Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE As BTNL2 (butyrophilin-like 2) gene polymorphism was found linked with the susceptibility to sarcoidosis, we investigated whether a specific genotype of BTNL2 gene G16071A (or rs2076530) single-nucleotide polymorphism (SNP) would be associated with the risk of sarcoid uveitis in all patient subgroups. 30872286

2019

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE In the logistic regression models evaluating the association between HLA alleles and chronic sarcoidosis adjusted for rs1049550 and rs2076530, only DRB1*03 was significantly associated with disease resolution. 27662826

2018

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE Host-genotype analysis revealed an association of the rs2076530 (<i>BTNL2</i>) risk allele with a decrease in bacterial burden (p=0.002).Our results indicate Scadding type-dependent microbiota in sarcoidosis BAL samples.<i>Atopobium</i> spp. and <i>Fusobacterium</i> spp. were identified as sarcoidosis-associated bacteria, which may enable new insights into the pathogenesis and treatment of the disease. 29242257

2017

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE The sarcoidosis risk variant rs2076530 in BTNL2 was associated with all OFG (P = 0.013). 27306066

2016

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE This meta-analysis indicates that BTNL2 rs2076530 polymorphism contributes to the risk of sarcoidosis. 25849037

2015

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE We studied the polymorphism of the rs2076530 SNP of BTNL2 gene in 35 patients with sarcoidosis and cancer compared to 340 sarcoidosis without cancer, 271 controls and 32 cancer matched controls. 25078641

2014

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation GWASDB Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis. 22936702

2013

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation GWASCAT Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis. 22936702

2013

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE Our data confirms the association of BTNL2 rs2076530 A allele with sarcoidosis susceptibility in a Portuguese population. 23017494

2012

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE In our study, 11 single nucleotide polymorphisms (rs28362677, rs2076533, rs2076530, rs2076529, rs2294881, rs3763304, rs2076523, rs28362682, rs3806156, rs9268499, rs3763317), including the functional rs2076530 (G > A) of the BTNL2 gene, and HLA-DRB1 and -DQB1 alleles, were genotyped in 237 Japanese patients diagnosed with sarcoidosis and 287 healthy Japanese control subjects. 22991420

2012

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE An association has been reported between sarcoidosis and a single nucleotide polymorphism in BTNL2, rs2076530, also termed the A allele. 21410903

2011

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE But, no significant association was detected between any of the polymorphisms investigated and TB, including rs2076530 SNP that was previously found to be associated with sarcoidosis. 20176143

2010

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE In summary, HLA-DRB1*14, DRB1*12, and BTNL2 haplotype 4--but not rs2076530 A--are associated with non-Löfgren sarcoidosis. 17661910

2007

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE Significant differences were not demonstrable for the sarcoidosis associated splice-site variation (rs2076530 pallelic = 0.80) in our WG cohort. 16526951

2006

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE Recent studies in sarcoidosis have identified association of a single nucleotide polymorphism (SNP) rs2076530 within BTNL2, a potential T-cell inhibitor, independent of the known DRB1 association. 16984233

2006

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE Although rs2076530</span> was not associated with sarcoidosis in either African American sample, a three-locus haplotype that included rs2076530 was associated with sarcoidosis across all three study samples. 16080124

2005

dbSNP: rs479777
rs479777
0.810 GeneticVariation GWASDB A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1. 22837380

2012

dbSNP: rs479777
rs479777
0.810 GeneticVariation BEFREE We identified chromosome 11q13.1 (rs479777) as a novel locus influencing susceptibility to sarcoidosis with genome-wide significance. 22837380

2012

dbSNP: rs479777
rs479777
0.810 GeneticVariation GWASCAT A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1. 22837380

2012

dbSNP: rs1964995
rs1964995
A 0.800 GeneticVariation GWASCAT High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences. 26651848

2016

dbSNP: rs1953600
rs1953600
0.800 GeneticVariation GWASCAT Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis. 22936702

2013

dbSNP: rs1953600
rs1953600
0.800 GeneticVariation GWASDB Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis. 22936702

2013

dbSNP: rs1964995
rs1964995
0.800 GeneticVariation GWASDB Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility. 22952805

2012

dbSNP: rs1953600
rs1953600
0.800 GeneticVariation GWASDB Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis. 19165924

2008

dbSNP: rs1049550
rs1049550
0.770 GeneticVariation BEFREE In this population of Caucasian patients with sarcoidosis, only DRB1*03 was associated with disease resolution after 2 years' follow-up, with no significant interactions found for susceptibility gene SNPs ANXA11 rs1049550 or BTNL2 rs2076530. 27662826

2018