title: Interferon regulatory factor 5 polymorphisms in sarcoidosis.
abstract: OBJECTIVE
  Interferon regulatory factor 5 (IRF5) gene polymorphisms are associated with susceptibility to autoimmune diseases. The aim of this study is to determine the roles of IRF5 single-nucleotide polymorphisms (SNPs) in sarcoidosis.
  
  
  METHODS
  A total of 175 Japanese patients with biopsy-proven sarcoidosis and 150 sex-matched controls were genotyped for four IRF5 SNPs: rs729302A/C, rs2004640G/T, rs10954213A/G, and rs2280714G/A. The associations of these SNPs with susceptibility to sarcoidosis were examined.
  
  
  RESULTS
  Carriage of rs10954213A and rs2280714A conferred significant risks for sarcoidosis [carriage of rs10954213A: odds ratio (OR) = 1.96, 95% confidence interval (CI) = 1.15-3.33, P = 0.01, corrected P = 0.04; carriage of rs2280714A: OR = 1.97, 95% CI = 1.22-3.16, P = 0.005, corrected P = 0.02]. The haplotype carrying rs10954213A and rs2280714A (haplotype 2) was significantly associated with susceptibility to sarcoidosis (OR = 2.00, 95% CI = 1.24-3.24, P = 0.004, corrected P = 0.01). rs729302 and rs2004640 were not associated with susceptibility to sarcoidosis, whereas carriage of rs2004640G was protective against pulmonary hypertension (OR = 0.017, 95% CI = 0.002-0.15, P < 0.001, corrected P < 0.001).
  
  
  CONCLUSIONS
  A haplotype carrying two functional SNPs of IRF5, rs10954213A and rs2280714A, was associated with the risk of sarcoidosis in the Japanese population.
authors.affiliation: Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, 54 Shogoin Kawaharacho, Sakyo-ku, Kyoto, 606-8507, Japan, tanizawa@kuhp.kyoto-u.ac.jp.
authors.forename: Kiminobu
authors.initials: K
authors.lastname: Tanizawa
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Handa
authors.forename: Sonoko
authors.initials: S
authors.lastname: Nagai
authors.forename: Hiroe
authors.initials: H
authors.lastname: Sato
authors.forename: Ryo
authors.initials: R
authors.lastname: Yamada
authors.forename: Isao
authors.initials: I
authors.lastname: Ito
authors.forename: Takeshi
authors.initials: T
authors.lastname: Kubo
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Ito
authors.forename: Kizuku
authors.initials: K
authors.lastname: Watanabe
authors.forename: Kensaku
authors.initials: K
authors.lastname: Aihara
authors.forename: Kohei
authors.initials: K
authors.lastname: Ikezoe
authors.forename: Michiaki
authors.initials: M
authors.lastname: Mishima
authors.forename: Takateru
authors.initials: T
authors.lastname: Izumi
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D007564:Japan; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012507:Sarcoidosis / Q000235:genetics*
chemical_list: C431713:IRF5 protein, human; D050835:Interferon Regulatory Factors