rs3817963

This is a intron 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.

lung adenocarcinoma

Shiraishi K et al. “Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma.” Nature Communications 7:12451 (2016)
Allele G
OR 1.29
p 1.0e-16
N 5,030
Large GWAS
East Asian
Shiraishi K et al. “A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.” Nature Genetics 44(8):900-3 (2012)
Allele G
OR 1.18
p 3.0e-10
N 7,028
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Replication of genetic loci for sarcoidosis in US black women: data from the Black Women’s Health Study
AssociationN=1,429Yvette Cozier et al.(2013)· Human Genetics

Nested case-control study (486 cases, 943 controls) of African-American women from the Black Women's Health Study examining SNPs in the BTNL2 gene and ancestry informative markers for sarcoidosis susceptibility. The rs3817963 A-allele was associated with 40% increased sarcoidosis risk (p=0.02, OR=1.40), and rs30533 African ancestry was associated with 39-43% decreased risk (p=0.01). Higher global African ancestry was associated with 54% increased sarcoidosis risk in the highest quintile (p=0.03).

Traits studied:SarcoidosisSarcoidosis severity
PubMedDOIMetascience 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]

View all BTNL2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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