Association between CTSS gene polymorphism and the risk of acute atherosclerotic cerebral infarction in Chinese population: a case-control study

Abstract

Objective: 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. Methods: 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 CTSS of subjects was analyzed by PCR-Sanger sequencing. Results: The proportion of carriers with mutant T allele at rs774320676 locus and mutant G allele at rs928508030 locus of CTSS in study group was significantly higher than the proportion in control group (P=0.000, adjusted odds ratio (OR) = 1.332, 95% confidence interval (CI) = 1.200-1.460; P<0.001, adjusted OR = 1.185, 95% CI = 1.055-1.314; P=0.002). The T allele at rs774320676 locus and the G allele at rs928508030 locus of CTSS were independent risk factors for acute atherosclerotic cerebral infarction (OR = 2.534, 95% CI = 1.020-4.652, P=0.006; OR = 2.016, 95% CI = 1.031-4.385, P=0.031). Conclusion: The single nucleotide polymorphisms (SNPs) of rs774320676 and rs928508030 of CTSS gene were related with risk for acute atherosclerotic cerebral infarction. The T allele at rs774320676 locus and G allele at rs928508030 locus of CTSS were genetic susceptibility genes of acute atherosclerotic cerebral infarction.

Keywords: Atherosclerosis; Cathepsin S; Cerebral infarction; Single nucleotide polymorphism.

Figure 1. The results of Sanger sequencing of the CTSS SNPs loci

(A) AA genotype at rs774320676 locus; (B) AT genotype at rs774320676 locus; (C) TT genotype at rs774320676 locus; (D) GG genotype at rs768437857 locus; (E) GT genotype at rs768437857 locus; (F) TT genotype at rs768437857 locus; (G) AA genotype at rs928508030 locus; (H) AG genotype at rs928508030 locus; (I) GG genotype at rs928508030 locus; (J) CC genotype at rs2275235 locus; (K) CT genotype at rs2275235 locus; (L) TT genotype at rs2275235 locus.