Association between gene PPARG rs1801282 Pro12Ala and type 2 diabetes in Novosiborsk region and other populations

Type 2 diabetes mellitus (T2DM) is a genetically heterogeneous, multifactorial disease that is involved in the pathogenesis of insulin resistance and β-cell dysfunction. The aim of the study was to analyze the associations between the frequencies of Pro12Ala polymorphisms (rs1801282) in PPARG gene and T2DM in Novosibirsk region and other populations. The study included 391 T2DM patients and 556 residents of Novosibirsk region without disorders in carbohydrate metabolism. Identification of alleles and genotypes was performed by using the technology TaqMan, allele-specific PCR with real-time detection of the results. The study found that the distributions of the T2DM risk alleles in PPARG gene (rs1801282) in T2DM and control groups were significantly different (OR [CI95%]=1.43 [1.10-1.86], p=7x10 -3). The main genotype was Pro12Pro in Novosibirsk region, as well as in other populations. The presence of the risk allele 12Pro of rs1801282 polymorphism in PPARG gene was associated with the development of T2DM in Novosibirsk region where it increased risk of T2DM to 1.43. The frequency of 12Ala allele was 17% which corresponded to its frequency in the European population.