rs2076530
This is a protein-altering variant in the BTNL2 gene.
▶ClinVar annotation
▶Research that mentions this SNP (3)
▶Genome‐Wide Association Study of Lean Nonalcoholic Fatty Liver Disease Suggests Human Leukocyte Antigen as a Novel Candidate LocusAssociationN=11,375Ken Yoshida et al.(2020)· Hepatology Communications
A two-stage genome-wide association study (GWAS) of lean nonalcoholic fatty liver disease (NAFLD) in Japanese patients identified HLA as a novel candidate locus, with rs2076529 (OR 1.19, P=2.10E-06) showing significant association with whole NAFLD. HLA-B*54:01 allele carriers demonstrated altered gut microbiota composition, with reduced Verrucomicrobia and Akkermansia, suggesting HLA may influence NAFLD susceptibility through microbiome regulation.
▶Replication of genetic loci for sarcoidosis in US black women: data from the Black Women’s Health StudyAssociationN=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).
▶SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAsMethodsAbdou ElSharawy et al.(2006)· Human Mutation
SNPSplicer is a software tool and methodology for systematic analysis of SNP-dependent splicing effects in genotyped cDNAs using RT-PCR. The approach detects splice variants by comparing cDNA sequences from individuals with known genotypes (rs540819:T→A, rs2076530:A→G, rs3816989:G→A, rs2274987:C/T), identifying effects ranging from exon skipping to cryptic splice site usage and ESE-mediated exon inclusion.
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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