|
Atrial Fibrillation
|
0.400 |
GeneticVariation
|
disease |
GWASCAT |
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
|
30061737 |
2018 |
|
Asthma
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
The first GWAS was published in 2007, and described a new locus associated to asthma in chromosome 17q12-q21, involving the ORMDL3, GSDMB and ZPBP2 genes (a description of the genes named in the manuscript are listed in Table 1).
|
25433770 |
2016 |
|
Asthma
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
Here, we tested the hypothesis that the zona pellucida-binding protein 2 (ZPBP2) gene residing in this region contributes to asthma pathogenesis using a mouse model.
|
29536159 |
2018 |
|
Asthma
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
We evidenced a new locus in the 16q12 region (near cylindromatosis turban tumor syndrome gene [CYLD]) and confirmed 4 asthma risk regions: 2q12 (IL-1 receptor-like 1 [IL1RL1]), 6p21 (HLA-DQA1), 9p24 (IL33), and 17q12-q21 (zona pellucida binding protein 2 [ZPBP2]-gasdermin A [GSDMA]).
|
27130862 |
2016 |
|
Asthma
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
Combined with the results of the present work, these data converge pointing to the same 5 kb region within the ZPBP2 gene as a critical region for both gene expression regulation and predisposition to asthma.
|
23546690 |
2013 |
|
Asthma
|
0.180 |
GeneticVariation
|
disease |
GWASDB |
Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.
|
21804549 |
2011 |
|
Asthma
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.
|
19732864 |
2009 |
|
Asthma
|
0.180 |
GeneticVariation
|
disease |
GWASCAT |
Detection and interpretation of shared genetic influences on 42 human traits.
|
27182965 |
2016 |
|
Asthma
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
We found that a single nucleotide polymorphism rs4795397 influences the activity of ZPBP2 promoter in vitro in an allele-dependent fashion, and also leads to nucleosome repositioning on the asthma-associated allele.
|
22271045 |
2012 |
|
Asthma
|
0.180 |
GeneticVariation
|
disease |
GWASDB |
A large-scale, consortium-based genomewide association study of asthma.
|
20860503 |
2010 |
|
Primary biliary cirrhosis
|
0.110 |
GeneticVariation
|
disease |
GWASDB |
Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.
|
22936693 |
2012 |
|
Primary biliary cirrhosis
|
0.110 |
GeneticVariation
|
disease |
GWASDB |
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
|
22961000 |
2012 |
|
Primary biliary cirrhosis
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Here, we show an efficient approach for identification of a functional variant in a primary biliary cholangitis (PBC)-susceptible region, chromosome 17q12-21 (ORMDL3-GSDMB-ZPBP2-IKZF3).
|
28588209 |
2017 |
|
Crohn Disease
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
|
26974007 |
2016 |
|
Rheumatoid Arthritis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.
|
30423114 |
2019 |
|
Cholangitis, Sclerosing
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
|
26974007 |
2016 |
|
Ulcerative Colitis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
|
26974007 |
2016 |
|
Psoriasis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
|
26974007 |
2016 |
|
Ankylosing spondylitis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
|
26974007 |
2016 |
|
Childhood asthma
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma.
|
17611496 |
2007 |
|
Allergic Reaction
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
|
23817569 |
2013 |
|
Allergic rhinitis (disorder)
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.
|
30013184 |
2018 |
|
Lupus Erythematosus, Systemic
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study.
|
22464253 |
2012 |
|
Autoimmune Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.
|
19732864 |
2009 |
|
Hyperuricemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
ZPBP2 p.T69I was at the non-conserved region and was predicted to be benign by in silico analysis, whereas GPATCH8 p.A979P was at a highly conserved region and was predicted to be deleterious, which made p.A979P a conceivable candidate for juvenile-onset hyperuricemia.
|
21594610 |
2011 |