rs4248166

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

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GWAS Catalog Trait Associations (1)

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

Epstein Barr virus nuclear antigen 1 IgG measurement

Zhou Y et al. “Genetic loci for Epstein-Barr virus nuclear antigen-1 are associated with risk of multiple sclerosis.” Multiple Sclerosis (houndmills, Basingstoke, England) 22(13):1655-1664 (2016)
Allele T
OR 0.16
p 1.0e-9
N 6,547
Large GWAS
Hispanic or Latin American
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Research that mentions this SNP (1)

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Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non‐DRB1 loci
AssociationN=1,832Charlotte Vignal et al.(2009)· Arthritis &amp; Rheumatism

This case-control study of 855 rheumatoid arthritis patients and 977 controls identified SNP associations in the MHC region using logistic regression across 2,360 markers. After adjusting for HLA-DRB1, 18 markers in 14 genes showed strong associations (P < 10^-4). The final model retained three independent markers: rs4678 in VARS2L (nonsynonymous R/Q at position 1049), rs2442728 upstream of HLA-B, and rs17499655 in HLA-DQA2 5'-UTR, confirming polygenic MHC contribution to RA beyond the shared epitope.

Traits studied:Anti-cyclic citrullinated peptide (anti-CCP) antibodiesRheumatoid ArthritisRheumatoid Factor (RF) seropositivity
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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