Association of SNPs in the TIMP-2 gene and large artery atherosclerotic stroke in southern Chinese Han population

Abstract

Tissue inhibitor of matrix metalloproteinase 2 (TIMP-2) regulates the extracellular matrix degradation, which involved in vascular remodeling and dysfunction, destabilization of atherosclerotic plaque and many other pathological processes. The rupture of atherosclerotic plaque is the trigger of Large artery atherosclerotic (LAA) stroke. We speculate that the Single nucleotide polymorphisms (SNPs) in TIMP-2 may have an association with LAA stroke. To prove this hypothesis, we conducted this case-control study. 250 LAA stroke patients and 250 healthy controls were collected for the analysis of TIMP-2 polymorphisms. Among six SNPs, we detected no deviation from Hardy-Weinberg equilibrium in control group. There was a significant difference in rs4789936 T allele frequency between patient and control groups (OR = 0.68, 95% CI = 0.51–0.91, P = 0.009), which means lower risk of LAA stroke. We observed the rs4789936 had a decreased risk of LAA stroke according to the codominant (OR = 0.64, 95% CI = 0.44–0.92, P = 0.026), dominant (OR = 0.62, 95% CI = 0.43-0.88, P = 0.008), overdominant (OR = 0.68, 95% CI = 0.48–0.98, P = 0.039), log-additive (OR = 0.68, 95% CI = 0.51–0.91, P = 0.009) models analyses. However, these findings could only validate under dominant model (OR = 0.65, 95% CI = 0.42–1.00, P = 0.049) after adjustment of gender and age. The results indicate a potential association between TIMP-2 variants and LAA stroke risk in southern Chinese Han population.

<b><i>CYP24A1</i></b> rs1570669 Variant Has a Protective Effect against Tumors of the Urinary System

“…Five-milliliter venous blood was taken, and whole genome DNA was extracted. The single nucleotide polymorphisms rs2762934, rs1570669, rs6068816, and rs2296241 were detected in the case group and the control group by the MassARRAY time-of-flight mass spectrometry array SNP genotyping platform, which consistent with the method of the previously published articles [14-16].…”

Association between TIMP-2 gene polymorphism and breast cancer in Han Chinese women

“…The genotyping primers were designed with the Agena MassARRAY Assay Design 3.0 Software [17]. The Agena MassARRAY RS1000 was used for genotyping, and the related data were managed using Agena Typer 4.0 Software [13, 17, 18].…”

“…More and more research have shown that TIMP-2 mutation influence the risk of the development and persistence of numerous carcinomas and diseases [8–12]. The correlation between the genetic variants of TIMP-2 and susceptibility to stroke [13], oral squamous cell carcinoma [8], prostate cancer [9], abdominal aortic aneurysm [10], head and neck squamous cell carcinoma [11], and gastric cancer [12] have been identified in a number of studies worldwide. Taken together, these findings suggest that evaluation of TIMP-2 polymorphism in cancers may be useful as a prognostic indicator.…”

Impact of GTF2H1 and RAD54L2 gene polymorphisms on the non-small cell lung cancer with Platinum chemotherapy in high altitude areas

“…The genotyping primers were designed with the Agena MassARRAY Assay Design 3.0 Software [19]. The Agena MassARRAY RS1000 was used for genotyping, and the related data were managed using Agena Typer 4.0 Software [19][20][21].…”