[Association of MMP-14 gene polymorphism with cerebral infarction - a case-control study]
Cai Li1, Xiaoping Jin, Min Zhu
1Department of Neurology, Taizhou Hospital, Affiliated Hospital of Wenzhou Medical College, Taizhou, Zhejiang 317000, P.R. China. jinxp155@aliyun.com.
Objective:
To investigate the association between cerebral infarction (CI) and single nucleotide polymorphism (SNP) in the exon of membrane-type 1 matrix metalloproteinase (MMP-14) gene in Chinese Han population.
Methods:
Five hundred seventy four patients with CI and 463 healthy individuals were recruited. Serum MMP-14 level was measured with enzyme-linked immunosorbent assay (ELISA). rs1042704 and rs2236307 polymorphisms of the MMP-14 gene were genotyped with a TaqMan assay. Multivariate logistic regression was carried out to analyze the risk factors of CI.
Results:
A significant lower risk of CI was found in individuals with MMP-14 rs2236307 TC and CC genotypes (vs. TT genotype: P<0.05). The frequencies of MMP-14 rs2236307 C allele were significantly different between the CI group (37.46%) and the control group (43.95%) (P=0.003). Serum level of MMP-14 was higher in the CI group (P=0.003) and was also higher in the group with MMP-14 rs2236307 TT genotype compared with those with CT and CC genotypes (P=0.000; P=0.009). Logistic regression analysis indicated that the MMP-14 rs2236307 CT+CC genotypes was a protective factor, and that history of hypertension, smoking status, triglycerides, diastolic blood pressure and systolic blood pressure were the independent risk factors of CI (AOR:2.027, 1.302, 1.296, 1.434, 2.087; P<0.05).
Conclusion:
The rs2236307 polymorphism of MMP-14 gene is associated with CI, for which the C allele maybe a protective factor. No association of MMP-14 gene rs1042704 polymorphism with CI has been found.
Insights
The membrane-type 1 matrix metalloproteinase (MMP-14) gene rs2236307 polymorphism is linked to cerebral infarction (CI) risk in the Chinese Han population. The C allele may offer protection against CI, while rs1042704 shows no association.
Area of Science:
- Genetics
- Cardiovascular Disease Research
- Biochemistry
Background:
- Cerebral infarction (CI) is a major cause of disability and mortality worldwide.
- Genetic factors, including single nucleotide polymorphisms (SNPs), are implicated in CI susceptibility.
- Membrane-type 1 matrix metalloproteinase (MMP-14) plays a role in extracellular matrix remodeling and has been investigated in various diseases.
Purpose of the Study:
- To investigate the association between specific single nucleotide polymorphisms (SNPs) in the membrane-type 1 matrix metalloproteinase (MMP-14) gene and cerebral infarction (CI).
- To determine the role of MMP-14 gene polymorphisms, specifically rs1042704 and rs2236307, in the risk of CI within the Chinese Han population.
- To examine the relationship between serum MMP-14 levels, genotypes, and CI risk.
Main Methods:
- Case-control study involving 574 CI patients and 463 healthy controls from the Chinese Han population.
- Serum MMP-14 levels were quantified using enzyme-linked immunosorbent assay (ELISA).
- Genotyping for MMP-14 gene polymorphisms (rs1042704 and rs2236307) was performed using TaqMan assays, followed by multivariate logistic regression analysis.
Main Results:
- Individuals with MMP-14 rs2236307 TC and CC genotypes exhibited a significantly lower risk of CI compared to the TT genotype (P<0.05).
- The frequency of the MMP-14 rs2236307 C allele was significantly lower in the CI group (37.46%) than in the control group (43.95%) (P=0.003).
- Elevated serum MMP-14 levels were observed in the CI group and in individuals with the rs2236307 TT genotype, suggesting a potential protective role for the C allele.
Conclusions:
- The rs2236307 polymorphism in the MMP-14 gene is significantly associated with cerebral infarction (CI) in the Chinese Han population.
- The C allele of MMP-14 rs2236307 may act as a protective factor against CI.
- No association was found between the MMP-14 gene rs1042704 polymorphism and CI risk.
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