|
rs10050860
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our study showed that rs1065407 and rs10050860 of the ERAP1 gene may contribute to the genetic susceptibility of BD by modulating the expression of ERAP1.
|
26393469 |
2015 |
|
rs10050860
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Six SNPs (in decreasing order of significance, rs7616215 located 38 kb downstream of CCR1, rs2617170 [p.Asn104Ser] in KLRC4, rs17810546 in IL12A-AS1, rs7574070 in STAT4, and rs10050860 [p.Asp575Asn] and rs13154629 in ERAP1) were nominally associated with BD in both allelic association tests (5.05 × 10(-9) ≤ Pallele ≤ 7.55 × 10(-3) ) and sex-adjusted genotypic association tests (6.01 × 10(-9) ≤ adjusted P value ≤ 1.30 × 10(-2) ).
|
26097239 |
2015 |
|
rs10094579
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results showed that four SNPs (<i>LACC1</i>/rs9316059, <i>CEBPB-PTPN1</i>/rs913678, <i>ADO-EGR2</i>/rs224127 and <i>RIPK2</i>/rs10094579) were associated with BD in an allelic association test (rs9316059 T allele: p<sub>c</sub>=4.95×10<sup>-8</sup>, OR=0.687; rs913678 C allele: p<sub>c</sub>=3.01×10<sup>-4</sup>, OR=1.297; rs224127 A allele: p<sub>c</sub>=3.77×10<sup>-4</sup>, OR=1.274; rs10094579 A allele: p<sub>c</sub>=6.93×10<sup>-4</sup>, OR=1.302).
|
29907633 |
2018 |
|
rs10204525
|
|
|
0.010 |
GeneticVariation |
BEFREE |
None of the currently studied SNPs, PD-1 rs2227981 and rs10204525, PD-L1 rs1970000 and PD-L2 rs7854303, are associated with the susceptibility to Behcet's disease in a Chinese Han population.
|
22039410 |
2011 |
|
rs10236188
|
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease.
|
23041938 |
2013 |
|
rs10256482
|
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease.
|
23041938 |
2013 |
|
rs10277380
|
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease.
|
23041938 |
2013 |
|
rs10454134
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A higher frequency of both the rs10454134 AG genotypes (p = 0.008, OR = 1.413, 95% CI = 1.094-1.826) and a lower GG genotype frequency (p = 0.003, OR = 0.630, 95% CI = 0.465-0.854) were found in BD patients compared to the controls in the first stage.
|
31223615 |
2019 |
|
rs1045642
|
|
|
0.020 |
GeneticVariation |
BEFREE |
No significant difference was found between genotypic and allelic frequencies of the ABCB1 C3435T polymorphisms in patients with Behçet's disease and healthy volunteers.
|
21218380 |
2011 |
|
rs1045642
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We investigated the distribution of MDR1 C3435T polymorphism in 69 patients from the Iranian Azeri Turks group with BD and 92 ethnically sex-matched healthy controls, via the polymerase chain reaction-restriction fragment length polymorphism technique.
|
24898446 |
2014 |
|
rs1048709
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, subgroup analyses showed that CFB-rs1048709 was specifically associated with VKH, where significantly higher frequencies of A allele and AA homozygosity were observed in VKH patients compared with controls (P corr = 0.025 and P corr = 0.035, respectively), whereas none of these five SNPs was associated with IU or BD.
|
26671509 |
2016 |
|
rs104894559
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The CAIV p.R14W sequence variant found in one of the patients with a BD phenotype is a benign polymorphism in a population of northern Sweden.
|
18344446 |
2008 |
|
rs104895083
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutations A744S, P369S, R408Q, and F479L were reported for the first time in BD patients.
|
18609258 |
2008 |
|
rs104895094
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The heterozygous MEFV mutation (K695R) was found in one (2%) BD patient.
|
16273767 |
2006 |
|
rs104895297
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two patients had paired mutations in the MVK gene (genotypes V377I/V377I and V377I/S135L) and displayed typical features of BD and MKD.
|
17213252 |
2007 |
|
rs10499194
|
|
|
0.010 |
GeneticVariation |
BEFREE |
For rs10499194, a higher frequency of the CC genotype (p (c) = 0.015, OR [95% CI] 1.96 [1.30-2.97]) and C allele (p (c) = 0.005, OR [95% CI] 1.92 [1.28-2.90]), and a lower frequency of the TC genotype (p (c) = 0.015, OR [95% CI] 0.51 [0.34-0.77]) and T allele (p (c) = 0.005, OR [95% CI] 0.52 [0.35-2.97]) were found in BD patients.
|
23161053 |
2013 |
|
rs10515746
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two single-nucleotide polymorphisms of TIM-3 (rs9313439 and rs10515746) were genotyped in 212 patients with Behçet disease and 200 healthy controls.
|
31644615 |
2019 |
|
rs1057519328
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1061622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we investigated genetic polymorphisms of TNF alpha -308 G/A, TNF beta +252 G/A, and TNFR2 196 R/M in 94 Korean BD patients and age- and sex-matched healthy controls to investigate the role of TNF and TNF receptor polymorphisms in BD.
|
12770792 |
2003 |
|
rs1065407
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study showed that rs1065407 and rs10050860 of the ERAP1 gene may contribute to the genetic susceptibility of BD by modulating the expression of ERAP1.
|
26393469 |
2015 |
|
rs10863888
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three SNPs (rs6540679, rs12569232, rs10863888) of TRAF5 and rs13210247 of TRAF3IP2 were significantly associated with Behçet's disease and VKH syndrome (corrected P values ranging from 9.45×10(-12) to 0.027).
|
24416204 |
2014 |
|
rs111874856
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the presence of CC genotype for rs73963110, CT genotype for rs111874856 (Val355Ile), and TC genotype for rs112130712 (Lys1054Arg) polymorphisms, the risk of BD increased 12.13-, 15.05-, and 16.28-fold, respectively (p < 0.0001).
|
24566943 |
2014 |
|
rs11209026
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs11209026 G allele frequency was higher in male patients with BD than in male controls, and the rs7517847 G allele was higher in patients with genital ulcers.
|
25156021 |
2014 |
|
rs11209032
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Only a systematic review was conducted for rs12119179, rs11209032, and rs12141431, owing to the lack of sufficient data.<b>Conclusion</b>: This meta-analysis indicated that rs17375018 (G/A) and rs924080 (T/C) were associated with BD susceptibility.
|
31814470 |
2019 |
|
rs11209032
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The results also suggested that both rs11209032 AA and rs17375018 GG of IL-23R are predisposing genotypes for BD and that the AGCG haplotype may provide protection against BD.
|
20375120 |
2010 |