PPARγ gene polymorphisms in black South African females with Type 2 diabetes mellitus

[摘要] English: Diabetes mellitus is a lifestyle disease, with complications affecting quality of life. It isalso increasing in prevalence on a global scale. Type 2 diabetes mellitus (T2DM)accounts for more than 90% of all diabetes cases and is a growing public healthconcern. Diabetes mellitus is a complex disease, genetically based butenvironmentally influenced. Nutrition therapy, based on knowledge of geneticcomposition, can be used in the prevention of a chronic disease like T2DM. One ofthe genes associated with T2DM which plays a significant role in insulin metabolismis the peroxisome proliferator-activated receptor-gamma 2 (PPARy) gene. ThePro12Ala polymorphism of the PPARy gene is associated with T2DM in variousstudies around the world. In this study, the presence of the Pro12Ala allele in ablack, female population with T2DM in the Free State, South Africa, wasinvestigated, with the purpose of describing the association between Pro12AlaPPARγ gene polymorphisms and body adiposity in the study population and theassociation between Pro12Ala PPARγ gene polymorphisms and blood glucosecontrol (measured as HbA1c levels). A total of 72 black, female participants wereincluded in the study. The data obtained from the study showed that of the 72participants, 71 had the Pro/Pro (C/C) allele and only one was a heterozygote withthe Pro/Ala (C/G) allele. The presence of a homozygotic PPARy Ala (G/G) genotypewas not found in this study. In this population body mass index (BMI) and total bodyfat percentage was very high, factors which are strongly associated with the risk andincidence of T2DM. Blood glucose control was poor, and showed no association withage, BMI or body adiposity. The allele frequency of this SNP is not known in theBlack South African population and even though the sample used in this studyrepresents a small subset of the population and is limited by the absence of a nondiabeticcontrol group, it can be derived from the results that it is likely that theAla/Ala (G/G) genotype is rare in the population. The PPARy Pro/Ala polymorphismcan therefore not be regarded as a direct contributing factor to the development ofT2DM in this population and can therefore also not be regarded as a suitable geneticmarker for early risk prediction of T2DM.

[发布机构] University of the Free State