rs1244181 - GATA3-AS1, GATA3
Magnitude 2.8 · 1 study on file
Reported associations
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Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency - Unknown journal (n.d.) · Unknown authors · PubMed 27723758
ABSTRACT: Selective immunoglobulin A deficiency (IgAD) is the most common primary immunodeficiency in Europeans. Our GWAS meta-analysis of 1,635 IgAD patients and 4,852 controls identified four new significant (P < 5x10−8) loci and association with a rare IFIH1 variant (Ile923Val). Peak novel variants (PVT1 P = 4.3x10−11, ATG13-AMBRA1 P = 6.7x10−10, AHI1 P = 8.4x10−10 and CLEC16A P = 1.4x10−9) overlapped with autoimmune markers (3/4) and correlated with 21 putative regulatory variants, including eQTLs for AHI1 and DEXI and DNase hypersensitivity in FOXP3+ T regulatory cells. A pathway analysis of the meta-analysis results showed a striking association with the KEGG pathway for IgA production (pathway P < 0.0001): where 22 of 30 annotated pathway genes contained at least one var
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Screening
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serum IgA level screening Moderate
Variant increases risk of selective IgA deficiency, characterized by absent or very low serum IgA despite normal IgG and IgM.
Discuss with physician about IgA testing; consider serum immunoglobulin panel if not recently done.