https://scholars.lib.ntu.edu.tw/handle/123456789/412826
Title: | Integrative Genome-Wide Association Studies of eQTL and GWAS Data for Gout Disease Susceptibility | Authors: | Lee, Meng-Tse Gabriel Hsu, Tzu-Chun SHYR-CHYR CHEN Lee, Ya-Chin PO-HSIU KUO Yang, Jenn-Hwai HSIU-HAO CHANG HSIU-PO KUO CHIEN-CHANG LEE |
Issue Date: | 21-Mar-2019 | Publisher: | NATURE PUBLISHING GROUP | Journal Volume: | 9 | Journal Issue: | 1 | Source: | Scientific reports | Abstract: | There is a paucity of genome-wide association study on Han Chinese gout patients. We performed a genome-wide association meta-analysis on two Taiwanese cohorts consisting of 758 gout cases and 14166 controls of Han Chinese ancestry. All the participants were recruited from the Taiwan Biobank. For pathway analysis, we applied ICSNPathway (Identify candidate Causal SNPs and Pathways) analysis, and to investigate whether expression-associated genetic variants contribute to gout susceptibility, we systematically integrated lymphoblastoid expression quantitative trait loci (eQTL) and genome-wide association data of gout using Sherlock, a Bayesian statistical frame-work. In the meta-analysis, we found 4 SNPs that reached genome-wide statistical significance (P < 5.0 × 10-8). These SNPs are in or close to ABCG2, PKD2 and NUDT9 gene on chromosome 4. ICSNPathway analysis identified rs2231142 as the candidate causal SNP, and ABCG2 as the candidate gene. Sherlcok analysis identified three genes, which were significantly associated with the risk of gout (PKD2, NUTD9, and NAP1L5). To conclude, we reported novel susceptible loci for gout that has not been previously addressed in the literature. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/412826 | ISSN: | 2045-2322 | DOI: | https://api.elsevier.com/content/abstract/scopus_id/85063319726 10.1038/s41598-019-41434-4 |
SDG/Keyword: | adult; aged; gene linkage disequilibrium; genetic predisposition; genetics; genome-wide association study; gout; human; lymphocyte; meta analysis; metabolism; middle aged; quantitative trait locus; regulator gene; risk factor; single nucleotide polymorphism; Adult; Aged; Genes, Regulator; Genetic Predisposition to Disease; Genome-Wide Association Study; Gout; Humans; Linkage Disequilibrium; Lymphocytes; Middle Aged; Polymorphism, Single Nucleotide; Quantitative Trait Loci; Risk Factors |
Appears in Collections: | 流行病學與預防醫學研究所 |
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