We investigated the T280M and V249I mutations in the CX3CR1 gene in 235 Japanese patients with ischemic cerebrovascular disease (CVD) and 306 age- and sex-matched healthy controls. Polymerase chain reaction and restriction fragment length polymorphism were used for genotyping.
There was no significant difference in both polymorphisms between patients with ischemic CVD and controls (VV versus II + VI, p = 0.83; TT versus MM + TM, p = 0.66). The I and M allele frequencies were not significantly different between CVD patients and controls: odds ratio (OR) = 0.89 (95%confidence interval (CI) = 0.50–1.60, p = 0.70) and OR = 1.19 (95%CI = 0.71–2.00, p = 0.51), respectively. We found eight of nine possible combined genotypes, including a new haplotype V249-M280, in Japanese.
Our results show that these CX3CR1 gene polymorphisms are not associated with an increased risk for ischemic CVD in the Japanese population.
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