Single nucleotide polymorphisms rs102313, rs118231 and rs201832 of CTEP TaqIB gene correlated with lipid metabolism abnormalities and cerebral infarction in patients with atherosclerosis

Z.-H. Zhao, Y.-R. Wang, R. Li, L. Xiao, Y. Xie, N.-C. Xie, H.-B. Liu

Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. liuhongbo0337@zzu.edu.cn

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• Neurology

OBJECTIVE: The purpose of this study was to investigate the correlations of cholesterol ester transfer protein (CTEP) TaqIB gene polymorphism with lipid metabolism abnormalities and cerebral infarction (CI) in patients with atherosclerosis (AS).

PATIENTS AND METHODS: A case-control study was conducted on 100 AS patients complicated with (CI) as AS+CI group, and 200 AS patients with matched age, gender and race as controls (AS group). Single nucleotide polymorphisms (SNPs) rs102313, rs118231 and rs201832 in the promoter region of CTEP TaqIB gene were classified by conformational differential gel electrophoresis. Then, Chi-square test was carried out to determine whether the distribution frequency of CTEP TaqIB genotypes conforms to the law of genetic equilibrium. In the meantime, the correlations of gene polymorphisms and allelotypes in the promoter region of CTEP TaqIB with CI and lipid metabolism abnormalities in AS patients were analyzed.

RESULTS: Hardy-Weinberg genetic equilibrium analysis showed that the three polymorphisms of CTEP TaqIB gene were in accordance with the genetic equilibrium distribution (p>0.05). Moreover, the results of gene association analysis revealed that the polymorphisms rs102313 and rs118231 and allelotypes in the promoter region of CTEP TaqIB gene were correlated with CI in AS patients (p<0.05). Specifically, AS patients with GG genotype and allele G at rs102313 and those with TT genotype and allele T at rs118231 had a higher risk of CI (p<0.05). Besides, the polymorphism rs102313 in the promoter region of CTEP TaqIB gene was markedly related to lipid metabolism abnormalities in AS patients (p<0.05).

CONCLUSIONS: The polymorphisms rs102313 and rs118231 in the promoter region of CTEP TaqIB gene are associated with CI in AS patients, and the polymorphism rs102313 is remarkably correlated with lipid metabolism abnormalities in AS patients.

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