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African Health Sciences
Makerere University Medical School
ISSN: 1680-6905
EISSN: 1680-6905
Vol. 15, No. 4, 2015, pp. 1149-1160
Bioline Code: hs15160
Full paper language: English
Document type: Research Article
Document available free of charge

African Health Sciences, Vol. 15, No. 4, 2015, pp. 1149-1160

 en Contribution of ENPP1, TCF7L2, and FTO polymorphisms to type 2 diabetes in mixed ancestry ethnic population of South Africa
Yako, Yandiswa Y.; Madubedube, Jabulisile H.; Kengne, Andre P.; Erasmus, Rajiv T.; Pillay, Tahir S. & Matsha, Tandi E.


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 automated 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 diabetic and non-diabetic individuals.
Conclusion: Our findings demonstrate that ENPP1, TCF7L2, and FTO may predispose to T2DM in the mixed-ancestry population.

Type 2 diabetes; genetics; ENPP1; TCF7L2; FTO; Africa

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