Enrichment analysis and chromosomal distribution of gout susceptible loci identified by genome-wide association studies


  • Mostafa Saadat Department of Biology, School of Science, Shiraz University, Shiraz 71467-13565, Iran; Tel: +98-71-36137432; Fax: +98-71-32280926; E-mail: saadat@shirazu.ac.ir https://orcid.org/0000-0002-0021-4055




chromosome, enrichment analysis, gout, gene ontology


Gout is an inherited and common inflammatory arthritic disease. Many researchers will identify polymorphic loci of gout susceptibility by conducting genome-wide association studies (GWAS). In the present study, the enrichment analysis and chromosomal distribution were performed using predicted polymorphic loci associated with gout risk. The polymorphic loci associated to gout were obtained from the GWAS database. Overall, this database contains 64,806 gout patients and 2,856,174 controls. Gene ontology functional annotation and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis were performed by using the Enrichr online server. A total of 110 common polymorphic protein-coding loci associated with gout risk were identified and included in the analysis. The results of the KEGG analysis showed that the gout-associated loci were mainly related to ABC transporters, endocrine and other factor-regulated calcium reabsorption, and gastric acid secretion pathways. The gene ontology analysis showed that the biological processes of the gout-associated loci were vascular transport, transport across the blood-brain barrier, positive regulation of transporter activity, and positive regulation of transcription by RNA polymerase II. The top cellular component was the external side of the apical plasma membrane. Statistical analysis revealed that the human chromosome segments 1q22, 4p16.1, 6p21.1-p21.2, 11q13.1-q13.2, 12q13.11-q13.3, and 12q24.1 had significantly bearing higher numbers of gout susceptibility loci.



How to Cite

Saadat, M. (2023). Enrichment analysis and chromosomal distribution of gout susceptible loci identified by genome-wide association studies. EXCLI Journal, 22, 1146–1154. https://doi.org/10.17179/excli2023-6481



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