Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10741657
rs10741657
0.010 GeneticVariation BEFREE The aim of this study was to investigate the association between single nucleotide polymorphisms (SNPs) in <i>CYP2R1</i> (rs10741657), <i>CYP27B1</i> (rs10877012), <i>DBP</i> (rs7041; rs4588), and <i>VDR</i> (rs2228570<i>)</i> genes and sarcoidosis, as well as the association between these SNPs and 25(OH)D levels in sarcoidosis patients. 31572458

2019

dbSNP: rs10877012
rs10877012
0.010 GeneticVariation BEFREE Subjects carrying the CC genotype of <i>CYP27B1</i> rs10877012 have 10 times lower odds of suffering from sarcoidosis. 31572458

2019

dbSNP: rs4588
rs4588
GC
0.010 GeneticVariation BEFREE In addition, the A allele of the <i>DBP</i> gene (rs4588) was associated with lower levels of 25(OH)D in sarcoidosis patients. 31572458

2019

dbSNP: rs3177928
rs3177928
0.010 GeneticVariation BEFREE Five SNPs were associated with sarcoidosis disease course (the strongest association with rs3177928, <i>P</i> = 0.003, OR = 1.9). 28469621

2017

dbSNP: rs9905945
rs9905945
0.010 GeneticVariation BEFREE The main objective of this study was to expand the previous results and analyse combined influence of the found ACE SNP rs9905945 with the protective HLA markers HLADRB1* 03:01 and HLA-DRB1*04:01-DPB1*04:01 in 188 Finnish sarcoidosis patients (resolved disease, n = 90; persistent disease, n = 98). 29229112

2017

dbSNP: rs3775291
rs3775291
0.010 GeneticVariation BEFREE We conclude that TLR3 SNP rs3775291 may affect cardiac involvement in Japanese patients with sarcoidosis. 25720507

2015

dbSNP: rs2573351
rs2573351
0.010 GeneticVariation BEFREE In block 2 (rs1049550-rs2573351), the T-C haplotype occurred significantly less frequently (p=0.001), whereas the C-C haplotypes occurred more frequently (p=0.0001) in patients with sarcoidosis than controls. 25056970

2014

dbSNP: rs2819941
rs2819941
0.010 GeneticVariation BEFREE Statistically significant differences were found in the allelic or genotypic frequencies of the rs2789679, rs1049550 and rs2819941 in the ANXA11 gene between patients with sarcoidosis</span> and controls. 25056970

2014

dbSNP: rs6502976
rs6502976
0.010 GeneticVariation BEFREE The locus on chromosome 17p13.3-13.1 revealed a novel sarcoidosis risk SNP, rs6502976 (p = 9.5*10-6), within intron 5 of the gene X-linked Inhibitor of Apoptosis Associated Factor 1 (XAF1) that accounted for the majority of the admixture linkage signal. 24663488

2014

dbSNP: rs74318745
rs74318745
0.010 GeneticVariation BEFREE Within the 6p24.3-p12.1 locus, the most significant ancestry-adjusted SNP was rs74318745 (p = 9.4*10-11), an intronic SNP within the HLA-DRA gene that did not solely explain the admixture signal, indicating the presence of more than a single risk variant within this well-established sarcoidosis risk region. 24663488

2014

dbSNP: rs1050045
rs1050045
OS9
0.010 GeneticVariation BEFREE SNP rs1050045 was significantly associated with sarcoidosis (corrected p=0.0215) in the validation panel and yielded a p-value of 9.22 × 10(-8) (OR 1.24) in the meta-analysis of the screening and validation stage. 22936702

2013

dbSNP: rs179008
rs179008
0.010 GeneticVariation BEFREE The presence of the TLR7 rs179008/Gln11Leu polymorphism in sarcoidosis may determine an alteration of TLR7 function hampering the signaling pathway involved in the onset of both cellular and humoral autoimmunity. 24071890

2013

dbSNP: rs1799724
rs1799724
LTA ; TNF
0.010 GeneticVariation BEFREE We concluded that the rs1799724 C/T polymorphism may affect susceptibility to cardiac sarcoidosis, while the rs1800871 T/C and rs1800872A/C polymorphisms may affect susceptibility to sarcoidosis with eye involvement. 24003533

2013

dbSNP: rs1800871
rs1800871
0.010 GeneticVariation BEFREE However, the prevalence of rs1800871 and rs1800872 polymorphisms differed significantly in the sarcoidosis with eye involvement group compared with the control group [rs1800871 TT (vs. TC + CC): OR = 1.67, P = 0.034; rs1800872 AA (vs. AC + CC): OR = 1.66, P = 0.036]. 24003533

2013

dbSNP: rs1800872
rs1800872
0.010 GeneticVariation BEFREE We concluded that the rs1799724 C/T polymorphism may affect susceptibility to cardiac sarcoidosis, while the rs1800871 T/C and rs1800872A/C polymorphisms may affect susceptibility to sarcoidosis with eye involvement. 24003533

2013

dbSNP: rs1800872
rs1800872
0.010 GeneticVariation BEFREE However, the prevalence of rs1800871 and rs1800872 polymorphisms differed significantly in the sarcoidosis with eye involvement group compared with the control group [rs1800871 TT (vs. TC + CC): OR = 1.67, P = 0.034; rs1800872 AA (vs. AC + CC): OR = 1.66, P = 0.036]. 24003533

2013

dbSNP: rs2004640
rs2004640
0.010 GeneticVariation BEFREE The haplotype carrying rs10954213A and rs2280714A (haplotype 2) was significantly associated with susceptibility to sarcoidosis (OR = 2.00, 95% CI = 1.24-3.24, P = 0.004, corrected P = 0.01). rs729302 and rs2004640 were not associated with susceptibility to sarcoidosis, whereas carriage of rs2004640G was protective against pulmonary hypertension (OR = 0.017, 95% CI = 0.002-0.15, P < 0.001, corrected P < 0.001). 23288367

2013

dbSNP: rs4377299
rs4377299
0.010 GeneticVariation BEFREE After adjustment for rs1049550, two additional novel ANXA11 sarcoidosis associations were identified only in African Americans--rs61860052 (odds ratio (OR)=0.62; 95% confidence interval (CI)=0.40-0.97) and rs4377299 (OR=1.31; 95% CI=1.06-1.63). 23151485

2013

dbSNP: rs4988453
rs4988453
0.010 GeneticVariation BEFREE We analyzed a total of 93 cases with sarcoidosis and of 89 controls for the most common MyD88 SNPs: -938C>A (rs4988453) and 1944C>G (rs4988457). 23666053

2013

dbSNP: rs61860052
rs61860052
0.010 GeneticVariation BEFREE After adjustment for rs1049550, two additional novel ANXA11 sarcoidosis associations were identified only in African Americans--rs61860052 (odds ratio (OR)=0.62; 95% confidence interval (CI)=0.40-0.97) and rs4377299 (OR=1.31; 95% CI=1.06-1.63). 23151485

2013

dbSNP: rs729302
rs729302
0.010 GeneticVariation BEFREE The haplotype carrying rs10954213A and rs2280714A (haplotype 2) was significantly associated with susceptibility to sarcoidosis (OR = 2.00, 95% CI = 1.24-3.24, P = 0.004, corrected P = 0.01). rs729302 and rs2004640 were not associated with susceptibility to sarcoidosis, whereas carriage of rs2004640G was protective against pulmonary hypertension (OR = 0.017, 95% CI = 0.002-0.15, P < 0.001, corrected P < 0.001). 23288367

2013

dbSNP: rs745738344
rs745738344
TNF
0.010 GeneticVariation BEFREE This meta-analysis extended previous findings on the association between the TNF-α and TNF-β genetic polymorphisms and sarcoidosis, by showing that the TNF-β gene A252G polymorphism might be a potential risk factor for the development of sarcoidosis. 24244632

2013

dbSNP: rs11013452
rs11013452
0.010 GeneticVariation BEFREE Haplotypic analyses of the C10ORF67-OTUD1 intergenic region revealed a strong inverse association of the variants rs1398024 and rs11013452 with sarcoidosis (odds ratio=0.52; P=0.01). 22972473

2012

dbSNP: rs1398024
rs1398024
0.010 GeneticVariation BEFREE Haplotypic analyses of the C10ORF67-OTUD1 intergenic region revealed a strong inverse association of the variants rs1398024 and rs11013452 with sarcoidosis (odds ratio=0.52; P=0.01). 22972473

2012

dbSNP: rs17235409
rs17235409
0.010 GeneticVariation BEFREE We investigated the association between SA and four polymorphisms of the SLC11A1 gene, including a single nucleotide change in intron 4 (INT4); a nonconservative single-base substitution at codon 543 (D543N); a TGTG deletion in the 3' untranslated region; and the functional (GT)(n) repeat polymorphism in the 5' region, in 95 Turkish SA patients and 150 healthy controls, by using amplification refractory mutation system-polymerase chain reaction and sequencing. 22160516

2012