|(A;A)||2x risk for sarcoidosis|
|(A;G)||increased risk for sarcoidosis|
Although by itself it was not associated with increased risk for sarcoidosis in a population of African descent, this allele was part of a disease-associated haplotype. [PMID 16080124]
The rs2076530 SNP has also been investigated for associations with multiple sclerosis, Type-1 diabetes, SLE, and rheumatoid arthritis, but any association seen has apparently been due to carryover effects from nearby major histocompatibility haplotypes. [PMID 16690410, PMID 16321988]
[PMID 20176143] Analysis of the Association between BTNL2 Polymorphism and Tuberculosis in Chinese Han population
[PMID 21410903] The BTNL2 A allele variant is frequent in Danish patients with sarcoidosis
[PMID 16400609] Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing.
[PMID 16526951] On the Wegener granulomatosis associated region on chromosome 6p21.3.
[PMID 16937379] SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs.
[PMID 16984233] Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74.
[PMID 17347014] Allelic variation in BTNL2 and susceptibility to tuberculosis in a South African population.
[PMID 17660530] Risk alleles for multiple sclerosis identified by a genomewide study.
[PMID 17661910] Analysis of BTNL2 genetic polymorphisms in British and Dutch patients with sarcoidosis.
[PMID 19161620] An open access database of genome-wide association results.
[PMID 19936222] Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
[PMID 20018063] Detecting significant single-nucleotide polymorphisms in a rheumatoid arthritis study using random forests.
[PMID 20018075] Genome-wide association study of rheumatoid arthritis by a score test based on wavelet transformation.
[PMID 20018081] Assessment of gene-covariate interactions by incorporating covariates into association mapping.
[PMID 20041220] Autoimmune disease classification by inverse association with SNP alleles.
[PMID 20305777] New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study.
[PMID 23017494] BTNL2 gene polymorphism associations with susceptibility and phenotype expression in sarcoidosis
[PMID 22991420] Genetic characterization and susceptibility for sarcoidosis in Japanese patients: risk factors of BTNL2 gene polymorphisms and HLA class II alleles
|Title||Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.|
|Odds Ratio||NR NR|
[PMID 23543185] Replication of genetic loci for sarcoidosis in US black women: data from the Black Women's Health Study.
[PMID 25078641] Lack of correlation of BTNL2 polymorphism and cancer risk in sarcoidosis. BTNL2 and cancer risk in sarcoidosis
|CLNSRC||OMIM Allelic Variant|
[PMID 30872286] BTNL2 gene polymorphism and sarcoid uveitis.