title: Estrogen receptor gene polymorphism and multiple sclerosis in Japanese patients: interaction with HLA-DRB1*1501 and disease modulation.
abstract: We investigated PvuII and XbaI polymorphism in the estrogen receptor gene (ERG) and HLA-DRB1*1501 positivity in 116 conventional multiple sclerosis (MS) patients and 101 healthy controls in a Japanese population. Logistic analysis revealed independent associations of [P] allele in the profiles for PvuII (p=0.0005, adjusted odds ratio (aOR)=3.17) and DRB1*1501 (p=0.0089, aOR=2.61) with conventional MS. Synergistic elevated risk of MS due to interaction between the [P] allele and HLA-DRB1*1501 allele was found among female patients (odds ratio=16.0; 95% CI=3.99-63.8, p<0.0001). The [P] allele-positive patients with disease duration of more than 5 years had a significantly higher progression index (PI) of disability (p=0.0230) and a worse ranked MS severity score (p=0.0152) than their non-[P] counterparts.
authors.affiliation: Department of Neurology, Hokkaido University Graduate School of Medicine, Kita-15 Nshi-7, Kita-ku, Sapporo 060-8638, Japan. skikuti@med.hokudai.ac.jp
authors.forename: Seiji
authors.initials: S
authors.lastname: Kikuchi
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Fukazawa
authors.forename: Masaaki
authors.initials: M
authors.lastname: Niino
authors.forename: Ichiro
authors.initials: I
authors.lastname: Yabe
authors.forename: Ryuji
authors.initials: R
authors.lastname: Miyagishi
authors.forename: Takeshi
authors.initials: T
authors.lastname: Hamada
authors.forename: Kunio
authors.initials: K
authors.lastname: Tashiro
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006684:HLA-DR Antigens / Q000235:genetics* / Q000276:immunology; D059811:HLA-DRB1 Chains; D006801:Humans; D007564:Japan; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D011110:Polymorphism, Genetic / Q000235:genetics* / Q000276:immunology; D011379:Prognosis; D011960:Receptors, Estrogen / Q000235:genetics* / Q000276:immunology; D012737:Sex Factors
chemical_list: D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; D011960:Receptors, Estrogen; C025580:endodeoxyribonuclease XBAI; C025630:CAGCTG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific