An Association Study on ADAM10 Promoter Polymorphisms and Atherosclerotic Cerebral Infarction in a Chinese Population. (15th June 2013)

• Record Type: Journal Article
• Authors: Li, You; Liao, Feng; Yin, Xiao‐Jian; Cui, Li‐Li; Ma, Guo‐Da; Nong, Xiao‐Xian; Zhou, Hai‐Hong; Chen, Yan‐Fang; Zhao, Bin; Li, Ke‐Shen
• Is Part Of: CNS neuroscience & therapeutics. Volume 19:Number 10(2013)
• Page Start: 785
• Page End: 794
• Publication Date: 2013-06-15
• Subjects: Neuropharmacology -- Periodicals; Central nervous system -- Diseases -- Effect of drugs on -- Periodicals; 612.8
• DOI: 10.1111/cns.12136
• Languages: English
• ISSNs: 1755-5930

Abstract

<abstract abstract-type="main" id="cns12136-abs-0001"> <title>Summary</title> <sec id="cns12136-sec-0001" sec-type="section"> <title>Aim</title> <p>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 <italic>ADAM10</italic> gene polymorphisms with susceptibility to diseases, no genetic association studies of <italic>ADAM10</italic> gene variability with atherosclerotic cerebral infarction (ACI) have been conducted. The aim of this study was to analyze the potential association between <italic>ADAM10</italic> promoter polymorphisms and ACI.</p> </sec> <sec id="cns12136-sec-0002" sec-type="section"> <title>Methods</title> <p>The associations between rs653765 and rs514049 polymorphisms of the <italic>ADAM10</italic> promoter and the possible risk of ACI were assessed among 347 patients with ACI and 299 matched healthy individuals in a case–control study.</p> </sec> <sec id="cns12136-sec-0003" sec-type="section"> <title>Results</title> <p>Overall, there was a significant difference in the genotypes frequencies of rs653765 (<italic>P </italic>= 0.04) between the ACI and control subjects. In addition, the rs653765 mutated allele of <italic>ADAM10</italic> was significantly associated with increased ADAM10 expression in patients with ACI (<italic>P </italic>= 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.</p> </sec> <sec id="cns12136-sec-0004" sec-type="section"> <title>Conclusion</title> <p>Our findings indicate a positive association between the rs653765 polymorphism of <italic>ADAM10</italic> 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.</p> </sec> </abstract>