title: Platelet-activating factor receptor gene polymorphism in Japanese patients with multiple sclerosis.
abstract: We evaluated the association of the platelet-activating factor receptor (PAFR) gene polymorphism (A224D) with the susceptibility and severity of multiple sclerosis (MS) in a Japanese population. DNA was collected from 162 Japanese patients with clinically definite 'conventional' MS (MS) and 245 healthy controls. The missense mutation A224D that impairs PAF-PAFR signaling was determined by polymerase chain reaction restriction fragment length polymorphism. The frequency of the AD/DD genotypes was significantly higher in MS patients (21.0%) than in healthy controls (13.5%) (p=0.045; odds ratio (OR), 1.71; 95% confidence interval (CI), 1.01-2.89). Moreover, the frequency of D allele in MS patients (11.7%) was also significantly higher than those in healthy controls (6.9%) (p=0.019; OR, 1.78; 95% CI, 1.10-2.89). These findings suggest that the PAFR gene missense mutation has a relation to the susceptibility for MS.
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan.
authors.forename: Manabu
authors.initials: M
authors.lastname: Osoegawa
authors.forename: Ryuji
authors.initials: R
authors.lastname: Miyagishi
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ochi
authors.forename: Itta
authors.initials: I
authors.lastname: Nakamura
authors.forename: Masaaki
authors.initials: M
authors.lastname: Niino
authors.forename: Seiji
authors.initials: S
authors.lastname: Kikuchi
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Murai
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Fukazawa
authors.forename: Motozumi
authors.initials: M
authors.lastname: Minohara
authors.forename: Kunio
authors.initials: K
authors.lastname: Tashiro
authors.forename: Jun-Ichi
authors.initials: J
authors.lastname: Kira
mesh_terms: D000328:Adult; D016009:Chi-Square Distribution; D016001:Confidence Intervals; D004198:Disease Susceptibility; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D020125:Mutation, Missense; D016017:Odds Ratio; D010980:Platelet Membrane Glycoproteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000096:biosynthesis; D043562:Receptors, G-Protein-Coupled / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D018709:Statistics, Nonparametric
chemical_list: D010980:Platelet Membrane Glycoproteins; D012333:RNA, Messenger; D043562:Receptors, G-Protein-Coupled; C039351:platelet activating factor receptor