Rs7903146 variant of TCF7L2 gene and rs18012824 variant of PPARG2 gene (Pro12Ala) are associated with type 2 diabetes mellitus in Novosibirsk population

Сахарный диабет

Ekaterina Alexandrovna Sokolova¹  Maksim Leonidovich Filipenko¹  Irina Arkad'evna Bondar'²  Olesya Yur'evna Shabel'nikova³ 

[1] Institute of Chemical Biology and Fundamental Medicine, Novosibirsk;Novosibirsk State Medical University, Novosibirsk;Novosibirsk State Regional Hospital, Novosibirsk;

关键词: type 2 diabetes mellitus;    genetics;    beta-cell dysfunction;    insulin resistance;    pparg2;    tcf7l2;   

DOI  :  10.14341/DM2013417-22

来源: DOAJ

【 摘 要 】

Aim. To investigate the association of polymorphisms in TCF7L2 and PPARG2 genes with type 2 diabetes mellitus (T2DM) in Novosibirsk population. Materials and Methods.We examined 391 patients with T2DM and 556 individuals with normal glucose metabolism. Allelic identification was performed with TaqMan technique, implementing allele-specific real-time PCR. Results. Analysis shows that allelic frequency distribution of rs1801282 variant of PPARG2 gene and rs7903146 variant of TCF7L2 differs significantly between the study and control groups (OR [CI 95%]=1.44 [1.12?1.85], p=0.005 and OR [CI 95%]=1.57 [1.17?2.10], p=0.003, respectively). T2DM patients with T/T genotype of rs7903146 variant of TCF7L2 gene had lower BMI (p=0.02). Observed combination of risk alleles reached 99%. Combined beta-cell dysfunction and insulin resistance genotypes were identified in 56% of tested subjects, isolated insulin resistance ? in 42.2% of subjects, and isolated beta-cell dysfunction ? in 0.8% of subjects. Conclusion. Our data shows that carrier state of 12Pro rs1801284 variant of PPARG2 gene and T-allele rs7903146 variant of TCF7L2 gene are associated with T2DM in Novosibirsk population, increasing its risk 1.44 and 1.57 times, respectively. Combination of these polymorphisms was observed in 99% of patients with T2DM.

【 授权许可】

Unknown