Department of Neurology, Xixi Hospital of Hangzhou, Hengbu Street 2, Xihu District, Hangzhou, Zhejiang 310023, China.
Department of Clinical Laboratory, Xixi Hospital Of Hangzhou, Hengbu Street 2, Xihu District, Hangzhou, Zhejiang 310023, China.
Biosci Rep. 2018 Nov 20;38(6). doi: 10.1042/BSR20180586. Print 2018 Dec 21.
To investigate the association between the gene polymorphisms of rs774320676, rs768437857, rs928508030, and rs2275235 loci of Cathepsin S (CTSS) and risk of acute atherosclerotic cerebral infarction. A total of 315 patients with acute atherosclerotic cerebral infarction (study group) and 220 healthy subjects (control group) were enrolled in the present study. The genetic polymorphism of rs774320676, rs768437857, rs928508030, and rs2275235 loci of of subjects was analyzed by PCR-Sanger sequencing. The proportion of carriers with mutant T allele at rs774320676 locus and mutant G allele at rs928508030 locus of in study group was significantly higher than the proportion in control group (=0.000, adjusted odds ratio (OR) = 1.332, 95% confidence interval (CI) = 1.200-1.460; <0.001, adjusted OR = 1.185, 95% CI = 1.055-1.314; =0.002). The T allele at rs774320676 locus and the G allele at rs928508030 locus of were independent risk factors for acute atherosclerotic cerebral infarction (OR = 2.534, 95% CI = 1.020-4.652, =0.006; OR = 2.016, 95% CI = 1.031-4.385, =0.031). The single nucleotide polymorphisms (SNPs) of rs774320676 and rs928508030 of gene were related with risk for acute atherosclerotic cerebral infarction. The T allele at rs774320676 locus and G allele at rs928508030 locus of were genetic susceptibility genes of acute atherosclerotic cerebral infarction.
为了探讨组织蛋白酶 S（CTSS）基因 rs774320676、rs768437857、rs928508030 和 rs2275235 位点的基因多态性与急性动脉粥样硬化性脑梗死风险之间的关系。本研究共纳入 315 例急性动脉粥样硬化性脑梗死患者（研究组）和 220 例健康受试者（对照组）。采用 PCR-Sanger 测序法分析受试者 rs774320676、rs768437857、rs928508030 和 rs2275235 位点的遗传多态性。研究组 rs774320676 位点突变 T 等位基因和 rs928508030 位点突变 G 等位基因携带者的比例明显高于对照组（=0.000，校正优势比（OR）=1.332，95%置信区间（CI）=1.200-1.460；<0.001，校正 OR=1.185，95%CI=1.055-1.314；=0.002）。CTSS 基因 rs774320676 位点 T 等位基因和 rs928508030 位点 G 等位基因是急性动脉粥样硬化性脑梗死的独立危险因素（OR=2.534，95%CI=1.020-4.652，=0.006；OR=2.016，95%CI=1.031-4.385，=0.031）。CTSS 基因 rs774320676 和 rs928508030 单核苷酸多态性（SNP）与急性动脉粥样硬化性脑梗死风险相关。rs774320676 位点 T 等位基因和 rs928508030 位点 G 等位基因是急性动脉粥样硬化性脑梗死的遗传易感基因。
