The research on association of copy number variation in chromosome 9p21 region with atherothrombotic stroke in the Han Chinese population

Abstract

Background/purposeThe copy number variants (CNVs) contain more genetic information compared with SNPs. The aim of this study was to elucidate whether the CNVs in Chromosome 9p21 region are associated with increased risk of Atherothrombotic stroke (ATS) in a Han Chinese population. MethodsA case-controlled association study was conducted in which only patients with ATS were enrolled. The CNVs were detected by the method of multiplex competitive amplification. The differences in distribution of CNVs between cases and controls were analyzed using univariate and multivariate logistic regression analysis. Subgroup analyses were also carried out to determine whether the effect of the CNVs was specific to age and gender among the subjects. ResultsA total of 274 ATS patients and 282 health controls were included in the present study. 4 genes (ANRIL, CDKN2A, CDKN2B, and MTAP) including eight gene fragments in all were analyzed for CNV. The results showed that the copied number of most CNV in the 4 genes is two. There was no significant difference of CNV frequency between groups. ConclusionsThe obtained data suggested a negative association between CNV of the four genes and ATS. It is necessary to perform sequencing analyses across the entire 9p21 region for detecting rare or uncommon CNV.