Expressive

rs11195128 - DUSP5-DT

Magnitude 2.8 · 4 studies on file

Reported associations

  • Regulatory Variants on the Leukocyte Immunoglobulin-Like Receptor Gene Cluster are Associated with Crohn's Disease and Interact with Regulatory Variants for TAP2. - Journal of Crohn's & colitis (2024) · Kim K, Oh SJ, Lee J, Kwon A, Yu CY, Kim S, Choi CH, Kang SB, Kim TO, Park DI, Lee CK · PubMed 37523193

    Crohn's disease [CD] has a complex polygenic aetiology with high heritability. There is ongoing effort to identify novel variants associated with susceptibility to CD through a genome-wide association study [GWAS] in large Korean populations. Genome-wide variant data from 902 Korean patients with CD and 72 179 controls were used to assess the genetic associations in a meta-analysis with previous Korean GWAS results from 1621 patients with CD and 4419 controls. Epistatic interactions between CD-risk variants of interest were tested using a multivariate logistic regression model with an interaction term. We identified two novel genetic associations with the risk of CD near ZBTB38 and within the leukocyte immunoglobulin-like receptor [LILR] gene cluster [p < 5 × 10-8], with highly co

  • Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations. - Gut (2014) · Yang SK, Hong M, Zhao W, Jung Y, Baek J, Tayebi N, Kim KM, Ye BD, Kim KJ, Park SH, Lee I, Lee EJ, Kim WH, Cheon JH, Kim YH, Jang BI, Kim HS, Choi JH, Koo JS, Lee JH, Jung SA, Lee YJ, Jang JY, Shin HD, Kang D, Youn HS, Liu J, Song K · PubMed 23850713

    Crohn's disease (CD) is an intractable inflammatory bowel disease (IBD) of unknown cause. Recent meta-analysis of the genome-wide association studies (GWAS) and Immunochip data identified 163 susceptibility loci to IBD in Caucasians, however there are limited studies in other populations. We performed a GWAS and two validation studies in the Korean population comprising a total of 2311 patients with CD and 2442 controls. We confirmed four previously reported loci: TNFSF15, IL23R, the major histocompatibility complex region, and the RNASET2-FGFR1OP-CCR6 region. We identified three new susceptibility loci at genome-wide significance: rs6856616 at 4p14 (OR=1.43, combined p=3.60×10(-14)), rs11195128 at 10q25 (OR=1.42, combined p=1.55×10(-10)) and rs11235667 at 11q13 (OR=1.46, combined p=7.15

  • Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries - Unknown journal (n.d.) · Unknown authors · PubMed 37156999

    ABSTRACT: Inflammatory bowel diseases (IBD) are chronic disorders of the gastrointestinal tract with two subtypes: Crohn's disease (CD) and ulcerative colitis (UC). To date, most IBD genetic associations were derived from individuals of European ancestries (EUR). Here we report the largest IBD study of individuals of East Asian ancestries (EAS), including 14,393 cases and 15,456 controls. We found 80 IBD loci in EAS alone and 320 when meta-analyzed with ~370,000 EUR individuals (~30,000 cases), among which 81 are novel. EAS enriched coding variants implicate many new IBD genes, including ADAP1 and GIT2. While IBD genetic effects are generally consistent across ancestries, genetics underlying CD appears more ancestry dependent than UC, driven by both allele frequency (NOD2) and effect (TN

  • Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease - Unknown journal (n.d.) · Unknown authors · PubMed 28067908

    ABSTRACT: Genetic association studies have identified 215 risk loci for inflammatory bowel disease, which have revealed fundamental aspects of its molecular biology. We performed a genome-wide association study of 25,305 individuals, and meta-analyzed with published summary statistics, yielding a total sample size of 59,957 subjects. We identified 25 new loci, three of which contain integrin genes that encode proteins in pathways identified as important therapeutic targets in inflammatory bowel disease. The associated variants are correlated with expression changes in response to immune stimulus at two of these genes (ITGA4, ITGB8) and at previously implicated loci (ITGAL, ICAM1). In all four cases, the expression increasing allele also increases disease risk. We also identified likely cau

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