Behcet Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, association of the other IL-23R polymorphisms could not be estimated owing to the lack of studies.<b>Abbreviations</b>: BD: Behcet's disease; SNP: single nucleotide polymorphism; HLA: human leukocyte antigen; IL: interleukin; OR: odds ratio; CI: confidence interval; HWE: Hardy-Weinberg equilibrium; UK: United Kingdom; NOS: Newcastle-Ottawa scale; GWAS: genome-wide association study; TNF-α: tumor necrosis factor-α.
|
31814470 |
2019 |
Behcet Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Along with human leukocyte antigen gene encoding B*51 (HLA-B*51) and areas including the major histocompatibility complex class I, genome-wide association studies have recognized numerous other BD susceptibility genes including those encoding interleukin (IL)-10, IL-12 receptor β 2 (IL-12RB2), IL-23 receptor (IL-23R), C-C chemokine receptor 1 gene, signal transducer and activator of transcription 4 (STAT4), endoplasmic reticulum aminopeptidase (ERAP1), and genes encoding killer cell lectin-like receptor family members (KLRC4-KLRK1).
|
30341905 |
2019 |
Behcet Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our findings not only confirmed the association of IL10/rs1800871 and IL23R-IL12RB2/rs924080 with BD but also identified 2 susceptibility single nucleotide polymorphisms in IL10 and IL23R-IL12RB2 (rs3024490 and rs12141431) with BD in Han Chinese.
|
27464962 |
2017 |
Behcet Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
An IL23R-IL12RB2 intergenic SNP rs1495965 was significantly associated with BD risk (OR (95% CI) = 1.5 (1.3, 1.7), P = 2.5 × 10<sup>-7</sup>) in the pooled meta-analysis of the discovery (1.4 (1.2, 1.7), P = 4.9 × 10<sup>-7</sup>) and replication (1.9 (1.3, 2.6), P = 6.0 × 10<sup>-4</sup>) phases.
|
29017598 |
2017 |
Behcet Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SNPs (rs924080 and rs11209032) of the IL23R-IL12RB2 region were found to be associated with BD in a Northern Chinese Han population.
|
27660093 |
2016 |
Behcet Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
DNA sequencing around a SNV (Rs12119179) tightly linked to BD revealed an elevated frequency of the C genotype, consistent with a previous report that IL23R is a susceptibility locus for BD.
|
26785681 |
2016 |
Behcet Syndrome
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Baseline IL23R expression was higher in BD males compared with females but the difference disappeared after T. When BD patients were analyzed separately, baseline C-C motif chemokine receptor1 (CCR1), STAT4, TLR4 and KLRC4 expressions were lower in males.
|
27467286 |
2016 |
Behcet Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Regarding the non-HLA genes, in addition to IL-23R, previously reported in our population; IL12A, described in other populations, was found to be a BD susceptibility factor also in Spaniards; finally, a new associated locus was found in the JRKL/CNTN5 region.
|
27548383 |
2016 |
Behcet Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Behçet's disease (BD) is an immune-mediated and complex disease which has been associated with HLA class I molecules although other genes such as IL23R and IL10 have also been involved in the susceptibility to BD.
|
26005883 |
2016 |
Behcet Syndrome
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The expression of IL-23R was significantly higher in both BD patients and healthy controls with the GG genotype compared to the AG and AA genotype with anti-CD3 and CD28 stimulation (all P-value < 0.05).
|
26222305 |
2015 |
Behcet Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Association of CNVs in IL17A, IL17F, IL23A, and IL23R with BD and VKH syndrome and the functional roles of IL17F CNVs.
|
25439430 |
2015 |
Behcet Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
This study reinforces the notion that CCR1, KLRC4, IL12A-AS1, STAT4, and ERAP1 are bona fide susceptibility genes for BD, in addition to the MHC, IL10, and IL23R-IL12RB2 loci.
|
26097239 |
2015 |
Behcet Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Non-HLA genetic associations such as endoplasmic reticulum aminopeptidase 1 (ERAP1), interleukin 23 receptor (IL23R) and IL10 variations suggest that BD shares susceptibility genes and inflammatory pathways with spondyloarthritis.
|
26068404 |
2015 |
Behcet Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Although we were not able to formally replicate the association with IL10 and IL23R-IL12RB2, we do report that BD in Iran is strongly associated with HLA-B*51, MICA-A6, and the three HLA-linked SNPs (odds ratio (OR) = 3.38, P = 6.21 × 10(-14); OR = 2.08, P = 1.58 × 10(-13); and OR = 1.67-4.05, P = 1.45 × 10(-04) to 4.79 × 10(-34), respectively).
|
25940109 |
2015 |
Behcet Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To investigate the association between BD and five single nucleotide polymorphisms (SNP) in the gene for interleukin (IL)-23 receptor (IL-23R).
|
25156021 |
2014 |
Behcet Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Regarding the non-HLA genes, the three SNPs located in IL23R and one of the SNPs in IL10 were found to be significantly associated with susceptibility to BD in our population.
|
24286189 |
2013 |
Behcet Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Three risk loci shared with ankylosing spondylitis and psoriasis (the MHC class I region, ERAP1 and IL23R and the MHC class I-ERAP1 interaction), as well as two loci shared with inflammatory bowel disease (IL23R and IL10) implicate shared pathogenic pathways in the spondyloarthritides and Behçet's disease.
|
23291587 |
2013 |
Behcet Syndrome
|
0.400 |
SusceptibilityMutation
|
disease |
ORPHANET |
Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease.
|
23633568 |
2013 |
Behcet Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
By stringent criteria requiring at least a single burden test with study-wide significance and a corroborating test with at least nominal significance, rare and low-frequency NSVs in one GWAS-identified gene, IL23R (P = 6.9 × 10(-5)), and one gene involved in innate immunity, TLR4 (P = 8.0 × 10(-4)), were associated with BD.
|
23633568 |
2013 |
Behcet Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Two recent large genome-wide association study (GWAS) conducted in Turkey and Japan reported association between single nucleotide polymorphism (SNP) of interleukin (IL)-10 and IL-23R/IL-12RB2 genes and BD.
|
22197900 |
2012 |
Behcet Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our results indicate that the interaction of specific IL17A, IL23R, and STAT4 SNPs modulate susceptibility to intestinal BD in the Korean population, suggesting that the IL-17/23 axis plays a significant role in disease pathogenesis.
|
22483685 |
2012 |
Behcet Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Six SNPs in IL23R-IL12RB2 were found to be associated with BD after Bonferroni correction for multiple testing, the most significant of which were rs17375018 (OR for G allele 1.51, 95% CI 1.27-1.78, P(unadj) = 1.93 × 10(-6) ), rs7517847 (OR for T allele 1.48, 95% CI 1.26-1.74, P(unadj) = 1.23 × 10(-6) ), and rs924080 (OR for T allele 1.29, 95% CI 1.20-1.39, P = 1.78 × 10(-5) ).
|
22378604 |
2012 |
Behcet Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease.
|
20622878 |
2010 |
Behcet Syndrome
|
0.400 |
GeneticVariation
|
disease |
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 |
Behcet Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behçet's disease susceptibility loci.
|
20622879 |
2010 |