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rs2076530

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2x risk for sarcoidosis
(A;G) increased risk for sarcoidosis
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome6
Position32396039
GeneBTNL2
is asnp
is mentioned by
dbSNPrs2076530
ebirs2076530
HLIrs2076530
Exacrs2076530
Varsomers2076530
Maprs2076530
PheGenIrs2076530
hapmaprs2076530
1000 genomesrs2076530
hgdprs2076530
ensemblrs2076530
gopubmedrs2076530
geneviewrs2076530
scholarrs2076530
googlers2076530
pharmgkbrs2076530
gwascentralrs2076530
openSNPrs2076530
23andMers2076530
23andMe allrs2076530
SNP Nexus

SNPshotrs2076530
SNPdbers2076530
MSV3drs2076530
GWAS Ctlgrs2076530
GMAF0.3779
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs2076530(A) was estimated to double the risk of developing sarcoidosis, at least as based on a study of Caucasians. [PMID 15735647]

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 16080124OA-icon.png]

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 19050377] rs2076530(A;A) associated with a risk of sensitization towards Der f allergies (Odds ratio; 1.55, p = 0.0060)

OMIM612387
DescSARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2
Variant
Relatedalso
OMIM606000
DescBUTYROPHILIN-LIKE PROTEIN 2; BTNL2
Variant
Relatedalso


[PMID 20176143] Analysis of the Association between BTNL2 Polymorphism and Tuberculosis in Chinese Han population

OMIM606000
Desc
Variant0001
Relatedalso


[PMID 21410903] The BTNL2 A allele variant is frequent in Danish patients with sarcoidosis


[PMID 16400609OA-icon.png] Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing.


[PMID 16526951OA-icon.png] 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 19161620OA-icon.png] An open access database of genome-wide association results.


[PMID 19936222OA-icon.png] Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.


[PMID 20018063OA-icon.png] Detecting significant single-nucleotide polymorphisms in a rheumatoid arthritis study using random forests.


[PMID 20018075OA-icon.png] Genome-wide association study of rheumatoid arthritis by a score test based on wavelet transformation.


[PMID 20018081OA-icon.png] Assessment of gene-covariate interactions by incorporating covariates into association mapping.


[PMID 20041220OA-icon.png] Autoimmune disease classification by inverse association with SNP alleles.


[PMID 20305777OA-icon.png] 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


GET Evidence
BTNL2-S360G
aa_change Ser360Gly
aa_change_short S360G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.391727
summary



[PMID 22991420] Genetic characterization and susceptibility for sarcoidosis in Japanese patients: risk factors of BTNL2 gene polymorphisms and HLA class II alleles

GWAS snp
PMID [PMID 22936702]
Trait Sarcoidosis
Title Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.
Risk Allele
P-val 3E-11
Odds Ratio NR NR


[PMID 23543185OA-icon.png] 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