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[Correlation of CD40 gene polymorphisms with acute coronary syndrome, hypertension and diabetes]
Yan Li1, Cai-Xia Tian, Ming Wang
1Department of Clinical Laboratory Science, Renmin Hospital of Wuhan University, Wuhan 430060, China. yanlitf@yahoo.com.cn
Insights
The CD40-1C/T gene variant increases the risk of acute coronary syndrome (ACS) in Chinese individuals. This risk is amplified when combined with hypertension or diabetes.
Area of Science:
- Genetics and Cardiovascular Disease
- Molecular Biology
- Population Genetics
Background:
- The CD40 gene plays a role in immune responses and inflammation, which are implicated in the pathogenesis of atherosclerosis.
- Genetic variations in the CD40 gene may influence an individual's susceptibility to cardiovascular diseases.
Purpose of the Study:
- To examine the association between CD40 gene polymorphisms (CD40-E1SNP -1C/T and CD40-E4SNP) and the risk of acute coronary syndrome (ACS).
- To investigate potential gene-environment interactions between CD40 polymorphisms and hypertension or diabetes in the Chinese Han population.
Main Methods:
- Genotyping of CD40-E1SNP (-1C/T) and CD40-E4SNP using polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing.
- Analysis of allele and genotype frequencies in 160 ACS patients and 92 controls.
- Multivariate logistic regression models to assess gene-environment interactions with hypertension and diabetes.
Main Results:
- The CD40-1C allele frequency was significantly higher in ACS patients (0.606) compared to controls (0.489) (P < 0.01).
- The C allele was associated with an increased risk of ACS (OR = 1.608, P = 0.011).
- Significant gene-environment interactions were observed: C allele carriers with hypertension had an OR of 5.71 (P < 0.05), and those with diabetes had an OR of 2.35 (P < 0.01).
- CD40-E4SNP expression was not detected in the study population.
Conclusions:
- CD40-1C/T polymorphism is a risk factor for ACS in the Chinese population.
- The presence of the -1C allele confers a higher risk of ACS, particularly when co-occurring with hypertension or diabetes.
- The CD40-E4SNP may not be present or relevant in the Chinese population studied.
Objective:
To investigate the correlation of CD40-E1SNP (-1C/T) and CD40-E4SNP with acute coronary syndrome (ACS), hypertension and diabetes in Chinese Han population.
Methods:
The allele frequencies of CD40-E1SNP (-1C/T) and CD40-E4SNP were assayed by polymerase chain reaction-restriction fragment length polymorphism and DNA sequence technology in 160 definite ACS patients and 92 controls with negatively coronary arteriography. Multivariate logistic regression models were used to analyzed the interaction between the CD40 gene polymorphisms and hypertension and diabetes.
Results:
CD40-1C allele frequency of the ACS group was 0.606, significantly higher than that of the control group (0.489, P < 0.01), while the T allele frequency of the ACS group was 0.394, significantly lower than that of the control group (0.511, P < 0.01). The frequency of CC genotype was much higher in the ACS group than in the control group (P < 0.01). C allele increased the risk of ACS (OR = 1.608, 95% CI: 1.12 - 2.32, P = 0.011). After adjustment of confounding variables, such as age, sex, and body mass index, the binary logistic analysis showed a significant gene-environment interaction (P < 0.05). The OR value were: 1.608 for C allele (95% CI: 1.12 - 2.32, P < 0.05), 5.71 for C allele-with hypertension (95% CI: 1.12 - 29.08, P < 0.05), 1.44 for C allele-without diabetes (95% CI: 1.12 - 5.13, P < 0.01), and 2.35 for C allele-with diabetes (95% CI: 1.47 - 4.82, P < 0.01). Expression of CD40-E4SNP was not found in these subjects.
Conclusion:
CD40-1C/T polymorphism is associated with ACS in Chinese people. The -1C allele carriers have higher risk of ACS if they get hypertension or diabetes; CD40-E4SNP may not exist in Chinese people.
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