rs1980493

This is a downstream gene variant variant in the BTNL2 gene.

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GWAS Catalog Trait Associations (2)

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

membranous glomerulonephritis

Stanescu HC et al. “Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.” The New England Journal of Medicine 364(7):616-26 (2011)

Allele G

OR 2.87

p 1.0e-48

N 2,894

Large GWAS

European

autoimmune thyroid disease, type 1 diabetes mellitus

Tomer Y et al. “Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.” Journal of Autoimmunity 60:32-9 (2015)

Allele G

OR 2.50

p 2.0e-20

N 1,073

Large GWAS

European

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Research that mentions this SNP (1)

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MHC region and risk of systemic lupus erythematosus in African American women

AssociationN=1,145Ruiz-Narvaez EA et al.(2011)· Human Genetics

Case-control study in 380 African-American SLE cases and 765 controls identified four independent SNPs in the MHC region associated with systemic lupus erythematosus. The strongest signal was rs9271366 (OR=1.70, p=5.6×10⁻⁵) near HLA-DRB1, with conditional analysis revealing three additional independent variants: rs204890 (OR=1.86, p=1.2×10⁻⁴) in ATF6B, rs2071349 (OR=1.53, p=1.0×10⁻³) in HLA-DPB1, and rs2844580 (OR=1.43, p=1.3×10⁻³) near HLA-B/MICA. A combined genotype score showed additive risk with OR=1.67 per high-risk allele (p<0.0001).

Traits studied:SLE with abnormal antinuclear antibody titersSLE with arthritisSLE with hematologic disorderSLE with immunologic disorderSLE with renal disorderSLE with serositisSLE with skin manifestationsSystemic lupus erythematosus

PubMed DOI Metascience Observatory

About BTNL2

This gene encodes a major histocompatibility complex, class II associated, type I transmembrane protein which belongs to the butyrophilin-like B7 family of immunoregulators. It is thought to be involved in immune surveillance, serving as a negative T-cell regulator by decreasing T-cell proliferation and cytokine release. The encoded protein contains an N-terminal signal peptide, two pairs of immunoglobulin-like domains, separated by a heptad peptide sequence, and a C-terminal transmembrane domain. Naturally occurring mutations in this gene are associated with sarcoidosis, rheumatoid arthritis, ulcerative colitis, inflammatory bowel disease, myositis, type 1 diabetes, systemic lupus erythematosus, acute coronary syndrome, and prostate cancer. [provided by RefSeq, May 2017]