title: T280M and V249I polymorphisms of fractalkine receptor CX3CR1 and ischemic cerebrovascular disease.
abstract: The contribution to atherosclerosis of two CX3CR1 single nucleotide polymorphisms, V249I and T280M has been recently reported. The atherosclerosis of intracranial vessels is thought to be the major pathological mechanism of ischemic stroke. In this study, we investigated the risk of ischemic stroke associated with fractalkine receptor CX3CR1 polymorphisms. 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.
authors.affiliation: Departments of Neurology, School of Medicine, Keio University, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan. hhattori@sc.itc.keio.ac.jp
authors.forename: Hidenori
authors.initials: H
authors.lastname: Hattori
authors.forename: Daisuke
authors.initials: D
authors.lastname: Ito
authors.forename: Norio
authors.initials: N
authors.lastname: Tanahashi
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Murata
authors.forename: Ikuo
authors.initials: I
authors.lastname: Saito
authors.forename: Kiyoaki
authors.initials: K
authors.lastname: Watanabe
authors.forename: Norihiro
authors.initials: N
authors.lastname: Suzuki
mesh_terms: D000073883:CX3C Chemokine Receptor 1; D016022:Case-Control Studies; D002561:Cerebrovascular Disorders / Q000235:genetics*; D016001:Confidence Intervals; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D019707:Receptors, Chemokine / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D012307:Risk Factors; D013912:Threonine / Q000235:genetics*; D014633:Valine / Q000235:genetics*
chemical_list: D000073883:CX3C Chemokine Receptor 1; C095235:CX3CR1 protein, human; D008565:Membrane Proteins; D019707:Receptors, Chemokine; D007532:Isoleucine; D013912:Threonine; D008715:Methionine; D014633:Valine