rs2075876

This is a intron variant variant in the AIRE gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

Genetic chronic primary adrenal insufficiency

Eriksson D et al. “GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility.” Nature Communications 12(1):959 (2021)

Allele G

OR 2.17

p 8.0e-14

N 5,320

Large GWAS

European

rheumatoid arthritis

Terao C et al. “The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.” Human Molecular Genetics 20(13):2680-5 (2011)

Allele A

OR 1.18

p 4.0e-9

N 2,733

Large GWAS

East Asian

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Research that mentions this SNP (1)

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Evidence for gene–gene epistatic interactions among susceptibility loci for systemic lupus erythematosus

ReviewHughes T. et al.(2012)· Arthritis & Rheumatism

A comprehensive review of genetic variants contributing to systemic lupus erythematosus (SLE), covering both polygenic (>100 susceptibility loci) and monogenic (1-10% of cases) contributions identified through NGS techniques. Key susceptibility genes include STAT4, BANK1, TNFAIP3, BLK, IRF5, ETS1, and TNIP1, with early-onset SLE showing greater genetic burden particularly in Black, Asian, and Hispanic ancestries.

Traits studied:AutoimmunitySystemic lupus erythematosus

PubMed DOI Metascience Observatory

About AIRE

This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]