IL1A, interleukin 1 alpha, 3552

N. diseases: 1002; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE There is a negative correlation between the IL-1A rs3783550 and IL-1A rs3783546 polymorphisms in the AS patients in relation to controls. 31726259 2020
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE AS patients with PA showed an earlier age of disease onset (p=0.021), longer disease duration (p=0.020) and longer duration of AS symptoms from onset (p=0.034) than AS patients without PA. We found significant associations with the presence of PA at disease onset in 14 SNPs located in 10 genes: HLA-DQB2 (rs2857210 and rs9276615), HLA-DOB (rs2857151, rs2621332 and rs1383261), JAK2 (rs7857730), IL-23R (rs11209008 and rs10489630), CYP1B1 (rs1056836), NELL1 (rs8176786), KL (rs564481), and MEFV (rs224204), IL-2RB (rs743777) and IL-1A (rs1800587). 30299251 2019
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE Improved knowledge of the immune/inflammatory pathways, which characterise the pathophysiology of rheumatoid arthritis (RA) and seronegative spondyloarthropathies (SpA), such as ankylosing spondylitis (AS) and psoriatic arthritis (PsA), have provided the link between inflammation and bone loss, via a complex network of bone cells, T and B cells, pro-inflammatory cytokines such as TNF-α, IL1, IL6, IL17, IL23, costimulator molecules, signalling pathways including both RANKL/RANK/OPG and Wnt signallings. 30557124 2019
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE The aim of this study was to investigate the diagnostic and prognostic role of 5 single-nucleotide polymorphisms related to IL-23 pathway and IL-1 cluster genes in AS patients. 29200018 2018
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE The aim of this study was to perform a meta-analysis to derive precise estimation of the association of interleukin-23 receptor (IL-23R), IL-1 receptor 2 (IL-1R2), IL-12 beta (IL-12B), IL-10 and tumour necrosis factor (TNF)-α polymorphisms with ankylosing spondylitis (AS) susceptibility. 30322951 2018
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE Our results suggested that the polymorphisms of IL-1A and IL-1B are associated with the AS susceptibility in the Chinese Han population. 28423679 2017
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE Polymorphisms in the IL-1 gene cluster have previously been associated with ankylosing spondylitis (AS), a subset of spondyloarthritis. 22312160 2012
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE In addition to the three known IL-1 polymorphisms, rs2856836, rs17561, and rs1894399, found in previous meta-analysis, this meta-analysis shows that the IL-1F10.3 and IL-1A+889 polymorphisms are associated with the development of AS in Europeans but not in Asians. 21962386 2012
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE The allele and genotype frequencies of the polymorphisms were determined: The IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not significantly associated with AS. 22285486 2011
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE Association of IL-1 gene complex members with ankylosing spondylitis in Chinese Han population. 19930406 2010
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE This study reports four genetic loci associated with ankylosing spondylitis risk and identifies a major role for the interleukin (IL)-23 and IL-1 cytokine pathways in disease susceptibility. 20062062 2010
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE The identification of new genes-ARTS1, IL23R, and IL1A-substantiate that susceptibility to AS is also determined by genes outside the MHC. 19772829 2009
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE This study confirms that IL1A is associated with susceptibility to AS. 18063673 2008
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE The recent identification of two new genes, ARTS1 and IL23R, and confirmation of IL-1A association further substantiate that ankylosing spondylitis is determined to a large extent by genes outside the major histocompatibility complex. 18525349 2008
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE In total, 451 patients with AS and 402 ethnically matched healthy controls were genotyped with 51 single-nucleotide polymorphisms (SNP) within the IL-1 gene cluster (specifically located within the IL1A, IL1B, IL1RN, and IL1F5-10 genes based on findings of previous association studies). 18484691 2008
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE Thus, we studied IL-1 receptor antagonist polymorphism in Indian patients with AS. 17899305 2008
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE Regions previously associated with AS on chromosome 2q (the IL-1 gene cluster) and 22q (CYP2D6) exhibited nominal linkage in the meta-analysis, providing further statistical support for their involvement in susceptibility to AS. 17259653 2007
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE The IL1 gene cluster is associated with AS in Taiwanese Chinese. 16361275 2006
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE Since there is clinical and immunologic overlap between psoriatic arthritis (PsA) and AS, we wanted to examine the association between a panel of single-nucleotide polymorphisms (SNPs) in the IL1 gene family cluster and chromosome 2q12-13 in a PsA cohort. 16918024 2006
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE These results indicate that the IL1 locus, or a locus close to IL1, is associated with susceptibility to AS. 16508980 2006
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE However, several independent groups have reported significant associations between ankylosing spondylitis and the IL-1 gene cluster on the long arm of chromosome 2. 16650794 2006
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE There are reports of IL-1 complex gene polymorphisms in ankylosing spondylitis (AS), but the results have been inconsistent. 16206345 2005
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE In the current study, we describe strong association and transmission of IL-1 family gene cluster single-nucleotide polymorphisms and haplotypes with AS. 15309690 2004
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE This report of an association with a polymorphic site within the IL-1 locus and AS suggests that genes other than B27 may well be involved in the pathogenesis of AS. 11752505 2001
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE As the marker D2S160 has been characterized as a candidate locus for Ankylosing Spondylitis (AS) after a genome-wide scan, and since this locus is located approximately 0.3 cM telomeric to the IL-1 gene cluster, we hypothesized that these cytokines might be good candidates for Spondylarthropathies (SpA). 11145849 2001