title: Interferon-induced helicase (IFIH1) polymorphism with systemic lupus erythematosus and dermatomyositis/polymyositis.
abstract: The aim of the present study was to evaluate whether the interferon-induced helicase (IFIH1) Ala946Thr (rs1990760 A>G) polymorphism is associated with susceptibility to systemic lupus erythematosus (SLE) and dermatomyositis (DM) or polymyositis (PM) in the Japanese population. The study population consisted of 243 SLE patients, 125 DM/PM patients, and 268 healthy controls from Japan. A Taqman single nucleotide polymorphism genotyping assay was designed for rs1990760 by Applied Biosystems. There were no significant differences between SLE and DM/PM patients and healthy controls regarding the frequency of each genotype and allele. However, the frequency of the AA genotype and the A allele tended to be higher in PM patients with interstitial lung disease (ILD). Additionally, when comparing the AA and AG + GG genotypes at rs1990760, the AA genotype was significantly more frequent in PM patients with ILD than in healthy controls [odds ratio, 3.23 (95% confidence interval, 1.06-9.81); P = 0.04] or in PM patients without ILD [odds ratio, 5.40 (95% confidence interval, 1.37-21.26); P = 0.027]. Our observations suggest that the G allele protects against the onset of ILD and that the AA genotype is a risk factor for lung injury in PM patients.
authors.affiliation: Institute of Rheumatology, Tokyo Women's Medical University, 10-22 Kawada-cho, Shinjuku-Ku, Tokyo 162-0054, Japan.
authors.forename: Takahisa
authors.initials: T
authors.lastname: Gono
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Kawaguchi
authors.forename: Tomoko
authors.initials: T
authors.lastname: Sugiura
authors.forename: Takefumi
authors.initials: T
authors.lastname: Furuya
authors.forename: Manabu
authors.initials: M
authors.lastname: Kawamoto
authors.forename: Masanori
authors.initials: M
authors.lastname: Hanaoka
authors.forename: Hisashi
authors.initials: H
authors.lastname: Yamanaka
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D003882:Dermatomyositis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D000072640:Interferon-Induced Helicase, IFIH1; D017563:Lung Diseases, Interstitial / Q000150:complications / Q000235:genetics / Q000473:pathology; D008180:Lupus Erythematosus, Systemic / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide
chemical_list: C452815:IFIH1 protein, human; D053487:DEAD-box RNA Helicases; D000072640:Interferon-Induced Helicase, IFIH1