A novel polymorphism in protein kinase AMP-activated catalytic subunit alpha 2 (PRKAA2) is associated with type 2 diabetes in the Han Chinese population

作者：Shen, Ji-Zhong^*; Ge, Wei-Hong; Fang, Yun; Liu, Hang

来源：Journal of Diabetes, 2017, 9(6): 606-612.

DOI：10.1111/1753-0407.12449

• AMP-activated protein kinase
• polymorphism
• protein kinase AMP-activated catalytic subunit alpha 2 (PRKAA2)
• type 2 diabetes mellitus

Background: It has been proposed that the energy-sensing enzyme AMP-activated protein kinase (AMPK) is a key agent in the pathophysiology of type 2 diabetes mellitus (T2DM). The gene encoding protein kinase AMP-activated catalytic subunit alpha 2 (PRKAA2) is located at one of the Asian T2DM loci (1p32). Therefore, the aim of the present study was to test for the association of common variants in PRKAA2 with T2DM in the Han Chinese population. Methods: We genotyped 221 T2DM patients and 111 controls to assess possible associations of two tagging single nucleotide polymorphisms (tSNPs) in the PRKAA2 gene with T2DM. Results: The clinical characteristics of T2DM cases compared with controls differed significantly. No significant association was observed with the rs2143754 polymorphism whereas the rs2746342 polymorphism exhibited a highly significant association with T2DM. Fasting plasma glucose (FPG) of subjects carrying the G/G genotype of the rs2746342 polymorphism was higher than that of subjects carrying the T allele (P = 0.0049). These associations were magnified in the presence of the G/G genotype of the rs2143754 polymorphism. Conclusions: The rs2746342 polymorphism is significantly associated with susceptibility to T2DM and seems to interact with the rs2143754 polymorphism in the modulation of FPG in the Han Chinese population.

• 出版日期2017-6
• 单位南京大学