title: Natural resistance-associated macrophage protein 1 gene polymorphisms in rheumatoid arthritis.
abstract: OBJECTIVE
  To investigate the association of natural resistance-associated macrophage protein 1 gene (NRAMP1) polymorphisms with rheumatoid arthritis (RA) in Taiwan.
  
  
  METHODS
  NRAMP1 polymorphisms were determined from 113 RA patients and 74 healthy controls using the polymerase chain reaction/restriction fragment length polymorphism method.
  
  
  RESULTS
  The genotype frequencies of NRAMP1 823 C/C, 1703G/G (543D/D), and 1729+55 del 4 TGTG+/+ (244/244) were significantly higher in patients with RA than in controls. Similar findings were also evident in allele frequencies and allele carriage frequencies of 823C, 1703G (543D), and 1729+55 del 4 TGTG+ (244). The associations of these polymorphisms with RA were independent of HLA-DR4. Linkage disequilibria could be found between 823C and 1703G, and between 1703G and 1729+55 del 4 TGTG+. The estimated haplotype frequency of NRAMP1 823C/1703G/1729+55 del 4 TGTG+ was significantly increased in RA patients compared with controls. We also found that patients with 823 C/C had a significantly lower prevalence of rheumatoid nodule than those without 823 C/C.
  
  
  CONCLUSIONS
  NRAMP1 823C, 1703G (543D), and 1729+55 del 4 TGTG+ (244) are precipitating factors for the development of RA in Taiwan. The estimated NRAMP1 823C/1703G/1729+del 4 TGTG+ haplotype is associated with susceptibility to RA. NRAMP1 823 C/C prevents the development of rheumatoid nodule in RA patients.
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Kaohsiung Medical University Hospital and College of Medicine, Kaohsiung Medical University, No. 100 Zihyou First Road, Kaohsiung 807, Taiwan. jehsye@cc.kmu.edu.tw
authors.forename: Jeng-Hsien
authors.initials: JH
authors.lastname: Yen
authors.forename: Chia-Hui
authors.initials: CH
authors.lastname: Lin
authors.forename: Wen-Chun
authors.initials: WC
authors.lastname: Tsai
authors.forename: Tsan-Teng
authors.initials: TT
authors.lastname: Ou
authors.forename: Cheng-Chin
authors.initials: CC
authors.lastname: Wu
authors.forename: Chaur-Jong
authors.initials: CJ
authors.lastname: Hu
authors.forename: Hong-Wen
authors.initials: HW
authors.lastname: Liu
mesh_terms: D000483:Alleles; D001172:Arthritis, Rheumatoid / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D013624:Taiwan; D000099173:Natural Resistance-associated Macrophage Protein 1
chemical_list: D027682:Cation Transport Proteins; D000099173:Natural Resistance-associated Macrophage Protein 1