title: A novel polymorphism in protein kinase AMP-activated catalytic subunit alpha 2 (PRKAA2) is associated with type 2 diabetes in the Han Chinese population.
abstract: 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.
authors.affiliation: Department of Pharmacy, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing, China.
authors.forename: Ji-Zhong
authors.initials: JZ
authors.lastname: Shen
authors.affiliation: Department of Pharmacy, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing, China.
authors.forename: Wei-Hong
authors.initials: WH
authors.lastname: Ge
authors.affiliation: Department of Pharmacy, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing, China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Fang
authors.affiliation: Department of Pharmacy, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing, China.
authors.forename: Hang
authors.initials: H
authors.lastname: Liu
mesh_terms: D055372:AMP-Activated Protein Kinases / Q000235:genetics*; D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics; D001786:Blood Glucose / Q000378:metabolism; D002681:China; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D001786:Blood Glucose; C526181:PRKAA2 protein, human; D055372:AMP-Activated Protein Kinases
keywords: 2型糖尿病; AMP-activated protein kinase; AMP-活化蛋白激酶; polymorphism; protein kinase AMP-activated catalytic subunit alpha 2 (PRKAA2); type 2 diabetes mellitus; 多态性; 蛋白激酶AMP-活化的催化亚基α2(PRKAA2)