, Volume 37, Issue 2, pp 495–499 | Cite as

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

  • Song Shao
  • Xing-Rui Li
  • Han Cen
  • Zong-Sheng Yin


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) Pc = 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, Pc = 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, Pc = 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, Pc = 0.04). Our results indicated that AIRE rs2075876 and rs760426 polymorphisms were involved in the genetic background of RA in the Chinese population.


AIRE gene polymorphism rheumatoid arthritis Chinese population 



We wish to thank the patients and control subjects for their cooperation.


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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Song Shao
    • 1
    • 2
  • Xing-Rui Li
    • 3
  • Han Cen
    • 4
  • Zong-Sheng Yin
    • 1
  1. 1.Department of Orthopaedicsthe First Affiliated Hospital of Anhui Medical UniversityHefeiPeople’s Republic of China
  2. 2.Department of OrthopaedicsLiu’an People’s HospitalLiu’anPeople’s Republic of China
  3. 3.Department of Rheumatology and ImmunologyLiu’an People’s HospitalLiu’anPeople’s Republic of China
  4. 4.Department of Epidemiology and Biostatistics, School of Public HealthAnhui Medical UniversityHefeiPeople’s Republic of China

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