title: Genetic variability in adapter proteins with APPL1/2 is associated with the risk of coronary artery disease in type 2 diabetes mellitus in Chinese Han population.
abstract: BACKGROUND
  Adaptor proteins containing PH domain, PTB domain, and leucine zipper motif 1 and 2 (APPL1/2) play a key role in cell proliferation in many tissues. APPL1 or APPL2 as an adaptor for adiponectin receptors mediates the signaling pathway of adiponectin which acts as an anti-atherosclerotic adipokine. This study aimed to investigate whether genetic variations in the APPL1/2 genes affect the risk of coronary artery disease (CAD) in Chinese patients with type 2 diabetes mellitus (T2DM).
  
  
  METHODS
  Seven haplotype-tagging single nucleotide polymorphisms (tag-SNPs) were selected from CHB HapMap database (Phase II) and total 203 CAD-positive cases and 106 CAD-negative controls with T2DM were genotyped for the 7 tag-SNPs by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay.
  
  
  RESULTS
  The minor allele G of rs4640525 at APPL1 locus was protective from CAD in patients with T2DM, with the carriers of genotype CC at higher risk of CAD compared with non-carriers (OR = 2.830, 95%CI 1.285 - 6.230, P = 0.010; OR' = 4.992, 95%CI = 1.758 - 14.173, P' = 0.003, after adjustment for the other known CAD risk factors); the homozygotes of AA at rs11112412 in APPL2 gene had higher risk of CAD compared with those of GG (adjusted OR' = 5.697, 95%CI 1.006 - 32.257, P' = 0.049).
  
  
  CONCLUSIONS
  Genetic variation(s) in APPL1/2 may be associated with CAD risk in T2DM in Chinese population.
authors.affiliation: Department of Endocrinology, Peking University First Hospital, Beijing 100034, China. mxiaowei@yahoo.com
authors.forename: Xiao-Wei
authors.initials: XW
authors.lastname: Ma
authors.forename: Shan
authors.initials: S
authors.lastname: Ding
authors.forename: Xiao-Dan
authors.initials: XD
authors.lastname: Ma
authors.forename: Nan
authors.initials: N
authors.lastname: Gu
authors.forename: Xiao-Hui
authors.initials: XH
authors.lastname: Guo
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000368:Aged; D044466:Asian People; D003324:Coronary Artery Disease / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: C464801:APPL1 protein, human; C528555:APPL2 protein, human; D048868:Adaptor Proteins, Signal Transducing