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Title: Contribution of ENPP1, TCF7L2, and FTO polymorphisms to type 2 diabetes in mixed ancestry ethnic population of South Africa
Authors: Yako, Yandiswa Y. 
Madubedube, Jabulisile H. 
Kengne, Andre P. 
Erasmus, Rajiv T 
Pillay, Tahir S 
Matsha, Tandi 
Keywords: Type 2 diabetes;Genetics;ENPP1;TCF7L2;FTO;Africa
Issue Date: 2015
Publisher: African Journals Online (AJOL)
Source: Yako, YY., Madubedube, JH., Kengne, AP. et al. 2015. Contribution of ENPP1, TCF7L2, and FTO polymorphisms to type 2 diabetes in mixed ancestry ethnic population of South Africa. African Health Sciences, 15(4):1149-60. [http://dx.doi. org/10.4314/ahs].v15i4.14]
Journal: African Health Sciences 
Abstract: Background: Transcription factor 7-like 2 gene (TCF7L2), fat mass and obesity-associated gene (FTO), and ectonucleotide pyrophosphatase/phosphodiesterase gene (ENPP1) are known risk loci for type 2 diabetes (T2DM) mostly in European populations. Objectives: To assess the association of these genes with T2DM risk in a South African mixed-ancestry population. Methods: Five hundred and sixty six participants were genotyped for ENPP1-rs997509 and -rs1044498, FTO-9941349 and -rs3751812, TCF7L2-rs12255372 and -rs7903146 polymorphisms using Taqman genotyping assays and validated by auto- mated sequencing to assess the association of the polymorphisms with cardiometabolic traits.Results: In logistic regression models adjusted for age, sex, body mass index (BMI) and insulin resistance, minor allele of rs997509 was associated with a higher risk of prevalent T2DM under a recessive model [odd ratio 4.60 (95% confidence interval: 1.07 to 19.86); p = 0.040].Under additive model, the rs7903146 [1.43 (1.00 to 2.04); p= 0.053] and rs9941349 [1.43 (1.00 to 2.04); p = 0.052] minor alleles showed marginally significant associations with a high risk of T2DM. However, only the rs7903146 alleles (p=0.011) and genotypes (p=0.025) distributions were statistically significantly different between dia- betic and non-diabetic individuals. Conclusion: Our findings demonstrate that ENPP1, TCF7L2, and FTO may predispose to T2DM in the mixed-ancestry population.
ISSN: 1680-6905
DOI: http://dx.doi. org/10.4314/ahs
Appears in Collections:Appsc - Journal Articles (not DHET subsidised)

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