No evidence for association of insulin receptor substrate-1 Gly972Arg variant with type 2 diabetes mellitus in a mixed-ancestry population of South Africa

South African Medical Journal

Volumn 104, Issue 6, 2014, Pages 420-423

  Vergotine, Zelda ^a,c   Kengne, Andre Pascal ^b   Erasmus, Rajiv Timothy ^c   Matsha, Tandi Edith ^a  

^a CAPE PENINSULA UNIVERSITY OF TECHNOLOGY   (South Africa)

^b UNIVERSITY OF CAPE TOWN   (South Africa)

^c STELLENBOSCH UNIVERSITY   (South Africa)

Author keywords

Diabetes; Gly972Arg; Insulin receptor substrate 1; Insulin resistance

Indexed keywords

DNA; INSULIN RECEPTOR SUBSTRATE; IRS1 PROTEIN, HUMAN;

BLOOD; EPIDEMIOLOGY; ETHNOLOGY; FEMALE; GENETIC POLYMORPHISM; GENETICS; GENOTYPE; HUMAN; MALE; METABOLISM; MIDDLE AGED; NON INSULIN DEPENDENT DIABETES MELLITUS; OCEANIC ANCESTRY GROUP; PREVALENCE; RETROSPECTIVE STUDY; SOUTH AFRICA; URBAN POPULATION;

DIABETES MELLITUS, TYPE 2; DNA; FEMALE; GENOTYPE; HUMANS; INSULIN RECEPTOR SUBSTRATE PROTEINS; MALE; MIDDLE AGED; OCEANIC ANCESTRY GROUP; POLYMORPHISM, GENETIC; PREVALENCE; RETROSPECTIVE STUDIES; SOUTH AFRICA; URBAN POPULATION;

EID: 84901626192     PISSN: 02569574     EISSN: None     Source Type: Journal    
DOI: 10.7196/SAMJ.7419     Document Type: Article

References (24)

1. Rocchi S, Tartare-Deckert S, Mothe I, van Obberghen E. Identification by mutation of the tyrosine residues in the insulin receptor substrate-1 affecting association with the tyrosine phosphatase 2C and phosphatidylinositol 3-kinase. Endocrinology 1995;136(12):5291-5297. [http://dx.doi.org/10.1210/en.136.12.5291]
2. Burguete-Garcia AI, Cruz-Lopez M, Madrid-Marina V, et al. Association of Gly972Arg polymorphism of IRS1 gene with type 2 diabetes mellitus in lean participants of a national health survey in Mexico: A candidate gene study. Metabolism 2010;59(1):38-45. [http://dx.doi.org/10.1016/j.metabol.2009.07.007]
3. Clausen JO, Hansen T, Bjørbaek C, et al. Insulin resistance: Interactions between obesity and a common variant of insulin receptor substrate-1. Lancet 1995;346:397-402. [http://dx.doi.org/10.1016/S0140-6736(95)92779-4]
4. Sesti G, Federici M, Hribal ML, et al. Defects of the insulin receptor substrate (IRS) system in human metabolic disorders. FASEB J 2001;15(12):2099-2111. [http://dx.doi.org/10.1096/fj.01-0009rev]
5. Almind K, Inoue G, Pedersen O, Kahn CR. A common amino acid polymorphism in insulin receptor substrate-1 causes impaired insulin signaling. Evidence from transfection studies. J Clin Invest 1996;97(11):2569-2575. [http://dx.doi.org/10.1172/JCI118705]
6. Prudente S, Morini E, Trischitta V. Insulin signaling regulating genes: Effect on T2DM and cardiovascular risk. Nat Rev Endocrinol 2009;5:682-693. [http://dx.doi.org/10.1038/nrendo.2009.215]
7. Federici M, Pandolfi A, de Filippis EA, et al. G972R IRS-1 variant impairs insulin regulation of endothelial nitric oxide synthase in cultured human endothelial cells. Circulation 2004;109:399-405. [http://dx.doi. org/10.1161/01.CIR.0000109498.77895.6F]
8. Erasmus RT, Soita DJ, Hassan MS, et al. High prevalence of diabetes mellitus and metabolic syndrome in a South African coloured population: Baseline data of a study in Bellville, Cape Town. S Afr Med J 2012;102(11):841-844. [http://dx.doi.org/10.7196/SAMJ.5670]
9. Zemlin AE, Matsha TE, Hassan MS, Erasmus RT. HbA1c of 6.5% to diagnose diabetes mellitus-does it work for us?-the Bellville South Africa study. PLoS One 2011;6(8):e22558. [http://dx.doi.org/10.1371/journal. pone.0022558]
10. Chalmers J, MacMahon S, Mancia G, et al. 1999 World Health Organization-International Society of Hypertension Guidelines for the Management of Hypertension. Guidelines Sub-committee of the World Health Organization. Clin Exp Hypertens 1999;21(5-6):1009-1060. [http://dx.doi.org/10.3109/10641969909061028]
11. Alberti KG, Zimmet PZ. Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: Diagnosis and classification of diabetes mellitus provisional report of a WHO consultation. Diabet Med 1998;15(7):539-553. [http://dx.doi.org/10.1002/(SICI)1096-9136(199807)15:7%3C539::AIDDIA668% 3E3.0.CO;2-S].
12. Friedewald WT, Levy RI, Fredrickson DS. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem 1972;18(6):499-502.
13. Monzillo LU, Hamdy O. Evaluation of insulin sensitivity in clinical practice and in research settings. Nutr Rev 2003;61(12):397-412. [http://dx.doi.org/10.1301/nr.2003.dec.397-412]
14. Skol AD, Scott LJ, Abecasis GR, Boehnke M. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 2006;38:209-213. [http://dx.doi.org/10.1038/ng1706]
15. Jellema A, Zeegers MP, Feskens EJ, Dagnelie PC, Mensink RP. Gly972Arg variant in the insulin receptor substrate-1 gene and association with type 2 diabetes: A meta-analysis of 27 studies. Diabetologia 2003;46(7):990-995. [http://dx.doi.org/10.1007/s00125-003-1126-4]
16. Voight BF, Scott LJ, Steinthorsdottir V, et al. Twelve type 2 diabetes susceptibility loci identified through largescale association analysis. Nat Genet 2010;42:579-589. [http://dx.doi.org/10.1038/ng.609]
17. Rung J, Cauchi S, Albrechtsen A, et al. Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. Nat Genet 2009;41:1110-1115. [http://dx.doi.org/10.1038/ng.443]
18. Baier LJ, Hanson RL. Genetic studies of the etiology of type 2 diabetes in Pima Indians: Hunting for pieces to a complicated puzzle. Diabetes 2004;53(5):1181-1186. [http://dx.doi.org/10.2337/diabetes.53.5.1181]
19. Feng X, Tucker KL, Parnell LD, et al. Insulin receptor substrate 1 (IRS1) variants confer risk of diabetes in the Boston Puerto Rican Health Study. Asia Pac J Clin Nutr 2013;22(1):150-159. [http://dx.doi.org/10.6133/ apjcn.2013.22.1.09]
20. Knowler WC, Bennett PH, Hamman RF, Miller M. Diabetes incidence and prevalence in Pima Indians: A 19-fold greater incidence than in Rochester, Minnesota. Am J Epidemiol 1978;108(6):497-505.
21. Stumvoll M, Stefan N, Fritsche A, et al. Interaction effect between common polymorphisms in PPARgamma2 (Pro12Ala) and insulin receptor substrate 1 (Gly972Arg) on insulin sensitivity. J Mol Med (Berl) 2002;80(1):33-38. [http://dx.doi.org/10.1007/s001090100282]
22. Kido Y, Burks DJ, Withers D, et al. Tissue-specific insulin resistance in mice with mutations in the insulin receptor, IRS-1, and IRS-2. J Clin Invest 2000;105(2):199-205. [http://dx.doi.org/10.1172/JCI7917]
23. Deng HW. Population admixture may appear to mask, change or reverse genetic effects of genes underlying complex traits. Genetics 2001;159(3):1319-1323.
24. Lei HH, Coresh J, Shuldiner AR, Boerwinkle E, Brancati FL. Variants of the insulin receptor substrate-1 and fatty acid binding protein 2 genes and the risk of type 2 diabetes, obesity, and hyperinsulinemia in African-Americans: The Atherosclerosis Risk in Communities Study. Diabetes 1999;48(9):1868-1872. [http://dx.doi. org/10.2337/diabetes.48.9.1868]