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Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia
Abstract
Genome-wide association studies have identified common variants that only partially explain the genetic risk for type 2 diabetes (T2D). Using genome-wide association data from 1,376 French individuals, we identified 16,360 SNPs nominally associated with T2D and studied these SNPs in an independent sample of 4,977 French individuals. We then selected the 28 best hits for replication in 7,698 Danish subjects and identified 4 SNPs showing strong association with T2D, one of which (rs2943641, P = 9.3 x 10(-12), OR = 1.19) was located adjacent to the insulin receptor substrate 1 gene (IRS1). Unlike previously reported T2D risk loci, which predominantly associate with impaired beta cell function, the C allele of rs2943641 was associated with insulin resistance and hyperinsulinemia in 14,358 French, Danish and Finnish participants from population-based cohorts; this allele was also associated with reduced basal levels of IRS1 protein and decreased insulin induction of IRS1-associated phosphatidylinositol-3-OH kinase activity in human skeletal muscle biopsies.
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“The failure to identify a qualitative or monogenic inheritance pattern and the findings from GWAS, MR, familial and twin studies, suggests that the heritability of PCOS is likely to be due to the combination of multiple genes with small effect size, as has been found with obesity and type 2 diabetes [79,80,94,95,96].”
From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [94]
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Molecular Association between Diabetes-Specific Local Gene Network and Nutrient Metabolism Modules
Zhang, T., Guo, C., Liu, Q., Zhang, Z., Wang, Q., Wang, C., & Wang, Y. (2010) · International Conference on Bioinformatics and Biomedical Engineering · doi:10.1109/icbbe.2010.5517883 · Cited by 2
“6 million DNA mutations which may lead to diabetes [9].”
BackgroundIntegrated genomic and BMI analysis for type 2 diabetes risk assessment
n-Aldea, D. L., Dhurandhar, E. J., Pérez‐Rodríguez, P., Klimentidis, Y. C., Tiwari, H. K., & Vazquez, A. I. (2015) · Frontiers in Genetics · doi:10.3389/fgene.2015.00075 · Cited by 2
Cosmo, S. D., Prudente, S., Lamacchia, O., Pucci, L., Lucchesi, D., Mendonça, C., Bailetti, D., Copetti, M., Pellegrini, F., Cignarelli, M., et al. (2013) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/gft325 · Cited by 2
Alnefaie, G. (2014) · Gene Technology · doi:10.4172/2329-6682.1000109 · Cited by 2
“This study was aiming to find a new aspect of polymorphism in IRS1 having a association in the increase in the susceptibility for autism and as IRS1 is in the PI3K pathway therefore, this research will also confirm that the pathway has an essential role in autism [32-36].”
Bioinformatics, Genomics and Diabetes
Sridhar, G. R., & Lakshmi, G. (2016) · SpringerBriefs in applied sciences and technology · doi:10.1007/978-981-10-0308-0_1 · Cited by 2
Udler, M. S., & Florez, J. C. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-800685-6.00014-x · Cited by 2
Physicians’ Perceptions and Attitudes toward Use of Electronic Medical Record Systems in Riyadh
AlOtaib, Y. H., & AlSaedi, M. (2022) · World Family Medicine Journal/Middle East Journal of Family Medicine · doi:10.5742/mewfm.2022.95218 · Cited by 4
Grant, S. F. A. (2023) · Springer eBooks · doi:10.1007/978-3-031-40116-9_11 · Cited by 3
Genome-Wide Association Studies of Obesity
Hedman, Å. K., Lindgren, C. M., & McCarthy, M. I. (2013) · Springer eBooks · doi:10.1007/978-1-4614-8642-8_3 · Cited by 2
Alvarez, M. F., Gómez, M. E. V., & Siewert, S. (2016) · OALib · doi:10.4236/oalib.1103270 · Cited by 3
“Previous functional studies found that the maternally transmitted T allele of rs4731702 SNP is associated with increased expression of KLF14 in adipose tissue, indicating the presence of a cis expression quantitative trait loci (eQTL) [9].”
BackgroundRaj, S. M., Pei, A., Foll, M., Schlamp, F., Excoffier, L., Fuller, D. Q., Kivisild, T., & Clark, A. G. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/747709 · Cited by 2
“The derived alleles of the vitamin A associated variants in CAST and GHR genes show higher frequencies in South and West Asia, while the derived and protective[20] allele of TCF7L2 variant rs10885409 shows the opposite pattern (Figure 4).”
BackgroundBaraskar, K., Thakur, P., Shrivastava, R., & Shrivastava, V. K. (2022) · Research Square · doi:10.21203/rs.3.rs-1913739/v1 · Cited by 2
khmour, H. Y., Al-Rabeei, Y., Deen, N. Z., Elnour, S., Al-Karbi, K., Rashed, M. H., Al-Muhannadi, M., Elmahdi, M., Shamari, H. A., abugesiesa, M. A., et al. (2022) · World Family Medicine Journal/Middle East Journal of Family Medicine · doi:10.5742/mewfm.2022.95233 · Cited by 1
Wang, Y., Hong, X., Cao, W. H., Lv, J., Yu, C., Huang, T., Sun, D., Liao, C., Pang, Y., Pang, Z., et al. (2023) · Journal of Endocrinological Investigation · doi:10.1007/s40618-023-02164-7 · Cited by 1
“The GENESIS consortium revealed that rs1208 near N-acetyltransferase 2 ( NAT2 ) was associated with insulin sensitivity, as well as with GLU, TG and TC [50].”
Musafer, K. N. J., Rava, M., & Al‐Shuhaib, M. B. S. (2023) · International Journal of Diabetes in Developing Countries · doi:10.1007/s13410-023-01265-6 · Cited by 1
“Mutations in this gene have been linked to T2DM and insulin resistance [64, 65].”
Genetic Explication of Impaired Insulin Resistance in Genesis of Metabolic Diseases
Soomro, N. I., & Bakhtiar, S. M. (2024) · Journal of Population Therapeutics and Clinical Pharmacology · doi:10.53555/jptcp.v31i6.6988 · Cited by 1
Pyeritz, R. E. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-812531-1.00001-4 · Cited by 1
Combining extremal Z-scores in meta-analysis
Zhang, Y., Liu, F., Zhou, X., & Zheng-bang, L. (2025) · Communication in Statistics- Theory and Methods · doi:10.1080/03610926.2025.2522111 · Cited by 1
“In the large Global Lipid Genetics Consortium (Rung et al. 2009; Teslovich et al. 2010), genome-wide association scans were performed on these four individual lipid traits, and the results of the meta-analysis were published at http://csg.sph.umich.edu//abecasis/public/lipids2010/, including the Z-score.”
Florez, J. C. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-382227-7.00082-3 · Cited by 1
Likelihood ratio-based integrated personal risk assessment of type 2 diabetes
Sato, N., Htun, N. C., Daimon, M., Tamiya, G., Kato, T., Kubota, I., Ueno, Y., Yamashita, H., Fukao, A., Kayama, T., et al. (2014) · Endocrine Journal · doi:10.1507/endocrj.ej14-0271 · Cited by 1
Wood, A. C., & Wang, Z. (2015) · Springer eBooks · doi:10.1007/978-3-319-12125-3_10-1 · Cited by 1
HanXiuqin, Y. T., Lv, S., & Ji, X. Z. Z. (2013) · Cited by 1
Metadata
- Authors
- Rung, J., Cauchi, S., Albrechtsen, A., Shen, L., Rocheleau, G., Cavalcanti-Proença, C., Bacot, F., Balkau, B., Belisle, A., Borch-Johnsen, K., Charpentier, G., Dina, C., Durand, E., Elliott, P., Hadjadj, S., Järvelin, M.-R., Laitinen, J., Lauritzen, T., Marre, M., Mazur, A., Meyre, D., Montpetit, A., Pisinger, C., Posner, B., Poulsen, P., Pouta, A., Prentki, M., Ribel-Madsen, R., Ruokonen, A., Sandbaek, A., Serre, D., Tichet, J., Vaxillaire, M., Wojtaszewski, J. F. P., Vaag, A., Hansen, T., Polychronakos, C., Pedersen, O., Froguel, P., & Sladek, R.
- Affiliations
- McGill University and Génome Québec Innovation Centre (CA)
- Centre National de la Recherche Scientifique (FR)
- University of Copenhagen (DK)
- Université Paris-Sud (FR)
- Centre Hospitalier Sud Francilien (FR)
- Imperial College London (GB)
- Inserm (FR)
- Finnish Institute of Occupational Health (FI)
- Aarhus University (DK)
- Glostrup Hospital (DK)
- McGill University (CA)
- Centre Hospitalier de l’Université de Montréal (CA)
- University of Oulu (FI)
- Lund University (SE)
- University of Southern Denmark (DK)
- Corresponding author
- Pedersen, Oluf
- Froguel, Philippe
- Sladek, Robert
- ORCID
- Rung, Johan
- Cauchi, Stéphane
- Albrechtsen, Anders
- Rocheleau, Ghislain
- Balkau, Beverley
- Charpentier, Guillaume
- Durand, Emmanuelle
- Elliott, Paul
- Hadjadj, Samy
- Järvelin, Marjo-Riitta
- Laitinen, Jaana
- Lauritzen, Torsten
- Marre, Michel
- Meyre, David
- Pisinger, Charlotta
- Prentki, Marc
- Serre, David
- Vaxillaire, Martine
- Wojtaszewski, Jørgen F P
- Vaag, Allan
- Hansen, Torben
- Polychronakos, Constantin
- Pedersen, Oluf
- Froguel, Philippe
- Sladek, Robert
- Venue
- Nature Genetics
- Published
- 2009-09-06
- Volume
- 41
- Issue
- 10
- Pages
- 1110-1115
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2044518560
- Cited by
- 479
- References
- 43
- Citations by year
- 2026: 5 · 2025: 8 · 2024: 16 · 2023: 11 · 2022: 37 · 2021: 16 · 2020: 19 · 2019: 14 · 2018: 13 · 2017: 21 · 2016: 30 · 2015: 40 · 2014: 42 · 2013: 47 · 2012: 58
- FWCI
- 31.00
- Type
- journal article
- Language
- en
- Update notices
- erratum (2009-10-01)
- Open access
- closed
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- University of Southern Denmark Research Portal (University of Southern Denmark) (submittedVersion)
- 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
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
- Keywords
- type 2 diabetes, insulin resistance, hyperinsulinemia, IRS-1, genetic susceptibility, single nucleotide polymorphisms, insulin signaling, skeletal muscle, genetic susceptibility loci
- MeSH terms
- Adult, Alleles, Biopsy, Diabetes Mellitus, Type 2, Female, Humans, Hyperinsulinism, Insulin Resistance, Male, Middle Aged, Genome, Human, Muscle, Skeletal, Phosphatidylinositol 3-Kinases, Polymorphism, Single Nucleotide, White People, Genome-Wide Association Study, Insulin Receptor Substrate Proteins
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