Association of rs2075876 polymorphism of AIRE gene with rheumatoid arthritis risk

Zhou, Feng; Zhang, Shulan; Haifeng, Wen; Liang, Yun

doi:10.1016/j.humimm.2015.01.026

Cited by 28 publications

(20 citation statements)

References 25 publications

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“…A GWAS study conducted by Terao et al found that AIRE gene rs2075786 polymorphism increased the risk of RA among the Japanese population [ 13 ]. The significant association was also observed in the subsequent studies among Chinese Han populations [ 18 , 19 ]. However, Garcia-Lozano et al failed to replicate this association in a Caucasian population [ 20 ].…”

Section: Discussionsupporting

confidence: 76%

A single nucleotide polymorphism of AIRE gene located in the 21q22.3 increases the risk of rheumatoid arthritis

Jiang

Chen

2017

Oncotarget

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Several studies addressed the association of autoimmune regulator (AIRE) gene polymorphism with the risk of rheumatoid arthritis (RA); however, their conclusions were inconsistent. For better investigating the effects of this polymorphism on the risk of RA, we conducted this study to evaluate the role of AIRE rs2075786 polymorphism in the risk of RA. Four eligible studies involving 6,755 cases and 7,970 controls were identified by searching the databases of PubMed, CNKI and EMBASE up to February 2017. Our study revealed that AIRE rs2075786 polymorphism was associated with an increased risk of RA under all genetic models. In the subgroup analysis, AIRE rs2075786 polymorphism contributed to RA susceptibility among Asians, but not among Caucasians. To summarize,, this meta-analysis confirms that AIRE rs2075786 polymorphism may play a significant role in increasing the risk of RA. Stratification analysis by ethnicity reveals that AIRE rs2075786 polymorphism is associated with an increased risk of RA among Asians, but not among Caucasians. These findings need further validation in the large multicenter case-control studies.

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Section: Discussionsupporting

confidence: 76%

A single nucleotide polymorphism of AIRE gene located in the 21q22.3 increases the risk of rheumatoid arthritis

Jiang

Chen

2017

Oncotarget

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“…The AIRE gene, mutated in APS1, appears to harbor common variants associated to the risk of AAD in our Swedish case group. Common genetic variation in AIRE has previously been linked to rheumatoid arthritis in GWA studies in Japanese and Chinese Han populations 62 , 63 . However, it is worth noting that the risk of rheumatoid arthritis is linked to the allele rs2075876-A, whereas we associate AAD to the other allele, rs2075876-G.…”

Section: Discussionmentioning

confidence: 99%

Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison’s disease in Sweden

Eriksson

Bianchi

Landegren

et al. 2018

Sci Rep

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Autoimmune Addison’s disease (AAD) is the predominating cause of primary adrenal failure. Despite its high heritability, the rarity of disease has long made candidate-gene studies the only feasible methodology for genetic studies. Here we conducted a comprehensive reinvestigation of suggested AAD risk loci and more than 1800 candidate genes with associated regulatory elements in 479 patients with AAD and 2394 controls. Our analysis enabled us to replicate many risk variants, but several other previously suggested risk variants failed confirmation. By exploring the full set of 1800 candidate genes, we further identified common variation in the autoimmune regulator (AIRE) as a novel risk locus associated to sporadic AAD in our study. Our findings not only confirm that multiple loci are associated with disease risk, but also show to what extent the multiple risk loci jointly associate to AAD. In total, risk loci discovered to date only explain about 7% of variance in liability to AAD in our study population.

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“…With the exception of Feng et al . 21 , all studies described the genotype distribution for AA, GA, GG. We therefore calculated ORs for all the genetic models that were not published in the original articles (Table 2 ).…”

Section: Resultsmentioning

confidence: 99%

“…Furthermore, we excluded the OR, 95% CI and p-value of Feng et al . 21 from the statistical analysis due to the asymmetry of the OR. Results for each genetic model are shown in Fig.…”

Section: Resultsmentioning

confidence: 99%

Association between AIRE gene polymorphism and rheumatoid arthritis: a systematic review and meta-analysis of case-control studies

Bérczi

Gerencsér

Farkas

et al. 2017

Sci Rep

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Autoimmune regulator (AIRE) is a transcription factor that functions as a novel player in immunological investigations. In the thymus, it has a pivotal role in the negative selection of naive T-cells during central tolerance. Experimental studies have shown that single nucleotide polymorphism (SNP) alters transcription of the AIRE gene. SNPs thereby provide a less efficient negative selection, propagate higher survival of autoimmune T-cells, and elevate susceptibility to autoimmune diseases. To date, only rheumatoid arthritis (RA) has been analysed by epidemiological investigations in relation to SNPs in AIRE. In our meta-analysis, we sought to encompass case-control studies and confirm that the association between SNP occurrence and RA. After robust searches of Embase, PubMed, Cochrane Library, and Web of Science databases, we found 19 articles that included five independent studies. Out of 11 polymorphisms, two (rs2075876, rs760426) were common in the five case-control studies. Thus, we performed a meta-analysis for rs2075876 (7145 cases and 8579 controls) and rs760426 (6696 cases and 8164 controls). Our results prove that rs2075876 and rs760426 are significantly associated with an increased risk of RA in allelic, dominant, recessive, codominant heterozygous, and codominant homozygous genetic models. These findings are primarily based on data from Asian populations.

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Association of rs2075876 polymorphism of AIRE gene with rheumatoid arthritis risk

Cited by 28 publications

References 25 publications

A single nucleotide polymorphism of AIRE gene located in the 21q22.3 increases the risk of rheumatoid arthritis

A single nucleotide polymorphism of AIRE gene located in the 21q22.3 increases the risk of rheumatoid arthritis

Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison’s disease in Sweden

Association between AIRE gene polymorphism and rheumatoid arthritis: a systematic review and meta-analysis of case-control studies

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