Association of AIRE Polymorphisms with Genetic Susceptibility to Rheumatoid Arthritis in a Chinese Population

• Published in: Inflammation 2014-04, Vol.37 (2), p.495-499
• Main Authors: Shao, Song, Li, Xing-Rui, Cen, Han, Yin, Zong-Sheng
• Format: Article
• Language: English
• Subjects: Adult; AIRE Protein; Arthritis, Rheumatoid - ethnology; Arthritis, Rheumatoid - genetics; Arthritis, Rheumatoid - immunology; Asian People - genetics; Biomedical and Life Sciences; Biomedicine; Case-Control Studies; China - epidemiology; Female; Gene Frequency; Genetic Predisposition to Disease; Humans; Immunology; Internal Medicine; Logistic Models; Male; Middle Aged; Odds Ratio; Pathology; Pharmacology/Toxicology; Polymorphism, Genetic; Rheumatology; Risk Assessment; Risk Factors; Transcription Factors - genetics
• ISSN: 0360-3997; 1573-2576
• DOI: 10.1007/s10753-013-9763-3

Recently, genetic polymorphisms within the autoimmune regulator ( AIRE ) have been implicated in the genetic susceptibility to rheumatoid arthritis (RA) in Japanese and Spanish. The aim of this case–control study involving 232 patients with RA and 313 ethnically matched control subjects was to investigate the association of AIRE rs2075876 and rs760426 polymorphisms with genetic predisposition to RA in a Chinese population. The genotypes of AIRE rs2075876 and rs760426 polymorphisms were determined by SNaPshot assay. A significant difference in the allele frequency of AIRE rs2075876 polymorphism between cases and controls was detected (A versus G, OR 1.33, 95 %CI 1.04–1.69, P  = 0.02, P corrected (Bonferroni correction) P c = 0.04). Significant evidence was found for the association between the minor allele A of AIRE rs2075876 polymorphism and the risk of RA under the recessive model (AA versus AG + GG, P  = 7.15 × 10 −3 , P c = 1.43 × 10 −2 ). The frequency of the minor allele G of AIRE rs760426 polymorphism was higher in patients compared with controls (47.8 % versus 42.1 %), and this deviation showed a trend towards significant level ( P  = 0.06, P c = 0.12). The association between the minor allele G of AIRE rs760426 polymorphism with RA risk under the dominant model and the recessive model revealed that significant evidence was detected under the recessive model (GG versus GA + AA, P  = 0.02, P c = 0.04). Our results indicated that AIRE rs2075876 and rs760426 polymorphisms were involved in the genetic background of RA in the Chinese population.