Cited by 542Diabetes and associated disordersGenetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

Hakonarson, Hakon, Grant, Struan F. A., Bradfield, Jonathan P., Marchand, Luc, Kim, Cecilia E., Glessner, Joseph T., Grabs, Rosemarie, Casalunovo, Tracy, Taback, Shayne P., Frackelton, Edward C., Lawson, Margaret L., Robinson, Luke J., Skraban, Robert, Lu, Yang, Chiavacci, Rosetta M., Stanley, Charles A., Kirsch, Susan E., Rappaport, Eric F., Orange, Jordan S., Monos, Dimitri S., Devoto, Marcella, Qu, Hui-Qi, Polychronakos, Constantin·2007·Nature

DOI 10.1038/nature06010

Open this paper in CoChat — free account

Abstract

Type 1 diabetes (T1D) in children results from autoimmune destruction of pancreatic beta cells, leading to insufficient production of insulin. A number of genetic determinants of T1D have already been established through candidate gene studies, primarily within the major histocompatibility complex but also within other loci. To identify new genetic factors that increase the risk of T1D, we performed a genome-wide association study in a large paediatric cohort of European descent. In addition to confirming previously identified loci, we found that T1D was significantly associated with variation within a 233-kb linkage disequilibrium block on chromosome 16p13. This region contains KIAA0350, the gene product of which is predicted to be a sugar-binding, C-type lectin. Three common non-coding variants of the gene (rs2903692, rs725613 and rs17673553) in strong linkage disequilibrium reached genome-wide significance for association with T1D. A subsequent transmission disequilibrium test replication study in an independent cohort confirmed the association. These results indicate that KIAA0350 might be involved in the pathogenesis of T1D and demonstrate the utility of the genome-wide association approach in the identification of previously unsuspected genetic determinants of complex traits.

Integrity signals

Registry

Crossref · 10.1038/nature06010

Cites

34 of 34 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089
Haploview: analysis and visualization of LD and haplotype maps
Barrett, J. C., Fry, B., Maller, J., & Daly, M. J. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bth457 · Cited by 14,551
Principal components analysis corrects for stratification in genome-wide association studies
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006) · Nature Genetics · doi:10.1038/ng1847 · Cited by 10,248
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
Pfam: clans, web tools and services
Finn, R. D. (2005) · Nucleic Acids Research · doi:10.1093/nar/gkj149 · Cited by 2,291
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
Ueda, H., Howson, J. M. M., Esposito, L., Heward, J., Snook, Chamberlain, G., Rainbow, D. B., Hunter, K. M. D., Smith, A. N., Di Genova, G., et al. (2003) · Nature · doi:10.1038/nature01621 · Cited by 2,175
A comprehensive review of genetic association studies
Hirschhorn, J. N., Lohmueller, K., Byrne, E., & Hirschhorn, K. (2002) · Genetics in Medicine · doi:10.1097/00125817-200203000-00002 · Cited by 1,674
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
Finland, G. O. T. 1. D. I., Todd, J. A., the Wellcome Trust Case Control Consortium, Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., et al. (2007) · Nature Genetics · doi:10.1038/ng2068 · Cited by 1,456
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes
Bottini, N., Musumeci, L., Alonso, A., Rahmouni, S., Nika, K., Rostamkhani, M., MacMurray, J. P., Meloni, T., Lucarelli, P., Pellecchia, M., et al. (2004) · Nature Genetics · doi:10.1038/ng1323 · Cited by 1,419
A genome-wide search for human type 1 diabetes susceptibility genes
Davies, J. L., Kawaguchi, Y., Bennett, S. T., Copeman, J. B., Cordell, H. J., Pritchard, L. E., Reed, P. W., Gough, S. C. L., Jenkins, S. C., Palmer, S. M., et al. (1994) · Nature · doi:10.1038/371130a0 · Cited by 1,276

Flagged first, then by citations

Show all 34 references

Research works printed but not linked: 1

Purcell, S. et al. PLINK: a toolset for whole-genome association and population-based linkage analysis. Am. J. Hum. Genet. (in the press)

Sorted by citations

Items 301–400 of 542

Lack of Association with Rheumatoid Arthritis of Selected Polymorphisms in 4 Candidate Genes: CFH, CD209, Eotaxin-3, and MHC2TA
Dieguez‐Gonzalez, R., Akar, S., Calaza, M., González‐Álvaro, I., Fernández‐Gutiérrez, B., Lamas, J. R., de la Serna, A. R., Cáliz, R., Blanco, F. J., Pascual‐Salcedo, D., et al. (2009) · The Journal of Rheumatology · doi:10.3899/jrheum.090022 · Cited by 17
Lack of relationship between mitochondrial heteroplasmy or variation and childhood obesity
Grant, S. F. A., Glessner, J., Bradfield, J. P., Zhao, J., Tirone, J. E., Berkowitz, R. I., Hakonarson, H. H., & Sondheimer, N. (2011) · International Journal of Obesity · doi:10.1038/ijo.2011.206 · Cited by 17
Self-citation
Human behavioral informatics in genetic studies of neuropsychiatric disease: Multivariate profile-based analysis
Bloss, C. S., Barrett, K. M. S., & Schork, N. J. (2010) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2010.04.012 · Cited by 17
Identification of nine genes as novel susceptibility loci for early‑onset ischemic stroke, intracerebral hemorrhage, or subarachnoid hemorrhage
Yamada, Y., Kato, K., Oguri, M., Horibe, H., Fujimaki, T., Yasukochi, Y., Takeuchi, I., & Sakuma, J. (2018) · Biomedical Reports · doi:10.3892/br.2018.1104 · Cited by 17
Recent advances in the genetics and genomics of asthma and related traits
Abou‐Sleiman, P. M., & Hakonarson, H. H. (2010) · Current Opinion in Pediatrics · doi:10.1097/mop.0b013e328339553d · Cited by 17
Self-citation
Association of TNF promoter polymorphisms with type 1 diabetes in the South Croatian population
Perica, V. B., ŠKRABI, V., ULI, V. I., BEI, K., Kapitanovi, S., & Zemunik, T. (2008) · Biological Research · doi:10.4067/s0716-97602008000200005 · Cited by 17
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment
Smits, D. J., Dekker, J., Schot, R., Tabarki, B. M., Alhashem, A. M., Demmers, J., Dekkers, D. H. W., Romito, A., van der Spek, P. J., van Ham, T. J., et al. (2022) · Human Genetics · doi:10.1007/s00439-022-02511-3 · Cited by 15
Cutting-Edge Issues in Primary Biliary Cirrhosis
Folci, M., Meda, F., Gershwin, M. E., & Selmi, C. F. (2011) · Clinical Reviews in Allergy & Immunology · doi:10.1007/s12016-011-8253-3 · Cited by 16
Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci
Qu, H., Qu, J., Bradfield, J. P., Marchand, L., Glessner, J., Chang, X., March, M., Li, J., Connolly, J. J., Roizen, J. D., et al. (2021) · Communications Biology · doi:10.1038/s42003-021-02368-8 · Cited by 16
Self-citation
The Immunogenetics of Alopecia areata
Rajabi, F., Abdollahimajd, F., Jabalameli, N., Kashani, M. N., & Firooz, A. (2022) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-92616-8_2 · Cited by 16
From Markers to Molecular Mechanisms: Type 1 Diabetes in the Post-GWAS Era
Baxter, A. G., & Jordan, M. A. (2012) · The Review of Diabetic Studies · doi:10.1900/rds.2012.9.201 · Cited by 16
Innate and adaptive autoimmunity in type 1 diabetes
Morran, M. P., McInerney, M. F., & Pietropaolo, M. (2008) · Pediatric Diabetes · doi:10.1111/j.1399-5448.2007.00334.x · Cited by 16
Type 1 Diabetes Genetics Consortium
Önengüt-Gümüşcü, S., CONCANNON, P. J., Akolkar, B., Erlich, H. A., Julier, C., Morahan, G., Nierras, C. R., Pociot, F., Todd, J. A., & Rich, S. S. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaf181 · Cited by 20
The development of genome-wide association studies and their application to complex diseases, including lupus
Bentham, J., & Vyse, T. J. (2013) · Lupus · doi:10.1177/0961203313492870 · Cited by 15
Multilocus Association Testing of Quantitative Traits Based on Partial Least-Squares Analysis
Zhang, F., Guo, X., & Deng, H. (2011) · PLoS ONE · doi:10.1371/journal.pone.0016739 · Cited by 14
Autoimmunity in Primary Immunodeficiencies (PID)
Padron, G. T., & Hernandez-Trujillo, V. P. (2022) · Clinical Reviews in Allergy & Immunology · doi:10.1007/s12016-022-08942-0 · Cited by 17
Associations between genetic risk variants for kidney diseases and kidney disease etiology
Wunnenburger, S., Schultheiß, U. T., Walz, G., Hausknecht, B., Ekici, A. B., Kronenberg, F., Eckardt, K., Köttgen, A., & Wuttke, M. (2017) · Scientific Reports · doi:10.1038/s41598-017-13356-6 · Cited by 15
Planning a genome-wide association study: Points to consider
Hakonarson, H. H., & Grant, S. F. A. (2011) · Annals of Medicine · doi:10.3109/07853890.2011.573803 · Cited by 14
Self-citation
Multifactor Dimensionality Reduction as a Filter-Based Approach for Genome Wide Association Studies
Oki, N. O., & Motsinger‐Reif, A. A. (2011) · Frontiers in Genetics · doi:10.3389/fgene.2011.00080 · Cited by 14
Association of UBASH3A gene polymorphism and atopic dermatitis in the Chinese Han population
Li, Y., Cheng, H., Xiao, F., Liang, B., Zhou, F., Li, P., Zheng, X.-D., Sun, L.-D., Yang, S., & Zhang, X.-J. (2017) · Genes and Immunity · doi:10.1038/gene.2017.15 · Cited by 14
Association study of TRAP1 gene polymorphisms with susceptibility and glucocorticoids efficacy of systemic lupus erythematosus
Li, S., Sun, X., Xu, J., Gu, Y., Liu, S., Xu, S., Pan, F., Tao, J., Cai, J., Liu, S., et al. (2018) · Gene · doi:10.1016/j.gene.2018.05.109 · Cited by 14
Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients
Qu, J., Qu, H., Bradfield, J. P., Glessner, J., Chang, X., Tian, L., March, M., Connolly, J. J., Roizen, J. D., Abou‐Sleiman, P. M., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-94994-9 · Cited by 14
Self-citation
Meet Me Halfway: When Genomics Meets Structural Bioinformatics
Gong, S., Worth, C. L., Cheng, T. M. K., & Blundell, T. L. (2011) · Journal of Cardiovascular Translational Research · doi:10.1007/s12265-011-9259-1 · Cited by 15
A genetic association study of the CLEC12A gene in rheumatoid arthritis
Michou, L., Cornélis, F., Levesque, J.-M., Bombardieri, S., Balsa, A., Westhovens, R., Barrera, P., Alves, H., van de Putte, L., Migliorini, P., et al. (2012) · Joint Bone Spine · doi:10.1016/j.jbspin.2011.12.012 · Cited by 14
Genetics of Type 1 Diabetes
Michels, A., Jeffrey, J., & Eisenbarth, G. (2011) · Humana Press eBooks · doi:10.1007/978-1-60327-478-4_15 · Cited by 2
Expression Profiling of Human Genetic and Protein Interaction Networks in Type 1 Diabetes
Bergholdt, R., Brorsson, C., Lage, K., Nielsen, J. H., Brunak, S., & Pociot, F. (2009) · PLoS ONE · doi:10.1371/journal.pone.0006250 · Cited by 14
Proceedings of the ninth annual UT-ORNL-KBRIN Bioinformatics Summit 2010
Rouchka, E. C., Flight, R. M., & Rinehart, C. A. (2010) · BMC Bioinformatics · doi:10.1186/1471-2105-11-s4-i1 · Cited by 14
Clarifying the function of genes at the chromosome 16p13 locus in type 1 diabetes: CLEC16A and DEXI
Gingerich, M. A., Sidarala, V., & Soleimanpour, S. A. (2019) · Genes and Immunity · doi:10.1038/s41435-019-0087-7 · Cited by 13
Improving Hematopoietic Cell Transplant Outcomes in a New Era of Genomic Research
Chien, J. W., Zhao, L. P., Storer, B. E., Martin, P. J., Boeckh, M., Warren, E. H., & Hansen, J. A. (2009) · Transplantation and Cellular Therapy · doi:10.1016/j.bbmt.2008.11.003 · Cited by 13
JAK/STAT inhibitor therapy partially rescues the lipodystrophic autoimmune phenotype in Clec16a KO mice
Pandey, R., Bakay, M. A., Strenkowski, B. P., Hain, H. S., & Hakonarson, H. H. (2021) · Scientific Reports · doi:10.1038/s41598-021-86493-8 · Cited by 13
Self-citation
Improving Power of Genome-Wide Association Studies with Weighted False Discovery Rate Control and Prioritized Subset Analysis
Lin, W., & Lee, W. (2012) · PLoS ONE · doi:10.1371/journal.pone.0033716 · Cited by 13
The role of the blood transcriptome in innate inflammation and stroke
Freedman, J. E., Vitseva, O. I., & Tanrıverdi, K. (2010) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2010.05731.x · Cited by 12
Gene-environment interaction in allergic disease: More questions, more answers?
Koppelman, G. H. (2007) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2007.10.007 · Cited by 13
A recombination hotspot leads to sequence variability within a novel gene (AK005651) and contributes to type 1 diabetes susceptibilityPreprint
Tan, I. K. L., Mackin, L., Wang, N., Papenfuss, A. T., Elso, C. M., Ashton, M. P., Quirk, F., Phipson, B., Bahlo, M., Speed, T. P., et al. (2010) · Genome Research · doi:10.1101/gr.101881.109 · Cited by 13
Implementation of type 1 diabetes genetic risk screening in children in diverse communities: the Virginia PrIMeD project
Guertin, K. A., Repaske, D. R., Taylor, J. F., Williams, E. S., Önengüt-Gümüşcü, S., Chen, W., Boggs, S. R., Yu, L., Allen, L., Botteon, L., et al. (2024) · Genome Medicine · doi:10.1186/s13073-024-01305-8 · Cited by 13
Multidimensional Bone Density Phenotyping Reveals New Insights Into Genetic Regulation of the Pediatric Skeleton
Mitchell, J. A., Chesi, A., Cousminer, D. L., McCormack, S. E., Kalkwarf, H. J., Lappe, J. M., Gilsanz, V., Oberfield, S. E., Shepherd, J., Kelly, A. T., et al. (2017) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.3362 · Cited by 12
Self-citation
Indonesians Human Leukocyte Antigen (HLA) Distributions and Correlations with Global Diseases
Pradana, K. A., Widjaya, M. A., & Wahjudi, M. (2019) · Immunological Investigations · doi:10.1080/08820139.2019.1673771 · Cited by 12
Autoimmune Disease Associated CLEC16A Variants Convey Risk of Parkinson’s Disease in Han Chinese
Fan, H.-H., Cui, L., Jiang, X.-X., Song, Y.-D., Liu, S.-S., Wu, K.-Y., Dong, H., Mao, M., Ovlyakulov, B., Wu, H., et al. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.856493 · Cited by 13
Morphological alterations in the dentition of type I diabetes mellitus patients
Yamunadevi, A., Basandi, P. S., Madhushankari, G., Donoghue, M., Alur, M., Selvamani, M., & Puneeth, H. (2014) · Journal of Pharmacy And Bioallied Sciences · doi:10.4103/0975-7406.137415 · Cited by 12
PROLEGOMENON TO THE EUROPEAN CONSTITUTION BOOK OF DIABETES MELLITUS
Ionescu-Tirgoviste, C., & Paulescu, N. (2008) · Cited by 12
Analysis of the expression of candidate genes for type 1 diabetes susceptibility in T cells
Hisanaga-Oishi, Y., Nishiwaki, Y., Nojima, K., & Ueda, H. (2014) · Endocrine Journal · doi:10.1507/endocrj.ej14-0002 · Cited by 11
Classification of genetic profiles of Crohn’s disease: a focus on theATG16L1gene
Grant, S. F. A., Baldassano, R. N., & Hakonarson, H. H. (2008) · Expert Review of Molecular Diagnostics · doi:10.1586/14737159.8.2.199 · Cited by 13
Self-citation
Association of genetic variants with myocardial infarction in individuals with or without hypertension or diabetes mellitus
Yamada (2009) · International Journal of Molecular Medicine · doi:10.3892/ijmm_00000282 · Cited by 12
Biased survival expectations and behaviours: Does domain specific information matter?
Costa‐Font, J., & Vilaplana‐Prieto, C. (2022) · Journal of Risk and Uncertainty · doi:10.1007/s11166-022-09382-z · Cited by 12
Linkage Analysis in Autoimmune Addison’s Disease: NFATC1 as a Potential Novel Susceptibility Locus
Mitchell, A. L., Wolff, A. S. B., MacArthur, K., Weaver, J. U., Vaidya, B., Bensing, S., Erichsen, M. M., Darlay, R., Husebye, E. S., Cordell, H. J., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0123550 · Cited by 11
Transmission disequilibrium analysis of 31 type 1 diabetes susceptibility loci in Finnish families
Laine, A. P., Knip, M., Ilonen, J., & Register, T. F. P. D. (2013) · Tissue Antigens · doi:10.1111/tan.12143 · Cited by 13
Polymorphisms in chromosome region 12q13 and their influence on age at onset of type 1 diabetes
Espino‐Paisán, L., de la Calle, H., Fernández‐Arquero, M., Figueredo, M. A., de la Concha, E. G., Urcelay, E., & Santiago, J. L. (2011) · Diabetologia · doi:10.1007/s00125-011-2177-6 · Cited by 11
Polymorphisms of CLEC16A Region and Autoimmune Thyroid Diseases
Muhali, F.-S., Cai, T., Zhu, J., Qin, Q., Xu, J., He, S., Shi, X., Jiang, W., Xiao, L., Li, D.-F., et al. (2014) · G3 Genes Genomes Genetics · doi:10.1534/g3.114.010926 · Cited by 11
Association of CD247 (CD3ζ) gene polymorphisms with T1D and AITD in the population of northern Sweden
Holmberg, D., Ruikka, K., Lindgren, P., Eliasson, M., & Mayans, S. (2016) · BMC Medical Genetics · doi:10.1186/s12881-016-0333-z · Cited by 11
Inducible knockout of Clec16a in mice results in sensory neurodegeneration
Hain, H. S., Pandey, R., Bakay, M. A., Strenkowski, B. P., Harrington, D., Romer, M. A., Motley, W. W., Li, J., Lancaster, E., Roth, L. M., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-88895-0 · Cited by 11
Self-citation
An intrinsically disordered protein region encoded by the human disease gene CLEC16A regulates mitophagy
Gingerich, M. A., Liu, X., Chai, B., Pearson, G. L., Vincent, M. P., Stromer, T., Zhu, J., Sidarala, V., Renberg, A., Sahu, D., et al. (2022) · Autophagy · doi:10.1080/15548627.2022.2080383 · Cited by 12
Correcting for Cryptic Relatedness in Population-Based Association Studies of Continuous Traits
Zhang, F., & Deng, H. (2009) · Human Heredity · doi:10.1159/000243151 · Cited by 11
GWAS signals across the HLA regions: revealing a clue for common etiology underlying infectious tumors and other immunity diseases
Shugart, Y. Y., Wang, Y., Jia, W.-H., & Zeng, Y.-X. (2011) · 癌症：英文版 · doi:10.5732/cjc.011.10075 · Cited by 10
Association of the PTPN22 polymorphism C1858T with type 1 diabetes mellitus
Лаврикова, Е. Ю., Nikitin, A. G., Seregin, Y. A., Zilberman, L. I., Tsitlidze, N. M., Кураева, Т. Л., Peterkova, V. A., Dedov, I. I., & Носиков, В. В. (2009) · Molecular Biology · doi:10.1134/s0026893309060089 · Cited by 10
Immunobiology of β-Cell Destruction
Torre, D. L. (2012) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-5441-0_16 · Cited by 10
Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis
Li, J., Li, J., Glessner, J., Yang, J., March, M., Kao, C., Bradfield, J. P., Li, J., Mentch, F. D., Qu, H., et al. (2022) · Arthritis & Rheumatology · doi:10.1002/art.42129 · Cited by 10
Self-citation
A critical review on therapeutic approaches of CRISPR-Cas9 in diabetes mellitus
Bora, J., Dey, A., Lyngdoh, A. R., Dhasmana, A., Ranjan, A., Kishore, S., Rustagi, S., Tuli, H. S., Chauhan, A. P. S., Rath, P., et al. (2023) · Naunyn-Schmiedeberg s Archives of Pharmacology · doi:10.1007/s00210-023-02631-1 · Cited by 14
Role of β‐cell autophagy in β‐cell physiology and the development of diabetes
Yasasilka, X. R., & Lee, M. (2024) · Journal of Diabetes Investigation · doi:10.1111/jdi.14184 · Cited by 12
The Correlation between the CLEC16A Gene and Genetic Susceptibility to Type 1 Diabetes in Chinese Children
Sang, Y., Zong, W., Yan, J., & Liu, M. (2012) · International Journal of Endocrinology · doi:10.1155/2012/245384 · Cited by 10
Influence of Genetic Polymorphisms on Clinical Outcomes of Glatiramer Acetate in Multiple Sclerosis Patients
Zarzuelo-Romero, M. J., Pérez-Ramírez, C., Cura, Y., Carrasco-Campos, M. I., Marangoni-Iglecias, L. M., Ramírez-Tortosa, M. C., & Jiménez-Morales, A. (2021) · Journal of Personalized Medicine · doi:10.3390/jpm11101032 · Cited by 10
Systemic Lupus Erythematosus Patients Exhibit Reduced Expression of CLEC16A Isoforms in Peripheral Leukocytes
Tam, R. C.-Y., Lee, A. L.-H., Yang, W., Lau, C. S., & Chan, V. S. F. (2015) · International Journal of Molecular Sciences · doi:10.3390/ijms160714428 · Cited by 10
Disease Liability Prediction from Large Scale Genotyping Data Using Classifiers with a Reject Option
Quevedo, J. R., Bahamonde, A., Miguel Pérez-enciso, A., & Luaces, O. (2011) · IEEE Transactions on Computational Biology and Bioinformatics · doi:10.1109/tcbb.2011.44 · Cited by 10
Association of the BANK1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry
Grant, S. F. A. (2008) · The Application of Clinical Genetics · doi:10.2147/tacg.s4089 · Cited by 10
Self-citation
Variants in the BACH2 and CLEC16A gene might be associated with susceptibility to insulin‐triggered type 1 diabetes
Onuma, H., Kawamura, R., Tabara, Y., Yamashita, M., Ohashi, J., Kawasaki, E., Imagawa, A., Yamada, Y., Chujo, D., Takahashi, K., et al. (2019) · Journal of Diabetes Investigation · doi:10.1111/jdi.13057 · Cited by 10
The type 1 diabetes candidate gene Dexi does not affect disease risk in the nonobese diabetic mouse model
Nieves-Bonilla, J. M., Kiaf, B., Schuster, C., & Kissler, S. (2019) · Genes and Immunity · doi:10.1038/s41435-019-0083-y · Cited by 10
Integrative Genomics
Thompson, S. D., Prahalad, S., & Colbert, R. A. (2015) · Elsevier eBooks · doi:10.1016/b978-0-323-24145-8.00005-3 · Cited by 11
The molecular mechanisms and intervention strategies of mitophagy in cardiorenal syndrome
Yao, M., Liu, Y., Sun, M., Qin, S., Xin, W., Guan, X., Zhang, B., He, T., & Huang, Y. (2022) · Frontiers in Physiology · doi:10.3389/fphys.2022.1008517 · Cited by 8
Associations between TNF gene polymorphisms (−308 A/G, −238 A/G, −1031 C/T and −857 T/C) and genetic susceptibility to T1D: a meta-analysis
Wen, P., Wang, X., Zhang, M., Cen, H., Pan, H., Ye, Q.-L., Mao, C., & Ye, D. (2014) · Endocrine · doi:10.1007/s12020-014-0172-7 · Cited by 9
Current status and the future for the genetics of type I diabetes
Rich, S. S., Akolkar, B., CONCANNON, P. J., Erlich, H. A., Hilner, J. E., Julier, C., Morahan, G., Nerup, J., Nierras, C. R., Pociot, F., et al. (2009) · Genes and Immunity · doi:10.1038/gene.2009.100 · Cited by 9
Association of CD226 polymorphisms with the susceptibility to type 1 diabetes in Chinese children
Xi, J., Nie, C.-L., Wang, J., Ma, Y., & Ma, A. H. (2015) · Genetics and Molecular Research · doi:10.4238/2015.november.25.13 · Cited by 9
Influence of SNP * SNP interaction on BMI in E uropean A merican adolescents: findings from the N ational L ongitudinal S tudy of A dolescent H ealth
Young, K. L., Graff, M., North, K. E., Richardson, A. S., Bradfield, J. P., Grant, S. F. A., Lange, L. A., Lange, E. M., Harris, K. M., & Gordon‐Larsen, P. (2015) · Pediatric Obesity · doi:10.1111/ijpo.12026 · Cited by 9
Self-citation
Recent Progress in the Genetics of Diabetes
Rich, S. S., Önengüt-Gümüşcü, S., & CONCANNON, P. J. (2009) · Hormone Research in Paediatrics · doi:10.1159/000178031 · Cited by 9
Sex as a modifier of genetic risk for type 1 diabetes
Qu, H., & Hakonarson, H. H. (2025) · Diabetes Obesity and Metabolism · doi:10.1111/dom.70124 · Cited by 8
Self-citation
Exploring the role of the multiple sclerosis susceptibility gene CLEC16A in T cells
Eriksson, A. M., Leikfoss, I. S., Abrahamsen, G., Sundvold, V., Isom, M. M., Keshari, P., Rognes, T., Landsverk, O. J. B., Bos, S. D., Harbo, H. F., et al. (2021) · Scandinavian Journal of Immunology · doi:10.1111/sji.13050 · Cited by 8
Using “-omics” Data to Inform Genome-wide Association Studies (GWASs) in the Osteoporosis Field
Abood, A., & Farber, C. R. (2021) · Current Osteoporosis Reports · doi:10.1007/s11914-021-00684-w · Cited by 8
Proteomic Characterization of Mouse Cytosolic and Membrane Prostate Fractions: High Levels of Free SUMO Peptides Are Androgen-Regulated
Caron, D., Winstall, É., Inaguma, Y., Michaud, S., Lettre, F., Bourassa, S., Kelly, I., Poirier, G. G., Faure, R. L., & Tanguay, R. M. (2008) · Journal of Proteome Research · doi:10.1021/pr8002497 · Cited by 8
Variation within thePPARGgene is associated with residual beta-cell function and glycemic control in children and adolescents during the first year of clinical type 1 diabetes
Pörksen, S., Nielsen, L. B., Mortensen, H. B., Danne, T., Kočova, M., Castaño, L. A., Pociot, F., Hougaard, P., Ekstrøm, C. T., Gammeltoft, S., et al. (2008) · Pediatric Diabetes · doi:10.1111/j.1399-5448.2008.00398.x · Cited by 8
Scientific software: seeing the SNPs between us
Buckingham, S. D. (2008) · Nature Methods · doi:10.1038/nmeth1008-903 · Cited by 8
Uso de la genética y la transcriptómica en el diagnóstico y tratamiento de la enfermedad coronaria
Freedman, J. E., & Iafrati, H. F. (2010) · Revista Española de Cardiología · doi:10.1016/s0300-8932(10)70243-8 · Cited by 8
New Perspectives in Studying Type 1 Diabetes Susceptibility Biomarkers
Park, Y. B., Ko, K. S., & Rhee, B. D. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26073249 · Cited by 8
Molecular and Inflammatory Etiologies of β-Cell Dysfunction in Type 1 Diabetes
Rostron, C. R., & Evans‐Molina, C. (2025) · Physiology · doi:10.1152/physiol.00008.2025 · Cited by 9
Gene network analysis of small molecules with autoimmune disease associated genes predicts a novel strategy for drug efficacy
Maiti, A. K., & Nath, S. K. (2012) · Autoimmunity Reviews · doi:10.1016/j.autrev.2012.09.001 · Cited by 7
Target genes regulated by CLEC16A intronic region associated with common variable immunodeficiency
Huang, X., Huang, J., Li, X., Fan, J., Zhou, D., Qu, H., Glessner, J., Ji, D., Jia, Q., Ding, Z., et al. (2024) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2023.12.023 · Cited by 7
Self-citation
Postmenopausal osteoporotic fracture-associated COLIA1 variant impacts bone accretion in girls
Cousminer, D. L., McCormack, S. E., Mitchell, J. A., Chesi, A., Kindler, J. M., Kelly, A. T., Voight, B. F., Kalkwarf, H. J., Lappe, J. M., Shepherd, J., et al. (2019) · Bone · doi:10.1016/j.bone.2019.01.026 · Cited by 7
Self-citation
Genetics of Childhood Obesity
Zhao, J., & Grant, S. F. A. (2013) · Apple Academic Press eBooks · doi:10.1201/b16340-3 · Cited by 7
Self-citation
Genome-wide association study of the age of onset of type 1 diabetes reveals HTATIP2 as a novel T cell regulator
Cardinale, C. J., Chang, X., Wei, Z., Qu, H., Bradfield, J. P., Polychronakos, C., & Hakonarson, H. H. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1101488 · Cited by 6
Self-citation
Genome-wide Association: From Confounded to Confident
Glessner, J., & Hakonarson, H. H. (2011) · The Neuroscientist · doi:10.1177/1073858410381533 · Cited by 6
Self-citation
Confounding from cryptic relatedness in haplotype-based association studies
Zhang, F., & Deng, H. (2010) · Genetica · doi:10.1007/s10709-010-9476-6 · Cited by 6
Multilocus associations of inflammatory genes with the risk of type 1 diabetes.
Timasheva, Y., Balkhiyarova, Z., Nasibullin, T., Avzaletdinova, D., Morugova, T., Mustafina, O., & Prokopenko, I. (2019) · Gene · doi:10.1016/j.gene.2019.04.085 · Cited by 6
Autoimmune Disorders
Baranzini, S. E. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-382227-7.00070-7 · Cited by 5
Association of IGHM polymorphisms with susceptibility to type 1 diabetes
Zouidi, F., Raouia, F., Abida, O., Penha‐Gonçalves, C., & Masmoudi, H. (2022) · Immunologic Research · doi:10.1007/s12026-021-09252-x · Cited by 6
Genetic Predisposition, Humans
Jordan, M. A., Field, J., Butzkueven, H., & Baxter, A. G. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-384929-8.00026-5 · Cited by 6
Development of the Pancreas and Neonatal Diabetes
Scharfmann, R., & Hamilton-Shield, J. P. (2007) · Endocrine development · doi:10.1159/isbn.978-3-8055-8386-2 · Cited by 7
Association of genetic variants with ischemic stroke in Japanese individuals with or without metabolic syndrome
Yamada (2009) · International Journal of Molecular Medicine · doi:10.3892/ijmm_00000342 · Cited by 6
The influence of G-tract and loop length on the topological variability of putative five and six G-quartet DNA structures in the human genome
Štefan, U., Brázda, V., Plavec, J., & Marušič, M. (2024) · International Journal of Biological Macromolecules · doi:10.1016/j.ijbiomac.2024.136008 · Cited by 5
Defining Mechanistic Links Between the Non-Coding Variant rs17673553 in CLEC16A and Lupus Susceptibility
Rallabandi, H. R., Singh, M. K., Looger, L. L., & Nath, S. K. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26010314 · Cited by 5
A variant of CLEC16A gene confers protection for Vogt–Koyanagi–Harada syndrome but not for Behcet's disease in a Chinese Han population
Li, K., Hou, S., Qi, J., Kijlstra, A., & Yang, P. (2015) · Experimental Eye Research · doi:10.1016/j.exer.2015.01.004 · Cited by 5
Prevalence of Selected Polymorphisms of Il7R, CD226, CAPSL, and CLEC16A Genes in Children and Adolescents with Autoimmune Thyroid Diseases
Borysewicz-Sańczyk, H., Wawrusiewicz‐Kurylonek, N., Gościk, J., Sawicka, B., Bossowski, F., Corica, D., Aversa, T., Wasniewska, M. G., & Bossowski, A. T. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25074028 · Cited by 5
Blood and Cardiovascular Disease
Tanrıverdi, K., & Freedman, J. E. (2008) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.108.814186 · Cited by 5
Physical Activity and Bone Accretion
Mitchell, J. A., Chesi, A., McCormack, S. E., Cousminer, D. L., Kalkwarf, H. J., Lappe, J. M., Gilsanz, V., Oberfield, S. E., Shepherd, J., Kelly, A. T., et al. (2018) · Medicine & Science in Sports & Exercise · doi:10.1249/mss.0000000000001520 · Cited by 5
Self-citation

Authors: Hakonarson, H., Grant, S. F. A., Bradfield, J. P., Marchand, L., Kim, C. E., Glessner, J. T., Grabs, R., Casalunovo, T., Taback, S. P., Frackelton, E. C., Lawson, M. L., Robinson, L. J., Skraban, R., Lu, Y., Chiavacci, R. M., Stanley, C. A., Kirsch, S. E., Rappaport, E. F., Orange, J. S., Monos, D. S., Devoto, M., Qu, H.-Q., & Polychronakos, C.
Affiliations: Children's Hospital of Philadelphia (US)
Pediatrics and Genetics (US)
Centre for Applied Genomics (CA)
McGill University (CA)
University of Manitoba (CA)
University of Ottawa (CA)
Markham Stouffville Hospital (CA)
University of Pennsylvania (US)
Corresponding author: Hakonarson, Hakon
Polychronakos, Constantin
ORCID: Hakonarson, Hakon
Grant, Struan F. A.
Glessner, Joseph T.
Lawson, Margaret L.
Lu, Yang
Stanley, Charles A.
Kirsch, Susan E.
Orange, Jordan S.
Monos, Dimitri S.
Devoto, Marcella
Qu, Hui-Qi
Polychronakos, Constantin
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2007-07-15
Volume: 448
Issue: 7153
Pages: 591-594
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature06010
OpenAlex: W2031539362
Cited by: 542
References: 34
Citations by year: 2026: 8 · 2025: 9 · 2024: 14 · 2023: 7 · 2022: 16 · 2021: 26 · 2020: 13 · 2019: 16 · 2018: 14 · 2017: 18 · 2016: 22 · 2015: 22 · 2014: 28 · 2013: 40 · 2012: 25
FWCI: 39.45
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
RePEc: Research Papers in Economics (submittedVersion)
IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
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
Keywords: type 1 diabetes, C-type lectin, sugar-binding proteins, genetic susceptibility, chromosome 16p13, linkage disequilibrium, non-coding variants, transmission disequilibrium test, pediatric diabetes, major histocompatibility complex, islet autoimmunity
MeSH terms: Diabetes Mellitus, Type 1, Genetic Markers, Humans, Monosaccharide Transport Proteins, Nuclear Family, Cohort Studies, Linkage Disequilibrium, Genome, Human, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Lectins, C-Type

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks