Association study of a common variant near IRS1 with type 2 diabetes mellitus in Chinese Han population

Endocrine

Volumn 43, Issue 1, 2013, Pages 84-91

  Tang, Yong ^a   Han, Xueyao ^a   Sun, Xiuqin ^a   Lv, Chao ^a   Zhang, Xiaomei ^a   Guo, Wulan ^a   Ren, Qian ^a   Luo, Yingying ^a   Zhang, Xiuying ^a   Zhou, Xianghai ^a   Ji, Linong ^a  

^a PEKING UNIVERSITY PEOPLE S HOSPITAL   (China)

Author keywords

Gene; IRS1; Single nucleotide polymorphism; Type 2 diabetes mellitus

Indexed keywords

GLUCOSE; INSULIN RECEPTOR SUBSTRATE 1;

ADULT; ARTICLE; CHINESE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; GLUCOSE BLOOD LEVEL; GLUCOSE TOLERANCE; HUMAN; IRS1 GENE; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; WAIST CIRCUMFERENCE;

EID: 84872300783     PISSN: 1355008X     EISSN: 15590100     Source Type: Journal    
DOI: 10.1007/s12020-012-9693-0     Document Type: Article

References (35)

1. W. Yang, J. Lu, J. Weng, W. Jia, L. Ji, J. Xiao, Z. Shan, J. Liu, H. Tian, Q. Ji, D. Zhu, J. Ge, L. Lin, L. Chen, X. Guo, Z. Zhao, Q. Li, Z. Zhou, G. Shan, China National Diabetes and Metabolic Disorders Study Group, Prevalence of diabetes among men and women in China. N. Eng. J. Med. 362, 1090-1101 (2010)
2. M.E. Travers, M.I. McCarthy, Type 2 diabetes and obesity: genomics and the clinic. Hum. Genet. 130, 41-58 (2011)
3. R.M. Watanabe, The genetics of insulin resistance: where's Waldo? Curr. Diab. Rep. 10, 476-484 (2010)
4. X.J. Sun, P. Rothenberg, C.R. Kahn, J.M. Backer, E. Araki, P.A. Wilden, D.A. Cahill, B.J. Goldstein, M.F. White, Structure of the insulin receptor substrate IRS-1 defines a unique signal transduction protein. Nature 352, 73-77 (1991)
5. K. Almind, C. Bjørbaek, H. Vestergaard, T. Hansen, S. Echwald, O. Pedersen, Aminoacid polymorphisms of insulin receptor substrate-1 in non-insulin-dependent diabetes mellitus. Lancet 342, 828-832 (1993)
6. A. Jellema, M.P. Zeegers, E.J. Feskens, P.C. Dagnelie, R.P. Mensink, Gly972Arg variant in the insulin receptor substrate-1 gene and association with type 2 diabetes: a meta-analysis of 27 studies. Diabetologia 46, 990-995 (2003)
7. E. Morini, S. Prudente, E. Succurro, M. Chandalia, Y.Y. Zhang, S. Mammarella, F. Pellegrini, C. Powers, V. Proto, B. Dallapiccola, A. Cama, G. Sesti, N. Abate, A. Doria, V. Trischitta, IRS1 G972R polymorphism and type 2 diabetes: a paradigm for the difficult ascertainment of the contribution to disease susceptibility of 'low-frequency-low-risk' variants. Diabetologia 52, 1852-1857 (2009)
8. J. Rung, S. Cauchi, A. Albrechtsen, L. Shen, G. Rocheleau, C. Cavalcanti-Proença, F. Bacot, B. Balkau, A. Belisle, K. Borch-Johnsen, G. Charpentier, C. Dina, E. Durand, P. Elliott, S. Hadjadj, M.R. Järvelin, J. Laitinen, T. Lauritzen, M. Marre, A. Mazur, D. Meyre, A. Montpetit, C. Pisinger, B. Posner, P. Poulsen, A. Pouta, M. Prentki, R. Ribel-Madsen, A. Ruokonen, A. Sandbaek, D. Serre, J. Tichet, M. Vaxillaire, J.F. Wojtaszewski, A. Vaag, T. Hansen, C. Polychronakos, O. Pedersen, P. Froguel, R. Sladek, Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. Nat. Genet. 41, 1110-1115 (2009)
9. Y. Liu, Z. Liu, Y. Song, D. Zhou, D. Zhang, T. Zhao, Z. Chen, L. Yu, Y. Yang, G. Feng, J. Li, J. Zhang, S. Liu, Z. Zhang, L. He, H. Xu, Meta-analysis added power to identify variants in FTO associated with type 2 diabetes and obesity in the Asian population. Obesity (Silver Spring) 18, 1619-1624 (2010)
10. Y. Luo, H. Wang, X. Han, Q. Ren, F. Wang, X. Zhang, X. Sun, X. Zhou, L. Ji, Meta-analysis of the association between SNPs in TCF7L2 and type 2 diabetes in East Asian population. Diab. Res. Clin. Pract. 85, 139-146 (2009)
11. W.L. Guo, Y. Tang, X.Y. Han, L.N. Ji, Meta-analysis of Pro12Ala polymorphism of PPARγ gene with type 2 diabetes in Chinese Han population. Chin. J. Diab. 19, 483-488 (2011)
12. W. Huang, Y. Sun, J. Sun, Combined effects of FTO rs9939609 and MC4R rs17782313 on obesity and BMI in Chinese Han populations. Endocrine 39, 69-74 (2011)
13. Y.Y. Zheng, X. Xie, Y.T. Ma, Y.N. Yang, Z.Y. Fu, X.M. Li, X. Ma, B.D. Chen, F. Liu, Relationship between type 2 diabetes mellitus and a novel polymorphism C698T in C5L2 in the Chinese Han population. Endocrine 41, 296-301 (2012)
14. X. Zhou, L. Ji, Y. Luo, X. Han, X. Zhang, X. Sun, Q. Ren, Q. Qiao, Risk factors associated with the presence of diabetes in Chinese communities in Beijing. Diab. Res. Clin. Pract. 86, 233-238 (2009)
15. X.H. Zhou, L.N. Ji, Y.Y. Luo, X.Y. Zhang, X.Y. Han, Q. Qiao, Performance of HbA(1c) for detecting newly diagnosed diabetes and pre-diabetes in Chinese communities living in Beijing. Diabet. Med. 26, 1262-1268 (2009)
16. D.R. Matthews, J.P. Hosker, A.S. Rudenski, B.A. Naylor, D.F. Treacher, R.C. Turner, Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 28, 412-419 (1985)
17. Y. Kaburagi, T. Yamauchi, R. Yamamoto-Honda, K. Ueki, K. Tobe, Y. Akanuma, Y. Yazaki, T. Kadowaki, The mechanism of insulin-induced signal transduction mediated by the insulin receptor substrate family. Endocr. J. 46(Suppl), s25-s34 (1999)
18. R.N. Kulkarni, J.C. Brüning, J.N. Winnay, C. Postic, M.A. Magnuson, C.R. Kahn, Tissue-specific knockout of the insulin receptor in pancreatic beta cells creates an insulin secretory defect similar to that in type 2 diabetes. Cell 96, 329-339 (1999)
19. J.C. Brüning, M.D. Michael, J.N. Winnay, T. Hayashi, D. Hörsch, D. Accili, L.J. Goodyear, C.R. Kahn, A muscle-specific insulin receptor knockout exhibits features of the metabolic syndrome of NIDDM without altering glucose tolerance. Mol. Cell 2, 559-569 (1998)
20. D. Lauro, Y. Kido, A.L. Castle, M.J. Zarnowski, H. Hayashi, Y. Ebina, D. Accili, Impaired glucose tolerance in mice with a targeted impairment of insulin action in muscle and adipose tissue. Nat. Genet. 20, 294-298 (1998)
21. H. Tamemoto, T. Kadowaki, K. Tobe, T. Yagi, H. Sakura, T. Hayakawa, Y. Terauchi, K. Ueki, Y. Kaburagi, S. Satoh et al., Insulin resistance and growth retardation in mice lacking insulin receptor substrate-1. Nature 372, 182-186 (1994)
22. D.J. Withers, J.S. Gutierrez, H. Towery, D.J. Burks, J.M. Ren, S. Previs, Y. Zhang, D. Bernal, S. Pons, G.I. Shulman, S. Bonner-Weir, M.F. White, Disruption of IRS-2 causes type 2 diabetes in mice. Nature 391, 900-904 (1998)
23. N. Yiannakouris, J.A. Cooper, S. Shah, F. Drenos, H.A. Ireland, J.W. Stephens, K.W. Li, R. Elkeles, I.F. Godsland, M. Kivimaki, A.D. Hingorani, M. Kumari, P.J. Talmud, S.E. Humphries, IRS1 gene variants, dysglycaemic metabolic changes and type-2 diabetes risk. Nutr. Metab. Cardiovasc. Dis. (2011). doi: 10.1016/j.numecd.2011.05.009
24. T. Ohshige, M. Iwata, S. Omori, Y. Tanaka, H. Hirose, K. Kaku, H. Maegawa, H. Watada, A. Kashiwagi, R. Kawamori, K. Tobe, T. Kadowaki, Y. Nakamura, S. Maeda, Association of new loci identified in European genome-wide association studies with susceptibility to type 2 diabetes in the Japanese. PLoS ONE (2011). doi: 10.1371/journal.pone.0026911
25. K.H. Yoon, J.H. Lee, J.W. Kim, J.H. Cho, Y.H. Choi, S.H. Ko, P. Zimmet, H.Y. Son, Epidemic obesity and type 2 diabetes in Asia. Lancet 368, 1681-1688 (2006)
26. J.I. Torréns, J. Skurnick, A.L. Davidow, S.G. Korenman, N. Santoro, M. Soto-Greene, N. Lasser, Study of Women's Health Across the Nation (SWAN), Ethnic differences in insulin sensitivity and beta-cell function in premenopausal or early perimenopausal women without diabetes: the Study of Women's Health Across the Nation (SWAN). Diabetes Care 27, 354-361 (2004)
27. T.O. Kilpeläinen, M.C. Zillikens, A. Stančákova, F.M. Finucane, J.S. Ried, C. Langenberg, W. Zhang, J.S. Beckmann, J. Luan, L. Vandenput, U. Styrkarsdottir, Y. Zhou, A.V. Smith, J.H. Zhao, N. Amin, S. Vedantam, S.Y. Shin, T. Haritunians, M. Fu, M.F. Feitosa, M. Kumari, B.V. Halldorsson, E. Tikkanen, M. Mangino, C. Hayward, C. Song, A.M. Arnold, Y.S. Aulchenko, B.A. Oostra, H. Campbell, L.A. Cupples, K.E. Davis, A. Döring, G. Eiriksdottir, K. Estrada, J.M. Fernández-Real, M. Garcia, C. Gieger, N.L. Glazer, C. Guiducci, A. Hofman, S.E. Humphries, B. Isomaa, L.C. Jacobs, A. Jula, D. Karasik, M.K. Karlsson, K.T. Khaw, L.J. Kim, M. Kivimäki, N. Klopp, B. Kühnel, J. Kuusisto, Y. Liu, O. Ljunggren, M. Lorentzon, R.N. Luben, B. McKnight, D. Mellström, B.D. Mitchell, V. Mooser, J.M. Moreno, S. Männistö, J.R. O'Connell, L. Pascoe, L. Peltonen, B. Peral, M. Perola, B.M. Psaty, V. Salomaa, D.B. Savage, R.K. Semple, T. Skaric-Juric, G. Sigurdsson, K.S. Song, T.D. Spector, A.C. Syvänen, P.J. Talmud, G. Thorleifsson, U. Thorsteinsdottir, A.G. Uitterlinden, C.M. van Duijn, A. Vidal-Puig, S.H. Wild, A.F. Wright, D.J. Clegg, E. Schadt, J.F. Wilson, I. Rudan, S. Ripatti, I.B. Borecki, A.R. Shuldiner, E. Ingelsson, J.O. Jansson, R.C. Kaplan, V. Gudnason, T.B. Harris, L. Groop, D.P. Kiel, F. Rivadeneira, M. Walker, I. Barroso, P. Vollenweider, G. Waeber, J.C. Chambers, J.S. Kooner, N. Soranzo, J.N. Hirschhorn, K. Stefansson, H.E. Wichmann, C. Ohlsson, S. O'Rahilly, N.J. Wareham, E.K. Speliotes, C.S. Fox, M. Laakso, R.J. Loos, Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat. Genet. 43, 753-760 (2011)
28. C.S. Fox, N. Heard-Costa, L.A. Cupples, J. Dupuis, R.S. Vasan, L.D. Atwood, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100 K project. BMC Med. Genet. 8(Suppl 1), S18 (2007)
29. J.C. Chambers, P. Elliott, D. Zabaneh, W. Zhang, Y. Li, P. Froguel, D. Balding, J. Scott, J.S. Kooner, Common genetic variation near MC4R is associated with waist circumference and insulin resistance. Nat. Genet. 40, 716-718 (2008)
30. N.L. Heard-Costa, M.C. Zillikens, K.L. Monda, A. Johansson, T.B. Harris, M. Fu, T. Haritunians, M.F. Feitosa, T. Aspelund, G. Eiriksdottir, M. Garcia, L.J. Launer, A.V. Smith, B.D. Mitchell, P.F. McArdle, A.R. Shuldiner, S.J. Bielinski, E. Boerwinkle, F. Brancati, E.W. Demerath, J.S. Pankow, A.M. Arnold, Y.D. Chen, N.L. Glazer, B. McKnight, B.M. Psaty, J.I. Rotter, N. Amin, H. Campbell, U. Gyllensten, C. Pattaro, P.P. Pramstaller, I. Rudan, M. Struchalin, V. Vitart, X. Gao, A. Kraja, M.A. Province, Q. Zhang, L.D. Atwood, J. Dupuis, J.N. Hirschhorn, C.E. Jaquish, C.J. O'Donnell, R.S. Vasan, C.C. White, Y.S. Aulchenko, K. Estrada, A. Hofman, F. Rivadeneira, A.G. Uitterlinden, J.C. Witteman, B.A. Oostra, R.C. Kaplan, V. Gudnason, J.R. O'Connell, I.B. Borecki, C.M. van Duijn, L.A. Cupples, C.S. Fox, K.E. North, NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. PLoS Genet. (2009). doi: 10.1371/journal.pgen.1000539
31. D.C. Croteau-Chonka, A.F. Marvelle, E.M. Lange, N.R. Lee, L.S. Adair, L.A. Lange, K.L. Mohlke, Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. Obesity (Silver Spring) 19, 1019-1027 (2011)
32. A.T. Kraja, D. Vaidya, J.S. Pankow, M.O. Goodarzi, T.L. Assimes, I.J. Kullo, U. Sovio, R.A. Mathias, Y.V. Sun, N. Franceschini, D. Absher, G. Li, Q. Zhang, M.F. Feitosa, N.L. Glazer, T. Haritunians, A.L. Hartikainen, J.W. Knowles, K.E. North, C. Iribarren, B. Kral, L. Yanek, P.F. O'Reilly, M.I. McCarthy, C. Jaquish, D.J. Couper, A. Chakravarti, B.M. Psaty, L.C. Becker, M.A. Province, E. Boerwinkle, T. Quertermous, L. Palotie, M.R. Jarvelin, D.M. Becker, S.L. Kardia, J.I. Rotter, Y.D. Chen, I.B. Borecki, A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Diabetes 60, 1329-1339 (2011)
33. K. Almind, G. Inoue, O. Pedersen, C.R. Kahn, A common amino acid polymorphism in insulin receptor substrate-1 causes impaired insulin signaling. Evidence from transfection studies. J. Clin. Investig. 97, 2569-2575 (1996)
34. T.M. Teslovich, K. Musunuru, A.V. Smith, A.C. Edmondson, I.M.Stylianou, M. Koseki, J.P. Pirruccello, S. Ripatti, D.I. Chasman, C.J. Willer, C.T. Johansen, S.W. Fouchier, A. Isaacs, G.M. Peloso, M. Barbalic, S.L. Ricketts, J.C. Bis, Y.S. Aulchenko, G. Thorleifsson, M.F. Feitosa, J. Chambers, M. Orho-Melander, O. Melander, T. Johnson, X. Li, X. Guo, M. Li, Y. Shin Cho, M. Jin Go, Y. Jin Kim, J.Y. Lee, T. Park, K. Kim, X. Sim, R. Twee-Hee Ong, D.C. Croteau-Chonka, L.A. Lange, J.D. Smith, K. Song, J. Hua Zhao, X. Yuan, J. Luan, C. Lamina, A. Ziegler, W. Zhang, R.Y. Zee, A.F. Wright, J.C. Witteman, J.F. Wilson, G. Willemsen, H.E. Wichmann, J.B. Whitfield, D.M. Waterworth, N.J. Wareham, G. Waeber, P. Vollenweider, B.F. Voight, V. Vitart, A.G. Uitterlinden, M. Uda, J. Tuomilehto, J.R. Thompson, T. Tanaka, I. Surakka, H.M. Stringham, T.D. Spector, N. Soranzo, J.H. Smit, J. Sinisalo, K. Silander, E.J. Sijbrands, A. Scuteri, J. Scott, D. Schlessinger, S. Sanna, V. Salomaa, J. Saharinen, C. Sabatti, A. Ruokonen, I. Rudan, L.M. Rose, R. Roberts, M. Rieder, B.M. Psaty, P.P. Pramstaller, I. Pichler, M. Perola, B.W. Penninx, N.L. Pedersen, C. Pattaro, A.N. Parker, G. Pare, B.A. Oostra, C.J. O'Donnell, M.S. Nieminen, D.A. Nickerson, G.W. Montgomery, T. Meitinger, R. McPherson, M.I. McCarthy, W. McArdle, D. Masson, N.G. Martin, F. Marroni, M. Mangino, P.K. Magnusson, G. Lucas, R. Luben, R.J. Loos, M.L. Lokki, G. Lettre, C. Langenberg, L.J. Launer, E.G. Lakatta, R. Laaksonen, K.O. Kyvik, F. Kronenberg, I.R. König, K.T. Khaw, J. Kaprio, L.M. Kaplan, A. Johansson, M.R. Jarvelin, A.C. Janssens, E. Ingelsson, W. Igl, G. Kees Hovingh, J.J. Hottenga, A. Hofman, A.A. Hicks, C Hengstenberg, I.M. Heid, C. Hayward, A.S. Havulinna, N.D. Hastie, T.B. Harris, T. Haritunians, A.S. Hall, U. Gyllensten, C. Guiducci, L.C. Groop, E. Gonzalez, C. Gieger, N.B. Freimer, L. Ferrucci, J. Erdmann, P. Elliott, K.G. Ejebe, A. Döring, A.F. Dominiczak, S. Demissie, P. Deloukas, E.J. de Geus, U. de Faire, G. Crawford, F.S. Collins, Y.D. Chen, M.J. Caulfield, H. Campbell, N.P. Burtt, L.L. Bonnycastle, D.I. Boomsma, S.M. Boekholdt, R.N. Bergman, I. Barroso, S. Bandinelli, C.M. Ballantyne, T.L. Assimes, T. Quertermous, D. Altshuler, M. Seielstad, T.Y. Wong, E.S. Tai, A.B. Feranil, C.W. Kuzawa, L.S. Adair, H.A. Taylor Jr, I.B. Borecki, S.B. Gabriel, J.G. Wilson, H. Holm, U. Thorsteinsdottir, V. Gudnason, R.M. Krauss, K.L. Mohlke, J.M. Ordovas, P.B. Munroe, J.S. Kooner, A.R. Tall, R.A. Hegele, J.J. Kastelein, E.E. Schadt, J.I. Rotter, E. Boerwinkle, D.P. Strachan, V. Mooser, K. Stefansson, M.P. Reilly, N.J. Samani, H. Schunkert, L.A. Cupples, M.S. Sandhu, P.M. Ridker, D.J. Rader, C.M. van Duijn, L. Peltonen, G.R. Abecasis, M. Boehnke, S. Kathiresan, Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466 707-713 (2010)
35. R. Sharma, S. Prudente, F. Andreozzi, C. Powers, G. Mannino, S. Bacci, E.V. Gervino, T.H. Hauser, E. Succurro, L. Mercuri, E.H. Goheen, H. Shah, V. Trischitta, G. Sesti, A. Doria, The type 2 diabetes and insulin-resistance locus near IRS1 is a determinant of HDL cholesterol and triglycerides levels among diabetic subjects. Atherosclerosis 216, 157-160 (2011)