Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6887695
rs6887695
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.720 GeneticVariation BEFREE The GG genotype of rs6887695 SNP in IL12B gene plays a role in etiopathogenesis of MS. 28276258

2017

dbSNP: rs6887695
rs6887695
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.720 GeneticVariation BEFREE Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs1517440), YTHDF3 (rs12115114), ANKFN1 (rs17758761) and PTPRM (rs4798571), which did not reach the threshold of significance in a follow-up of the first genome-wide association study (GWAS) conducted in multiple sclerosis; TMEM39A (rs1132200), which appeared as a newly identified susceptibility gene in the same study; a gene previously reaching GWAS significance in Italy, CBLB (rs9657904); IL12B (rs6887695, rs10045431), a susceptibility gene shared by diverse autoimmune diseases and, finally, another gene showing inconclusive association with multiple sclerosis, CNR1 (rs1049353). 22194214

2012

dbSNP: rs6887695
rs6887695
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation BEFREE After correction for multiple testing with a false discovery rate of 5%, two SNPs remained significant: TNF (rs361525) was associated with PsO, PsC10, and PsA; and IL12B (rs6887695) was associated with PsO. 29389950

2018

dbSNP: rs6887695
rs6887695
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation BEFREE This study aims to assess whether the association between the non-susceptibility allelic variants of IL12B single-nucleotide polymorphism (SNPs) rs3212227 and rs6887695, IL23R SNPs rs11209026 and rs7530511, IL6 SNP rs1800795 and HLA-Cw6 could be correlated with decreased risk for psoriasis. 24140476

2014

dbSNP: rs6887695
rs6887695
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation BEFREE Our study showed significant associations between psoriasis and both IL12B gene SNPs, rs3212227 (odds ratio (OR) = 1.35, P = 4.94E-04) and rs6887695 (OR = 1.32, P = 2.00E-03), but no significant association between psoriasis and the IL23R SNP, rs11209026. 23955419

2013

dbSNP: rs6887695
rs6887695
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation BEFREE This meta-analysis showed that the IL-23 R (rs11209026 and rs7530511) polymorphisms are associated with psoriasis risk in Europeans and that the IL-12B (rs6887695 and rs3212227) polymorphisms are associated with susceptibility to psoriasis in Europeans. 23844553

2013

dbSNP: rs6887695
rs6887695
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation BEFREE Then, for rs6887695, the pooled ORs were 0.704 (95 % CI 0.670-0.739) for psoriasis and 0.677 (95 % CI 0.599-0.767) for PsA. 23297015

2013

dbSNP: rs6887695
rs6887695
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation BEFREE The genetic polymorphism of the IL-12B gene (rs6887695) may be associated with the psoriasis susceptibility in the Chinese Han population, especially for the plaque cases, but not associated with the age at onset, family history, or sex. 23564024

2013

dbSNP: rs6887695
rs6887695
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation BEFREE To investigate the relationships of these predisposing polymorphisms with psoriasis in the Chinese Han population, we genotyped three representative variants (rs6887695</span>, rs11465817, and rs1343152) in 217 unrelated patients and 288 control subjects using direct sequencing, We further replicated the positive polymorphism, rs6887695, in a larger combined sample that included 578 patients and 1422 controls. 20875477

2010

dbSNP: rs6887695
rs6887695
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation BEFREE One of the IL12B markers, rs3212227, showed significant association with psoriasis (OR = 1.64, P = 0.0058) while the other, rs6887695, did not (OR = 1.29, P = 0.12). 19705136

2010

dbSNP: rs6887695
rs6887695
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation BEFREE Both IL12B markers showed highly significant association with psoriasis in the case-control (rs3212227, odds ratio (OR)=1.62, P=1.7 x 10(-15); rs6887695, OR=1.49, P=2.7 x 10(-15)) and in the family-based analysis (rs3212227, P=2.2 x 10(-3); rs6887695, P=1.7 x 10(-3)). 18219280

2008

dbSNP: rs6887695
rs6887695
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation BEFREE We replicated the previously reported association with interleukin 23 receptor and interleukin 12B (IL12B) polymorphisms in PS and PSA cohorts (IL23R: rs11209026, U.S. PS, P = 1.4x10(-4); U.K. PSA: P = 8.0x10(-4); IL12B:rs6887695, U.S. PS, P = 5x10(-5) and U.K. PSA, P = 1.3x10(-3)) and detected an independent association in the IL23R region with a SNP 4 kb upstream from IL12RB2 (P = 0.001). 18369459

2008

dbSNP: rs6887695
rs6887695
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation BEFREE Haplotypes were estimated, and genotype-conditioned analyses identified a second risk allele (rs6887695) located approximately 60 kb upstream of the IL12B coding region that exhibited association with psoriasis after adjustment for rs3212227. 17236132

2007

dbSNP: rs6887695
rs6887695
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic
0.050 GeneticVariation BEFREE The association to PsA was observed in the presence of polymorphisms: TNF-238 G > A (rs361525), -308 G > A (rs1800629), and -857 C > T (rs1799724); IL12B C > G (rs6887695) and A > C (rs3212227); IL23A A > G (rs2066808) and IL23R G > A (rs11209026). 30584776

2019

dbSNP: rs6887695
rs6887695
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic
0.050 GeneticVariation BEFREE After correction for multiple testing with a false discovery rate of 5%, two SNPs remained significant: TNF (rs361525) was associated with PsO, PsC10, and PsA; and IL12B (rs6887695) was associated with PsO. 29389950

2018

dbSNP: rs6887695
rs6887695
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic
0.050 GeneticVariation BEFREE Then, for rs6887695, the pooled ORs were 0.704 (95 % CI 0.670-0.739) for psoriasis and 0.677 (95 % CI 0.599-0.767) for PsA. 23297015

2013

dbSNP: rs6887695
rs6887695
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic
0.050 GeneticVariation BEFREE For both PA and PV, we detected the strongest association with two IL12B single-nucleotide polymorphisms and the corresponding haplotype as reflected by minimal P-values of 10(-7) and highest odds ratios of 1.50 (1.28-1.75) for rs6887695 in PA patients and 1.50 (1.27-1.76) for rs3212227 in the PV cohort, respectively. 18800148

2009

dbSNP: rs6887695
rs6887695
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic
0.050 GeneticVariation BEFREE Both IL12B SNPs were independently associated with PsA susceptibility, and this association was strongest under a dominant model, with homozygosity for the common allele being more frequent in patients with PsA than in control subjects: for rs3212227, the odds ratio (OR) for carriage of AA versus other genotypes was 1.43 (95% confidence interval [95% CI] 1.17-1.76); for rs6887695, the OR for carriage of GG versus other genotypes was 1.43 (95% CI 1.18-1.74). 19035472

2008

dbSNP: rs6887695
rs6887695
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.040 GeneticVariation BEFREE Our genetic association study revealed that the polymorphisms of IL12B rs6887695 were associated with both CD and ulcerative colitis (UC) susceptibility in Chinese population, but did not affect the serum IL12p40 level in either CD patients or UC patients. 25761185

2015

dbSNP: rs6887695
rs6887695
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.040 GeneticVariation BEFREE The polymorphisms TLR5 (rs5744174) and IL12B (rs6887695) were associated with risk of CD, and TLR1 (rs4833095) and IL18 (rs187238) were associated with risk of both CD and UC (p<0.05). 26698117

2015

dbSNP: rs6887695
rs6887695
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.040 GeneticVariation BEFREE Our analysis revealed an association of the IL12B SNP rs6887695 with susceptibility to IBD (p = 0.035; OR 1.15 [95% CI 1.01-1.31] including a trend for rs6887695 for association with CD (OR 1.41; [0.99-1.31], p = 0.066) and UC (OR 1.18 [0.97-1.43], p = 0.092). 22479607

2012

dbSNP: rs6887695
rs6887695
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.040 GeneticVariation BEFREE Further genotype-phenotype analysis found a significant association between rs6887695 and patients with pure ileal CD. 18936107

2009

dbSNP: rs6887695
rs6887695
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.030 GeneticVariation BEFREE The pooled results demonstrated that IL-12B rs3212227 (homozygote model: OR = 0.96, 95 % CI = 0.81-1.15; heterozygote model: OR = 1.07, 95 % CI = 0.93-1.23; dominant model: OR = 1.05, 95 % CI = 0.91-1.20; recessive model: OR = 0.93, 95 % CI = 0.79-1.10) and rs6887695 (homozygote model: OR = 1.01, 95 % CI = 0.84-1.21; heterozygote model: OR = 1.14, 95 % CI = 0.86-1.51; dominant model: OR = 1.14, 95 % CI = 0.87-1.48; recessive model: OR = 1.01, 95 % CI = 0.85-1.21) polymorphisms may not be associated with RA risk. 27312970

2017

dbSNP: rs6887695
rs6887695
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.030 GeneticVariation BEFREE However, rs6887695 was associated with RA in Asian patients. 27155343

2016

dbSNP: rs6887695
rs6887695
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.030 GeneticVariation BEFREE Individuals carrying the rs3212227/rs6887695 C/C haplotype were associated with a significantly increased risk of RA. 25469793

2015