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Updated: Apr 18, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association of rs2075876 polymorphism of AIRE gene with rheumatoid arthritis risk
Zhong-Jun Feng1, Shu-Lan Zhang2, Hai-Feng Wen1
1Department of Laboratory Medcine, The Third Hospital of Hebei Medical University, Shijiazhuang 050051, China.
Background:
Autoimmune regulator (AIRE), a protein encoded by AIRE gene, is a transcriptional factor primarily expressed in medullary thymic epithelial cells (mTECs). It has pivotal role in regulation of human immunology. The mutations of AIRE gene or protein level changes would alter the status of body immunity and therefore onset of diseases. Therefore we aimed at investigating the association of AIRE gene with the risk of rheumatoid arthritis (RA).
Methods:
We genotyped 9 SNPs of AIRE gene of recruited 691 patients of rheumatoid arthritis and 800 healthy people in Chinese Han population.
Results:
Our results indicated that a variant rs2075876 with minor allele A increased the risk of rheumatoid arthritis (pa=0.008, OR=1.991, 95%CI 1.214-2.919). Other two SNPs rs933150 and rs760426 were borderline-associated with rheumatoid arthritis risk (pa=0.055; pa=0.074, respectively). Furthermore, in correlation analysis of SNPs in AIRE gene with clinical characteristics of rheumatoid arthritis, we found the SNP rs2075876 had significant correlation with CRP concentration (pa=0.020).
Conclusion:
We might provide a new inside look into the AIRE gene variants in development and progression of rheumatoid arthritis.
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