title: Genetic polymorphisms of osteopontin in association with multiple sclerosis in Japanese patients.
abstract: Osteopontin (OPN) exhibits pleiotropic functions and abundant transcripts for OPN are present in brains of patients with multiple sclerosis (MS). The aim of this study was to investigate the role of OPN genes in the pathogenesis of MS. Polymorphisms at the 8090th, 9250th and 9583rd positions in OPN were detected by PCR-RFLP from DNAs of 116 MS Japanese patients and 124 healthy controls. The C/C genotype at the 8090th position in exon 6 was more prevalent in MS than in control (p<0.0001), and C allele was more prevalent in MS than in control (p<0.0001, OR=2.57, 95% CI=1.65-4.00). For the 9583rd position polymorphism in exon 7, patients with G/G genotype (age; 32.1+/-12.5 years, mean+/-S.D.) showed a later disease onset than G/A (age; 25.9+/-7.8 years, p=0.01) and A/A (age; 25.2+/-8.9 years, p=0.01) genotypes. There were no significant correlations between OPN gene polymorphisms and disease progression. Our results suggest that the 8090th polymorphism might be associated with susceptibility to MS, while the 9583rd polymorphism might be associated with age of onset of MS.
authors.affiliation: Department of Neurology, Hokkaido University Graduate School of Medicine, Kita-15 Nishi-7, Kita-ku, Sapporo, 060-8638, Japan. niino@med.hokudai.ac.jp
authors.forename: Masaaki
authors.initials: M
authors.lastname: Niino
authors.forename: Seiji
authors.initials: S
authors.lastname: Kikuchi
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Fukazawa
authors.forename: Ichiro
authors.initials: I
authors.lastname: Yabe
authors.forename: Kunio
authors.initials: K
authors.lastname: Tashiro
mesh_terms: D000328:Adult; D001483:Base Sequence / Q000235:genetics; D001921:Brain / Q000276:immunology / Q000378:metabolism / Q000503:physiopathology; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004247:DNA / Q000097:blood / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D009103:Multiple Sclerosis / Q000097:blood / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D053495:Osteopontin; D011110:Polymorphism, Genetic / Q000235:genetics*; D012795:Sialoglycoproteins / Q000235:genetics*
chemical_list: C506895:SPP1 protein, human; D012795:Sialoglycoproteins; D053495:Osteopontin; D004247:DNA