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MKL1-184C>T gene polymorphism is associated with coronary artery disease in the Chinese Han population
1Department of Cardiology, People's Hospital of Henan Province, Zhengzhou, China yuxucn@126.com.
Insights
Genetic variations in the MKL1 gene are linked to coronary artery disease (CAD) susceptibility in the Chinese Han population. The MKL1 -184 T allele is associated with increased CAD risk and disease severity.
Area of Science:
- Genetics
- Cardiovascular Disease Research
- Population Genetics
Background:
- Coronary artery disease (CAD) is a leading cause of mortality worldwide.
- Identifying genetic factors contributing to CAD susceptibility is crucial for prevention and treatment.
- The role of specific gene polymorphisms, such as those in the MKL1 gene, in CAD risk requires further investigation.
Purpose of the Study:
- To investigate the association between MKL1 gene polymorphisms and the risk of coronary artery disease (CAD) in the Chinese Han population.
- To determine if the MKL1 -184C>T polymorphism is a susceptibility factor for CAD.
- To explore the correlation between MKL1 gene variants and the severity of coronary artery stenosis.
Main Methods:
- A case-control study was conducted with 476 CAD patients and 325 non-CAD controls from the Chinese Han population.
- Single nucleotide polymorphisms (SNPs) in the MKL1 gene were genotyped using a TaqMan SNP genotyping assay.
- Logistic regression models were employed to analyze the association between MKL1 genotypes and CAD risk, adjusting for established risk factors.
Main Results:
- The MKL1 -184C>T polymorphism was in Hardy-Weinberg equilibrium in both groups.
- The frequency of the MKL1 T allele was significantly higher in CAD patients (38.6%) compared to controls (30.8%).
- Carriers of CT or TT genotypes exhibited a significantly increased risk of CAD (OR = 1.780, 95% CI = 1.311-2.418).
- The -184 T allele was associated with an increased risk of three-vessel disease (3VD) (OR = 1.614, 95% CI = 1.259-2.07).
- Homozygosity for the T allele correlated with more severe coronary artery stenosis.
Conclusions:
- The MKL1 -184C>T polymorphism is a significant genetic susceptibility factor for coronary artery disease in the Han Chinese population of Henan Province.
- The presence of at least one T allele at the MKL1 -184 locus increases CAD risk.
- The MKL1 -184 T allele is associated with both increased CAD risk and greater severity of coronary artery stenosis.
Abstract:
We investigated genetic susceptibility to coronary artery disease (CAD) by studying the association of MKL1 gene polymorphisms with CAD in the Chinese Han population. We performed a case-control study with 476 unrelated CAD patients and 325 non-CAD controls. All SNPs were genotyped with a TaqMan SNP genotyping assay. The distribution of MKL1-184C>T gene polymorphism in each group was in Hardy-Weinberg equilibrium. The frequency of the MKL1 T allele in the CAD group was significantly higher than in the control group (38.6 vs 30.8%). After logistic regression models adjusted for CAD risk factors, the risk of CAD among CT genotypes was 1.765 times higher than among the CC genotypes [odds ration (OR) = 1.765, 95% confidence interval (CI) = 1.246-2.5], and for TT genotypes it was 1.806 times higher than for the CC genotypes (OR = 1.806, 95%CI = 1.203-2.71). In summary, genotypes with at least one T allele (CT or TT genotypes) had a significantly increased CAD risk than the CC genotypes, with a ratio of 1.78 to 1 (OR = 1.780, 95%CI = 1.311-2.418). There was a close association between -184 T allele and 3VD (OR = 1.614, 95%CI = 1.259-2.07, P < 0.05). We conclude that the -184C>T of MKL1 is an important susceptibility factor for CAD in the Han Chinese in Henan Province. Homozygosity for the T allele is not only associated with an increased risk for CAD, it is also correlated with severity of stenosis in the Chinese Han population.
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