2018) · Cell Death and Disease · doi:10.1038/s41419-018-0272-z · Cited by 43 · see citing works
“We find that: (1) HMG20A is expressed in pancreatic islet beta cells, (2) HMG20A levels are decreased in T2DM islets, (3) high glucose stimulates HMG20A expression, (4) the T2DM-associated SNP within the 3′ UTR of the HMG20A transcript decreases luciferase activity, (5) HMG20A regulates key genes in beta cell function…”
Background
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women’s Health Initiative SHARe Study
Edwards, D. R. V., Naj, A. C., Monda, K. L., North, K. E., Neuhouser, M. L., Magvanjav, O., Kusimo, I., Vitolins, M. Z., Manson, J. E., O’Sullivan, M. J., et al. (2012) · Human Genetics · doi:10.1007/s00439-012-1246-3 · Cited by 45 · see citing works
“Variation in ZPLD1 has been nominally associated with type 2 diabetes in Southeast Asians (Sim et al., 2011).”
Background
Identification of a splicing variant that regulates type 2 diabetes risk factor CDKAL1 level by a coding-independent mechanism in human
Zhou, B., Wei, F., Kanai, N., Fujimura, A., Kaitsuka, T., & Tomizawa, K. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu184 · Cited by 45 · see citing works
“Twelve SNPs in CDKAL1, including the three SNPs examined in the present study, have been associated with T2D [rs4712523 (23); rs4712524 (13); rs10440833 (24); rs6931514 (25); rs9465871 (26); rs9295474 (27); rs9356744, rs7773318, rs9465994 (28)].”
Evaluation of type 2 diabetes genetic risk variants in Chinese adults: findings from 93,000 individuals from the China Kadoorie Biobank
on behalf of the China Kadoorie Biobank Collaborative Group, Gan, W., Walters, R. G., Holmes, M. V., Bragg, F., Millwood, I. Y., Banasik, K., Chen, Y., Du, H., Iona, A., et al. (2016) · Diabetologia · doi:10.1007/s00125-016-3920-9 · Cited by 45 · see citing works
“Previous studies have reported that the majority of common variants are shared across different ethnic groups [24, 30, 47, 48].”
Background
A genetic analysis identifies a haplotype at adiponectin locus: Association with obesity and type 2 diabetes
Palit, S. P., Patel, R., Jadeja, S. D., RATHWA, N. N., Mahajan, A., Ramachandran, A. V., Dhar, M. K., Sharma, S., & Begum, R. (2020) · Scientific Reports · doi:10.1038/s41598-020-59845-z · Cited by 44 · see citing works
Pathways-Driven Sparse Regression Identifies Pathways and Genes Associated with High-Density Lipoprotein Cholesterol in Two Asian Cohorts
Silver, M. J., Chen, P., Li, R.-Y., Cheng, C.-Y., Wong, T., Tai, E., Teo, Y. Y., & Montana, G. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003939 · Cited by 44 · see citing works
“after first round of quality control [52] and removal of monomorphic SNPs.”
BackgroundMethodInfluentialSelf-citation
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium
Li, Q., Wojciechowski, R., Simpson, C. L., Hysi, P. G., Verhoeven, V. J. M., Ikram, M. K., Höhn, R., Vitart, V., Hewitt, A. W., Oexle, K., et al. (2014) · Human Genetics · doi:10.1007/s00439-014-1500-y · Cited by 38 · see citing works
Self-citation
APOC3 genetic variation, serum triglycerides, and risk of coronary artery disease in Asian Indians, Europeans, and other ethnic groups
Goyal, S., Tanigawa, Y., Zhang, W., Chai, J. F., Almeida, M., Sim, X., Lerner, M. R., Chainakul, J., Ramiu, J. G., Seraphin, C., et al. (2021) · Lipids in Health and Disease · doi:10.1186/s12944-021-01531-8 · Cited by 39 · see citing works
Self-citation
Genome-wide association study identifies a missense variant at APOA5 for coronary artery disease in Multi-Ethnic Cohorts from Southeast Asia
Han, Y. Y., Dorajoo, R., Chang, X., Wang, L., Khor, C. C., Sim, X., Cheng, C., Shi, Y., Tham, Y. C., Zhao, W., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-18214-z · Cited by 37 · see citing works
Self-citation
Using Full Genomic Information to Predict Disease: Breaking Down the Barriers Between Complex and Mendelian Diseases
Jordan, D. M., & Do, R. (2018) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083117-021136 · Cited by 35 · see citing works
“Several examples exist of GWAS loci discovered in European cohorts failing to replicate in trans-ethnic cohorts or of trans-ethnic GWASs explaining less variance than GWASs performed on an ethnically homogeneous population (22, 38, 43, 61).”
Background
Dissection of type 2 diabetes: a genetic perspective
Bonnefond, A., Florez, J. C., Loos, R. J. F., & Froguel, P. (2025) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(24)00339-5 · Cited by 40 · see citing works
Genome-wide association study for radiographic vertebral fractures: A potential role for the 16q24 BMD locus
Oei, L., Estrada, K., Duncan, E. L., Christiansen, C., Liu, C., Langdahl, B. L., Obermayer-Pietsch, B. M., Riancho, J. A., Prince, R. L., van Schoor, N. M., et al. (2013) · Bone · doi:10.1016/j.bone.2013.10.015 · Cited by 36 · see citing works
“When the linkage disequilibrium structure in the region differs across populations this may result in decreased power and lack of replication [74–77].”
Background
Investigation on Cardiovascular Risk Prediction Using Genetic Information
Pu, L., Zhao, Z., & Zhang, Y. (2012) · IEEE Transactions on Information Technology in Biomedicine · doi:10.1109/titb.2012.2205009 · Cited by 36 · see citing works
Does genetic heterogeneity account for the divergent risk of type 2 diabetes in South Asian and white European populations?
Sohani, Z. N., Deng, W. Q., Paré, G., Meyre, D., Gerstein, H. C., & Anand, S. S. (2014) · Diabetologia · doi:10.1007/s00125-014-3354-1 · Cited by 34 · see citing works
“Four GWAS have been conducted in South Asians [14–17], which collectively identified nine SNPs ( p<5×10).”
Influential
SgD-CNV, a database for common and rare copy number variants in three Asian populations
Xu, H., Poh, W.-T., Sim, X., Ong, R. T., Suo, C., Tay, W.-T., Khor, C. C., Seielstad, M. T., Liu, J., Aung, T., et al. (2011) · Human Mutation · doi:10.1002/humu.21601 · Cited by 33 · see citing works
Self-citation
Association Analysis of Genetic Variants with Type 2 Diabetes in a Mongolian Population in China
Bai, H., Liu, H., Suyalatu, S., Guo, X., Chu, S., Chen, Y., Lan, T., Borjigin, B., Orlov, Y. L., Posukh, O. L., et al. (2015) · Journal of Diabetes Research · doi:10.1155/2015/613236 · Cited by 33 · see citing works
“SNPs found to be associated with T2D in Asian populations, rs1048886 (C6orf57) [5], rs4402960 (IGF2BP2) [28], rs5015480 (HHEX, IDE), rs1359790 (SPRY2) [29], rs1552224 (CENTD2), rs3923113 (GRB14), rs5215 (KCNJ11), rs7903146 (TCF7L2) [6], rs10886471 (GRK5), and rs7403531 (RASGRP1) [30], were not replicated in our study.”
Background
Association of melatonin & MTNR1B variants with type 2 diabetes in Gujarat population
Patel, R., RATHWA, N. N., Palit, S. P., Ramachandran, A. V., & Begum, R. (2018) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2018.04.058 · Cited by 32 · see citing works
Trans-ethnic fine mapping identifies a novel independent locus at the 3′ end of CDKAL1 and novel variants of several susceptibility loci for type 2 diabetes in a Han Chinese population
Kuo, J. Z.-C., Sheu, W. H., Assimes, T. L., Hung, Y., Absher, D., Chiu, Y., Mak, J. T., Wang, J., Kwon, S., Hsu, C., et al. (2013) · Diabetologia · doi:10.1007/s00125-013-3047-1 · Cited by 31 · see citing works
“05, which followed the αs used in an earlier trans-ethnic study of type 2 diabetes mellitus [11].”
BackgroundMethodResult
Genetic variants of tumor necrosis factor-α and its levels: A correlation with dyslipidemia and type 2 diabetes susceptibility
Patel, R., Palit, S. P., RATHWA, N. N., Ramachandran, A. V., & Begum, R. (2018) · Clinical Nutrition · doi:10.1016/j.clnu.2018.06.962 · Cited by 30 · see citing works
Genetic Risk Factors for Type 2 Diabetes: Insights from the Emerging Genomic Evidence
Ntzani, E., & Kavvoura, F. K. (2012) · Current Vascular Pharmacology · doi:10.2174/157016112799305030 · Cited by 29 · see citing works
A Common Susceptibility Gene for Type 2 Diabetes Is Associated with Drug Response to a DPP-4 Inhibitor: Pharmacogenomic Cohort in Okinawa Japan
Osada, U. N., Sunagawa, H., Terauchi, Y., & Ueda, S. (2016) · PLoS ONE · doi:10.1371/journal.pone.0154821 · Cited by 29 · see citing works
“Both of these pathways may be hampered in carriers of CDKAL1 risk variants, in which actually impaired insulin secretion is reported [18][19][8][20].”
Background
The combined effect of the T2DM susceptibility genes is an important risk factor for T2DM in non-obese Japanese: a population based case-control study
Yamakawa‐Kobayashi, K., Natsume, M., Aoki, S., Nakano, S., Inamori, T., Kasezawa, N., & Goda, T. (2012) · BMC Medical Genetics · doi:10.1186/1471-2350-13-11 · Cited by 27 · see citing works
“Furthermore, additional GWAS for Japanese and Chinese populations were performed and new susceptibility loci were detected [24-28], some of which have also been confirmed in Caucasians as well as Asian populations [24,25,29].”
Background
Association of Type 2 Diabetes Susceptibility Loci With One‐Year Weight Loss in the Look AHEAD Clinical Trial
Peter, I., McCaffery, J. M., Kelley-Hedgepeth, A., Hakonarson, H. H., Reís, S. E., Wagenknecht, L. E., Kopin, A. S., Huggins, G. S., & Study, F. T. G. S. O. T. L. A. (2012) · Obesity · doi:10.1038/oby.2012.11 · Cited by 27 · see citing works
Replication of newly identified type 2 diabetes susceptible loci in Northwest Indian population
Sharma, V., Sharma, I., Sethi, I., Mahajan, A., Singh, G., Angural, A., Bhanwer, A. J. S., Dhar, M. K., Singh, V., Rai, E., et al. (2017) · Diabetes Research and Clinical Practice · doi:10.1016/j.diabres.2017.02.013 · Cited by 26 · see citing works
Associations with metabolites in Chinese suggest new metabolic roles in Alzheimer’s and Parkinson’s diseases
Chai, J. F., Raichur, S., Khor, I. W., Torta, F. T., Chew, W. S., Herr, D. R., Ching, J., Kovalik, J. P., Khoo, C. M., Wenk, M. R., et al. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz246 · Cited by 25 · see citing works
Self-citation
Interactome-transcriptome analysis discovers signatures complementary to GWAS Loci of Type 2 Diabetes
Li, J., Lee, H. M., Wang, Y., Tong, A. H.-Y., Yip, K. Y.-L., Tsui, S. K., Lok, S., Ozaki, R., Luk, A. O. Y., Kong, A. P. S., et al. (2016) · Scientific Reports · doi:10.1038/srep35228 · Cited by 24 · see citing works
“Asian GWAS datasets, we noted that rs7636 , a synonymous SNP within Acetylcholinesterase ( AChE ), exhibited genome-wide significance for T2D in Asian but not Caucasian populations with an odd ratios of 1.85 (95% CI: 1.42–2.41, p : 5.00E-6) 39 .”
Influential
Abdominal obesity and incident cardio-metabolic disorders in Asian-Indians: A 10-years prospective cohort study
Jayant, S. S., Gupta, R., Rastogi, A., Agrawal, K., Sachdeva, N. K., Ram, S., Dutta, P. R., Bhadada, S. K., & Bhansali, A. K. (2022) · Diabetes & Metabolic Syndrome Clinical Research & Reviews · doi:10.1016/j.dsx.2022.102418 · Cited by 23 · see citing works
Common and Distinct Genetic Architecture of Age at Diagnosis of Diabetes in South Indian and European Populations
Srinivasan, S., Liju, S., Sathish, N., Siddiqui, M. K., Anjana, R. M., Pearson, E. R., Doney, A. S. F., Mohan, V., Radha, V., & Palmer, C. N. A. (2023) · Diabetes Care · doi:10.2337/dc23-0243 · Cited by 23 · see citing works
Transferability and fine-mapping of glucose and insulin quantitative trait loci across populations: CARe, the Candidate Gene Association Resource
Liu, C.-T., Ng, M., Rybin, D., Adeyemo, A., Bielinski, S., Boerwinkle, E., Borecki, I., Cade, B., Chen, Y.-D.-I., Djoussé, L., et al. (2012) · Diabetologia · doi:10.1007/s00125-012-2656-4 · Cited by 24 · see citing works
Relevance of the dietary glycemic index, glycemic load and genetic predisposition for the glucose homeostasis of Chinese adults without diabetes
Cheng, G., Xue, H., Luo, J. M., Jia, H., Zhang, L., Dai, J., & Buyken, A. E. (2017) · Scientific Reports · doi:10.1038/s41598-017-00453-9 · Cited by 23 · see citing works
Comparative Genome of GK and Wistar Rats Reveals Genetic Basis of Type 2 Diabetes
Liu, T., Li, H., Ding, G., Wang, Z., Chen, Y., Liu, L., Li, Y., & Li, Y. (2015) · PLoS ONE · doi:10.1371/journal.pone.0141859 · Cited by 23 · see citing works
Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms
Horikoshi, M., Pasquali, L., Wiltshire, S., Huyghe, J. R., Mahajan, A., Asimit, J. L., Ferreira, T. C., Locke, A. E., Robertson, N. R., Wang, X., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw048 · Cited by 23 · see citing works
Self-citation
Genetic Approaches to the Study of Gene Variants and Their Impact on the Pathophysiology of Type 2 Diabetes
Szabó, M. I., Máté, B., Csép, K., & Benedek, T. (2017) · Biochemical Genetics · doi:10.1007/s10528-017-9827-4 · Cited by 22 · see citing works
Genetic Information and the Prediction of Incident Type 2 Diabetes in a High-Risk Multiethnic Population
Anand, S. S., Meyre, D., Paré, G., Bailey, S. D., Xie, C., Zhang, X., Montpetit, A., Desai, D., Bosch, J., Mohan, V., et al. (2013) · Diabetes Care · doi:10.2337/dc12-2553 · Cited by 22 · see citing works
“Other investigators have evaluated T2DM genetic associations across multiple ethnicities with conflicting results, possibly attributable to limited statistical power, allelic heterogeneity, or linkage disequilibrium differences (20,21).”
The E3 ubiquitin ligase MARCH1 regulates glucose-tolerance and lipid storage in a sex-specific manner
Bhagwandin, C., Ashbeck, E. L., Whalen, M. B., Bandola-Simon, J. M., Roche, P. A., Szajman, A., Truong, S. M., Wertheim, B. C., Klimentidis, Y. C., Ishido, S., et al. (2018) · PLoS ONE · doi:10.1371/journal.pone.0204898 · Cited by 22 · see citing works
Efficiency of trans-ethnic genome-wide meta-analysis and fine-mapping
Ong, R. T., Wang, X., Liu, X., & Teo, Y. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.88 · Cited by 20 · see citing works
Self-citation
Predictive utility of a genetic risk score of common variants associated with type 2 diabetes in a black South African population
Chikowore, T., van Zyl, T., Feskens, E. J. M., & Conradie, K. R. (2016) · Diabetes Research and Clinical Practice · doi:10.1016/j.diabres.2016.09.019 · Cited by 19 · see citing works
CDKAL1 and HHEX are associated with type 2 diabetes‐related traits among Y up'ik people (在尤皮克人群中CDKAL1和HHEX与2型糖尿病相关特征有关)
Klimentidis, Y. C., Lemas, D. J., Wiener, H. W., O’Brien, D. M., Havel, P. J., Stanhope, K. L., Hopkins, S. E., Tiwari, H. K., & Boyer, B. B. (2013) · Journal of Diabetes · doi:10.1111/1753-0407.12093 · Cited by 19 · see citing works
“Both CDKAL1 and HHEX variants were strongly associated with T2D and insulin secretion in several south-east Asian cohorts and among Pima Indians, respectively.(47,48) Our finding that the risk allele for the HHEX SNP as identified in GWAS corresponds to the “protective” allele in this sample is not uncommon in genetic…”
Background
Studying the Genetics of Complex Disease With Ancestry‐Specific Human Phenotype Networks: The Case of Type 2 Diabetes in East Asian Populations
Qiu, J., Moore, J. H., & Darabos, C. (2016) · Genetic Epidemiology · doi:10.1002/gepi.21964 · Cited by 18 · see citing works
“E-mail: JHMoore@upenn.edu developing countries and 20% in developed countries by 2030 [Shaw et al., 2010; Zhao et al., 2012].”
Background
Dissecting the Brain/Islet Axis in Metabesity
Fuente-Martín, E., Mellado‐Gil, J. M., Cobo‐Vuilleumier, N., Martín‐Montalvo, A., Romero‐Zerbo, S., Contreras, I. D., Hmadcha, A., Soria, B., Bermudo, F. M., Reyes, J. C., et al. (2019) · Genes · doi:10.3390/genes10050350 · Cited by 17 · see citing works
Hints of Unique Genetic Effects for Type 2 Diabetes in India
Holliday, E. G. (2013) · Diabetes · doi:10.2337/db12-1836 · Cited by 17 · see citing works
A statistical method for region-based meta-analysis of genome-wide association studies in genetically diverse populations
Wang, X., Liu, X., Sim, X., Xu, H., Khor, C. C., Ong, R. T., Tay, W.-T., Suo, C., Poh, W.-T., Ng, D. P. K., et al. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.219 · Cited by 16 · see citing works
Self-citation
Ribosomal biogenesis regulator DIMT1 controls β-cell protein synthesis, mitochondrial function, and insulin secretion
Verma, G., Bowen, A., Gheibi, S., Hamilton, A., Muthukumar, S., Cataldo, L. R., Asplund, O., Esguerra, J. L. S., Karagiannopoulos, A., Lyons, C., et al. (2022) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2022.101692 · Cited by 16 · see citing works
Genetic Determinants of Type 2 Diabetes in Asians
Qi, Q., Wang, X., Strizich, G., & Wang, T. (2015) · International Journal of Diabetology & Vascular Disease Research · doi:10.19070/2328-353x-si01001 · Cited by 16 · see citing works
“In addition, a GWAS of T2D in multi-ethnic cohorts from Southeast Asia (including Chinese, Malays and Asian Indians) observed consistent direction of effect for many T2D SNPs identified in European populations [85].”
Background
Joint Effects of Known Type 2 Diabetes Susceptibility Loci in Genome-Wide Association Study of Singapore Chinese: The Singapore Chinese Health Study
Chen, Z., Pereira, M. A., Seielstad, M. T., Koh, W., Tai, E. S., Teo, Y.-Y., Liu, J., Hsu, C., Wang, R., Odegaard, A., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0087762 · Cited by 15 · see citing works
“Since 2007, genomewide association studies (GWAS) have reported at least 57 additional thoroughly replicated genetic susceptibility loci harboring common variants for T2D [38–57].”
BackgroundSelf-citation
Type 2 Diabetes Risk Allele UBE2E2 Is Associated With Decreased Glucose-Stimulated Insulin Release in Elderly Chinese Han Individuals
Xu, K., Jiang, L., Zhang, M., Zheng, X., Gu, Y., Wang, Z., Cai, Y., Dai, H., Shi, Y., Zheng, S., et al. (2016) · Medicine · doi:10.1097/md.0000000000003604 · Cited by 15 · see citing works
Genome-wide meta-analysis associates GPSM1 with type 2 diabetes, a plausible gene involved in skeletal muscle function
Ding, Q., Tan, A. L. M., Parra, E. J., Cruz, M., Sim, X., Teo, Y., Long, J., AlSafar, H. S., Petretto, E. G., Tai, E. S., et al. (2020) · Journal of Human Genetics · doi:10.1038/s10038-019-0720-3 · Cited by 14 · see citing works
“…0.586 Mexico City 2 2016 Mexico Mexican 140 448 306 166 415 306 0.592 0.578 Scott et al. 2007 Finland European 41 808 311 36 854 283 0.616 0.605 Sim et al. 2011 China Asian 190 864 907 255 852 833 0.666 0.647 correlation with serum glucose and insulin level across obese mice samples (r= 0.77…”
MethodInfluentialSelf-citation
The New Perspectives on Genetic Studies of Type 2 Diabetes and Thyroid Diseases
Xu, M., Bi, Y., Cui, B., Hong, J., Wang, W., & Ning, G. (2013) · Current Genomics · doi:10.2174/138920213804999138 · Cited by 14 · see citing works
“Since the first GWAS, the number of susceptibility loci for T2D has grown up to more than 50 (Table 1) [22-45].”
Background
Common Variants Associated with Type 2 Diabetes in a Black South African Population of Setswana Descent: African Populations Diverge
Chikowore, T., Conradie, K. R., Towers, G. W., & van Zyl, T. (2015) · OMICS A Journal of Integrative Biology · doi:10.1089/omi.2015.0116 · Cited by 13 · see citing works
Improved detection of genetic loci in estimated glomerular filtration rate and type 2 diabetes using a pleiotropic cFDR method
Liu, H., He, J., Zhang, Q., Lv, W., Xia, X., Sun, C., Zhang, W., & Deng, H. (2017) · Molecular Genetics and Genomics · doi:10.1007/s00438-017-1381-6 · Cited by 13 · see citing works
“Another subset of 13 SNPs had not been reported to be associated with T2D but their annotated genes were mentioned as T2D associated in previous studies (details in the Supplementary Table S6) (Sim et al. 2011; Voight et al. 2011; Mahajan et al. 2014; Cook and Morris 2016).”
Admixture mapping and fine-mapping of type 2 diabetes susceptibility loci in African American women
Uribe‐Salazar, J. M., Palmer, J. R., Haddad, S. A., Rosenberg, L. A., & Ruiz-Narváez, E. (2018) · Journal of Human Genetics · doi:10.1038/s10038-018-0503-2 · Cited by 13 · see citing works
Genetic Associations of Type 2 Diabetes with Islet Amyloid Polypeptide Processing and Degrading Pathways in Asian Populations
Lam, V. K. L., Ronald, C. W., Lee, H. M., Hu, C., Park, K. S., Furuta, H., Wang, Y., Tam, C. H. T., Sim, X., Ng, D. P. K., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0062378 · Cited by 11 · see citing works
“Notwithstanding some heterogeneity of effect sizes possibly due to differences in population-specific LD architecture, allele frequency [18] and factors such as lifestyle and environment [22], rs1583645 of CPE and rs6583813 of IDE showed consistent associations with T2D on meta-analysis of multiple East Asian cohorts.”
BackgroundResultSelf-citation
CAPN10 SNP43 G>A gene polymorphism and type 2 diabetes mellitus in the Asian population: a meta-analysis of 9353 participants
Li, Y., Gong, G., Geng, H., Yang, Z., Zhou, C., Xu, J., Qian, Y., Wang, X., & Chen, A. (2014) · Endocrine Journal · doi:10.1507/endocrj.ej14-0297 · Cited by 12 · see citing works
Contiguous mutation syndrome in the era of high‐throughput sequencing
Langouët, M., Siquier-Pernet, K., Sanquer, S., Bôle‐Feysot, C., Nitschké, P., Boddaert, N., Münnich, A., Mancini, G. M. S., Barouki, R., Amiel, J., et al. (2015) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.134 · Cited by 12 · see citing works
“associated with obesity in Chinese population (Sell et al. 1998; Li et al. 2003; Sim et al. 2011; Huang et al. 2012; Sanghera and Blackett 2012; Zhu et al. 2012).”
Common and rare exonic MUC5B variants associated with type 2 diabetes in Han Chinese
Chen, G., Zhang, Z., Adebamowo, S. N., Liu, G., Adeyemo, A., Zhou, Y., Doumatey, A. P., Wang, C., Zhou, J., Yan, W., et al. (2017) · PLoS ONE · doi:10.1371/journal.pone.0173784 · Cited by 11 · see citing works
Risk Prediction Using Genome-Wide Association Studies on Type 2 Diabetes
Choi, S., Bae, S., & Park, T. (2016) · Genomics & Informatics · doi:10.5808/gi.2016.14.4.138 · Cited by 12 · see citing works
“Some genes (AGR3, C2CD4B, C6orf57, CAMK1D, DNER, IGF2BP2, KCNJ11, KCNQ1, NXN, PLS1, and RGS7) were previously reported to be associated with T2D [44-53].”
Background
Genetic Architecture of Type 2 Diabetes
Prasad, R. B., & Groop, L. (2016) · Wiley eBooks · doi:10.1002/9781118924853.ch14 · Cited by 12 · see citing works
"Diabetes Associated Genes from the Dark Matter of the Human Proteome"
Narayanan, R. (2014) · MOJ Proteomics & Bioinformatics · doi:10.15406/mojpb.2014.01.00020 · Cited by 11 · see citing works
“The ORFs C6orf27 and C6orf47 were associated exclusively with type 1 diabetes [58-60], whereas ORF C6orf57 was associated with type 2 diabetes and CD40 ligand [61,62].”
Background
Direct‐to‐consumer genetic testing in China and its role in GWAS discovery and replication
Kang, K., Sun, X., Wang, L., Yao, X., Tang, S., Deng, J., Wu, X., Yang, C., & Chen, G. (2020) · Quantitative Biology · doi:10.1007/s40484-020-0209-2 · Cited by 11 · see citing works
Genome-Wide Association for HbA1c in Malay Identified Deletion on SLC4A1 that Influences HbA1c Independent of Glycemia
Chai, J. F., Kao, S. L., Wang, C., Lim, V., Khor, I. W., Dou, J., Podgornaia, A., Chothani, S. P., Cheng, C., Sabanayagam, C., et al. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa658 · Cited by 11 · see citing works
Self-citation
GENOME-WIDE INTERACTION WITH SELECTED TYPE 2 DIABETES LOCI REVEALS NOVEL LOCI FOR TYPE 2 DIABETES IN AFRICAN AMERICANS
Keaton, J. M., Hellwege, J. N., Ng, M. C. Y., Palmer, N. D., Pankow, J. S., Fornage, M., Wilson, J. G., Correa, A., Rasmussen‐Torvik, L. J., Rotter, J. I., et al. (2016) · Pacific Symposium on Biocomputing (PSB) · doi:10.1142/9789813207813_0024 · Cited by 10 · see citing works
Pharmacogenomics of Sulfonylureas Response in Relation to rs7754840 Polymorphisms in Cyclin-Dependent Kinase 5 Regulatory Subunit-associated Protein 1-like (CDKAL1) Gene in Iranian Type 2 Diabetes Patients
Soltani, G., Hatefi, Z., Salehi, A. R., Khosravi, S., Ghiasi, M. R., Teke, K., Aminorroaya, A., & Salehi, R. (2018) · Advanced Biomedical Research · doi:10.4103/abr.abr_144_17 · Cited by 10 · see citing works
“[19-22] Carrying risk variants of CDKAL1 may attenuate normal functioning of CDKAL1 resulting in impaired insulin secretion.[16,23] Many studies have shown that rs7754840 in CDKAL1 gene is associated with risk of type 2 diabetes.”
Background
Identification of susceptible genes for complex chronic diseases based on disease risk functional SNPs and interaction networks
Wan, L., Zhu, L., Huang, H., He, Y., Lv, J., Li, W., Chen, L., & He, W. (2017) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2017.09.006 · Cited by 10 · see citing works
The high mobility group protein HMG20A cooperates with the histone reader PHF14 to modulate TGFβ and Hippo pathways
Gómez-Marín, E., Marjanović, M. P., Zarzuela, L., Basurto-Cayuela, L., Guerrero-Martinez, J. A., Arribas, G., Yerbes, R., Ceballos-Chávez, M., Rodríguez‐Paredes, M., Tomé, M., et al. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac766 · Cited by 9 · see citing works
Characterizing the genetic risk for Type 2 diabetes in a Malaysian multi‐ethnic cohort
Abdullah, N., Murad, N. A. A., Attia, J., Oldmeadow, C. J., Hanif, E. A. M., Syafruddin, S. E., Jalal, N. A., Ismail, N., Ishak, M., Jamal, R., et al. (2015) · Diabetic Medicine · doi:10.1111/dme.12735 · Cited by 9 · see citing works
Association of serine racemase gene variants with type 2 diabetes in the C hinese H an population
Zhang, S., Xiao, J., Ren, Q., Han, X., Tang, Y. C., Yang, W., Zhou, X., & Ji, L. (2013) · Journal of Diabetes Investigation · doi:10.1111/jdi.12145 · Cited by 9 · see citing works

Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. PLoS Genetics 7: e1001363
Sim, X., Ong, R. T.-H., Suo, C., Tay, W.-T., Liu, J., & Ng, D. P.-K. (2011)
Self-citation
Transferability Across Ethnic Groups
Saxena, R., & Palmer, N. D. (2016) · Springer eBooks · doi:10.1007/978-3-319-01574-3_8 · Cited by 3 · see citing works
Polymorphisms Identified through Genome-Wide Association Studies and Their Associations with Type 2 Diabetes in Chinese, Malays, and Asian-Indians in Singapore
Tan, J. T., Ng, D. P. K., Yaakub, S. N., Ye, S., Lim, X. L., Leong, H., Seet, L. T., Siew, W. F., Kon, W. Y. C., Wong, T. Y., et al. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0688 · Cited by 76 · see citing works
Self-citation
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
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Self-citation
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
Mahajan, A., Spracklen, C. N., Zhang, W., Ng, M. C. Y., Petty, L. E., Kitajima, H., Yu, G. Z., Rüeger, S., Speidel, L., Kim, Y. J., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01058-3 · Cited by 704 · see citing works

Authors: Sim, X., Ong, R. T.-H., Suo, C., Tay, W.-T., Liu, J., Ng, D. P.-K., Boehnke, M., Chia, K.-S., Wong, T.-Y., Seielstad, M., Teo, Y.-Y., & Tai, E.-S.
Affiliations: National University of Singapore (SG)
Agency for Science, Technology and Research (SG)
Singapore National Eye Center (SG)
University of Michigan (US)
The University of Melbourne (AU)
Corresponding author: Teo, Yik-Ying
Tai, E-Shyong
ORCID: Sim, Xueling
Ong, Rick Twee-Hee
Suo, Chen
Liu, Jianjun
Boehnke, Michael
Chia, Kee-Seng
Wong, Tien-Yin
Seielstad, Mark
Teo, Yik-Ying
Tai, E-Shyong
Venue: PLoS Genetics
Publisher: Public Library of Science (PLoS)
Published: 2011-04-07
Volume: 7
Issue: 4
Pages: e1001363
ISSN: 1553-7390 (ISSN-L)
1553-7404
DOI: 10.1371/journal.pgen.1001363
PMC: PMC3072366
OpenAlex: W2025086473
Cited by: 152
References: 67
Citations by year: 2026: 2 · 2025: 3 · 2024: 4 · 2023: 3 · 2022: 6 · 2021: 9 · 2020: 9 · 2019: 5 · 2018: 14 · 2017: 9 · 2016: 15 · 2015: 12 · 2014: 19 · 2013: 19 · 2012: 17
FWCI: 12.17
Type: journal article
Language: en
Open access: gold
doi.org
Licence: cc-by
Locations: PLoS Genetics (publishedVersion, cc-by)
Europe PMC (PubMed Central) (publishedVersion, cc-by)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
National University of Singapore (submittedVersion)
RePEc: Research Papers in Economics (submittedVersion)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
eScholarship (California Digital Library) (submittedVersion)
eScholarship (California Digital Library) (submittedVersion, cc-by)
Figshare (submittedVersion, cc-by)
Minerva Access (University of Melbourne) (submittedVersion, cc-by)
Funders: National Research Foundation (03/1/27/18/216)
National University of Singapore
National Research Foundation Singapore (NRF-RF-2010-05)
Genome Institute of Singapore
Medical Research Council
National Medical Research Council (09/1/35/19/616, NMRC/STaR/0003/2008, 03/1/27/18/216, 08/1/35/19/550, 0796/2003, STAR/0003/2008)
Biomedical Research Council (08/1/35/19/550, 03/1/27/18/216, 0796/2003, 09/1/35/19/616)
National Human Genome Research Institute (R56HG000376, R01HG000376)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
Keywords: type 2 diabetes, genetic susceptibility loci, multi-ethnic cohort, Chinese, Malay language, Asian Indians, CDKAL1, population-specific variants, allelic heterogeneity, linkage disequilibrium, fine mapping, genetic architecture
MeSH terms: Adult, Aged, Asia, Southeastern, Diabetes Mellitus, Type 2, Female, Humans, Male, Middle Aged, tRNA Methyltransferases, Linkage Disequilibrium, Case-Control Studies, Kinesins, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Cyclin-Dependent Kinase 5, Genome-Wide Association Study, Genetic Loci

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Transferability of Type 2 Diabetes Implicated Loci in Multi-Ethnic Cohorts from Southeast Asia

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