Genome-wide association studies--a summary for the clinical gastroenterologist.

World Journal of Gastroenterology : WJG
Espen MelumTom H Karlsen

Abstract

Genome-wide association studies (GWAS) have been applied to various gastrointestinal and liver diseases in recent years. A large number of susceptibility genes and key biological pathways in disease development have been identified. So far, studies in inflammatory bowel diseases, and in particular Crohn's disease, have been especially successful in defining new susceptibility loci using the GWAS design. The identification of associations related to autophagy as well as several genes involved in immunological response will be important to future research on Crohn's disease. In this review, key methodological aspects of GWAS, the importance of proper cohort collection, genotyping issues and statistical methods are summarized. Ways of addressing the shortcomings of the GWAS design, when it comes to rare variants, are also discussed. For each of the relevant conditions, findings from the various GWAS are summarized with a focus on the affected biological systems.

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Citations

Jun 10, 2010·Expert Review of Gastroenterology & Hepatology·Orla F Craig, Eamonn M M Quigley
Jun 10, 2011·Expert Review of Gastroenterology & Hepatology·Giovanni C ActisIan R Mackay
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Mar 17, 2010·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Tom H KarlsenAndre Franke
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Sep 13, 2020·The Journal of Immunology : Official Journal of the American Association of Immunologists·Daniel SwaffordSanthakumar Manicassamy

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