polymorphism and its expression associated with ischemic stroke in Chinese population.

BACKGROUND

Excision repair cross-complementing group 1 () was considered a potential candidate gene for ischemic stroke, and its polymorphisms might be associated with the susceptibility to ischemic stroke.

METHODS

A total of 513 patients with ischemic stroke and 550 control subjects were recruited. The expression levels of messenger RNA (mRNA) in peripheral blood mononuclear cells and its protein in plasma were detected by quantitative real-time PCR () and enzyme-linked immunosorbent assay (), respectively. polymorphism of was detected by PCR-restriction fragment length polymorphism () and was confirmed by sequencing. The association between the polymorphism or its expression and ischemic stroke was further analyzed.

RESULTS

The mRNA level in patients with ischemic stroke was lower than that in the control group ( < 0.05). However, the protein level in patients with ischemic stroke was higher than that in the control group ( < 0.05). The A allele of was associated with increased ischemic stroke risk (OR = 1.287, 95% CI = 1.076-1.540, = 0.006). The association between polymorphism and ischemic stroke susceptibility was found in both recessive (OR = 2.638, 95% CI = 1.744-3.989, < 0.001) and additive models (OR = 1.309, 95% CI = 1.028-1.667, = 0.031), respectively. Similar results were obtained in the recessive model (OR = 2.015, 95% CI = 1.087-3.704, = 0.026) after adjusting for demographic information and other variables. Additionally, the level of mRNA in the CC/CA genotype was higher than that in the AA genotype ( < 0.05).

CONCLUSION

It was suggested that the polymorphism was associated with ischemic stroke susceptibility in a Chinese Han population and that an A allele of was related to increased ischemic stroke risk. The altered expression level caused by the polymorphism might participate in the pathophysiological process of ischemic stroke.