Background: Recently, the C1019T polymorphism in the human gene encoding connexin 37 (CX37, encoded by GJA4) has been reported to be associated with coronary artery disease (CAD)/myocardial infarction in different racial groups, but no data are currently available in northern Han Chinese. The aim of our study is to investigate the association between 3 GJA4 gene polymorphisms (-1930C/T, C1019T and I1297D) and the susceptibility to CAD in northern Han Chinese.
Methods: 502 CAD patients and 410 controls confirmed by coronary angiography were genotyped by polymerase chain reaction restriction fragment length polymorphism analysis in an independent case-control study.
Results: The overall distribution of GJA4 C1019T genotypes among CAD patients and healthy controls was significantly different (p < 0.01). Frequencies of C1019T CC homozygote and C allele were significantly higher in the patient group than those in the control group. Stratification analysis showed that the C1019T C allele significantly increased the risk of CAD only among male subjects (p = 0.006; OR 1.38; 95% CI 1.09-1.74). After adjustment for conventional risk factors, binary logistic regression analysis showed that the C allele carrier (CC + CT) of C1019T was an independent risk factor for CAD (p < 0.05). Further linkage disequilibrium tests and haplotype analysis revealed that the C-C-D haplotype conferred an increased risk of CAD.
Conclusions: Our study suggests that GJA4 gene C1019T polymorphism and/or its related C-C-D haplotype might contribute to an increased risk of CAD and potentially play an important role in the development of coronary atherosclerosis in northern Han Chinese.
(c) 2007 S. Karger AG, Basel