PMID- 25214251 OWN - NLM STAT- MEDLINE DCOM- 20150908 LR - 20211203 IS - 0256-9574 (Print) VI - 104 IP - 6 DP - 2014 May 12 TI - No evidence for association of insulin receptor substrate-1 Gly972Arg variant with type 2 diabetes mellitus in a mixed-ancestry population of South Africa. PG - 420-3 LID - 10.7196/samj.7419 [doi] AB - BACKGROUND: The most common single-nucleotide polymorphism in the insulin receptor substrate-1 (IRS1) gene is Gly972Arg, which is associated with a 25% increased risk of developing diabetes. The mixed-ancestry population of South Africa (SA) has one of the highest prevalences of type 2 diabetes mellitus (T2DM) in Africa. OBJECTIVE: To report the frequency of IRS1 Gly972Arg and investigate its associations with cardiometabolic traits. METHODS: DNA from 856 mixed-ancestry adults drawn from an urban community of Bellville South, Cape Town, SA, was genotyped by two independent laboratories. Oral glucose tolerance tests were performed and cardiometabolic risk factors measured. RESULTS: A total of 237 (24.7%) participants had T2DM. The IRS1 Gly972Arg variant was present in 7.9% of the individuals studied and only one participant (non-diabetic) carried the homozygous A/A variant. In linear and logistic regression analyses, Gly972Arg was not associated with obesity, insulin resistance/sensitivity or T2DM. CONCLUSIONS: The prevalence of the Gly972Arg variant in the mixed-ancestry population of SA is comparable to that reported in African Americans, but its presence is not associated with cardiometabolic traits. This suggests that the Gly972Arg variant may not aid diabetes risk evaluation in this setting, nor can such information help explain the high prevalence of diabetes previously reported in this population. FAU - Vergotine, Zelda AU - Vergotine Z AD - Department of Biomedical Sciences, Faculty of Health and Wellness Sciences, Cape Peninsula University of Technology, Cape Town, South Africa; Division of Chemical Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, Cape Town, South Africa. vergotinez@cput.ac.za. FAU - Kengne, Andre Pascal AU - Kengne AP FAU - Erasmus, Rajiv Timothy AU - Erasmus RT FAU - Matsha, Tandi Edith AU - Matsha TE LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20140512 PL - South Africa TA - S Afr Med J JT - South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde JID - 0404520 RN - 0 (IRS1 protein, human) RN - 0 (Insulin Receptor Substrate Proteins) RN - 9007-49-2 (DNA) SB - IM CIN - S Afr Med J. 2014 Dec;104(12):837. PMID: 26042257 MH - DNA/*genetics MH - Diabetes Mellitus, Type 2/blood/ethnology/*genetics MH - Female MH - Genotype MH - Humans MH - Insulin Receptor Substrate Proteins/*genetics/metabolism MH - Male MH - Middle Aged MH - *Native Hawaiian or Other Pacific Islander MH - *Polymorphism, Genetic MH - Prevalence MH - Retrospective Studies MH - South Africa/epidemiology MH - Urban Population EDAT- 2014/09/13 06:00 MHDA- 2015/09/09 06:00 CRDT- 2014/09/13 06:00 PHST- 2013/08/26 00:00 [received] PHST- 2013/10/17 00:00 [accepted] PHST- 2014/09/13 06:00 [entrez] PHST- 2014/09/13 06:00 [pubmed] PHST- 2015/09/09 06:00 [medline] AID - 10.7196/samj.7419 [doi] PST - epublish SO - S Afr Med J. 2014 May 12;104(6):420-3. doi: 10.7196/samj.7419.