Natural resistance-associated macrophage protein 1 gene polymorphisms in rheumatoid arthritis

• Published in: Immunology Letters Vol. 102; no. 1; pp. 91 - 97
• Main Authors: Yen, Jeng-Hsien, Lin, Chia-Hui, Tsai, Wen-Chun, Ou, Tsan-Teng, Wu, Cheng-Chin, Hu, Chaur-Jong, Liu, Hong-Wen
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 15.01.2006
• Subjects: Alleles; Arthritis, Rheumatoid - genetics; Cation Transport Proteins - genetics; Female; Genotype; Humans; Male; NRAMP1; Polymorphism; Polymorphism, Genetic - genetics; Rheumatoid arthritis; SLC11A1; Taiwan; Taiwan; NRAMP1; Rheumatoid arthritis; SLC11A1; Polymorphism
• ISSN: 0165-2478; 1879-0542; 1365-2567
• DOI: 10.1016/j.imlet.2005.07.008

To investigate the association of natural resistance-associated macrophage protein 1 gene ( NRAMP1) polymorphisms with rheumatoid arthritis (RA) in Taiwan. NRAMP1 polymorphisms were determined from 113 RA patients and 74 healthy controls using the polymerase chain reaction/restriction fragment length polymorphism method. 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. 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.