title: An association study on ADAM10 promoter polymorphisms and atherosclerotic cerebral infarction in a Chinese population.
abstract: OBJECTIVE
  Dysregulation of the activity of the disintegrin/metalloproteinase ADAM10 could contribute to the development of atherosclerosis. Although a number of genetic studies have focused on the association of ADAM10 gene polymorphisms with susceptibility to diseases, no genetic association studies of ADAM10 gene variability with atherosclerotic cerebral infarction (ACI) have been conducted. The aim of this study was to analyze the potential association between ADAM10 promoter polymorphisms and ACI.
  
  
  METHODS
  The associations between rs653765 and rs514049 polymorphisms of the ADAM10 promoter and the possible risk of ACI were assessed among 347 patients with ACI and 299 matched healthy individuals in a case-control study.
  
  
  RESULTS
  Overall, there was a significant difference in the genotypes frequencies of rs653765 (P = 0.04) between the ACI and control subjects. In addition, the rs653765 mutated allele of ADAM10 was significantly associated with increased ADAM10 expression in patients with ACI (P = 0.032). In contrast, the allele frequency of rs514049 was not statistically associated with ACI, and the rs514049 variant A > C did not affect the expression of ADAM10 either.
  
  
  CONCLUSIONS
  Our findings indicate a positive association between the rs653765 polymorphism of ADAM10 and ACI, as well as a negative result for rs514049. In addition, a significant increase in ADAM10 expression was observed in patients with ACI carrying the rs653765 C > T mutation. This new knowledge about ADAM10 might be clinically important and confirm a role for ADAM10 in the pathophysiology of ACI, with potentially important therapeutic implications.
authors.affiliation: Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases, Affiliated Hospital of Guangdong Medical College, Zhanjiang, China.
authors.forename: You
authors.initials: Y
authors.lastname: Li
authors.forename: Feng
authors.initials: F
authors.lastname: Liao
authors.forename: Xiao-Jian
authors.initials: XJ
authors.lastname: Yin
authors.forename: Li-Li
authors.initials: LL
authors.lastname: Cui
authors.forename: Guo-Da
authors.initials: GD
authors.lastname: Ma
authors.forename: Xiao-Xian
authors.initials: XX
authors.lastname: Nong
authors.forename: Hai-Hong
authors.initials: HH
authors.lastname: Zhou
authors.forename: Yan-Fang
authors.initials: YF
authors.lastname: Chen
authors.forename: Bin
authors.initials: B
authors.lastname: Zhao
authors.forename: Ke-Shen
authors.initials: KS
authors.lastname: Li
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D000072197:ADAM10 Protein; D000368:Aged; D000369:Aged, 80 and over; D053829:Amyloid Precursor Protein Secretases / Q000235:genetics*; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D050197:Atherosclerosis / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D002544:Cerebral Infarction / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies / Q000379:methods; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D011401:Promoter Regions, Genetic / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D053829:Amyloid Precursor Protein Secretases; D051722:ADAM Proteins; D000072197:ADAM10 Protein; C491236:ADAM10 protein, human
keywords: ADAM10; Atherosclerotic cerebral infarction; Polymorphism