Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility.

Abstract:

:Epidemiological and clinical studies have suggested that the pathogenesis of inflammatory bowel disease (IBD) is strongly influenced by genetic predisposition. Beyond the limitations of linkage analysis, multiple genome-wide association studies, their meta-analyses, and targeted genotyping array techniques have broadened our understanding of the genetic architecture of IBD. Currently, over 200 single nucleotide polymorphisms are known to be associated with susceptibility to IBD and through functional analysis of genes and loci, a substantial proportion of pathophysiologic mechanisms have been revealed. However, because only a modest fraction of predicted heritability can be explained by known genes/loci, additional strategies are needed including the identification of rare variants with large effect sizes to help explain the missing heritability. Considerable progress is also being made on applying outcomes of genetic research in diagnostics, classification, prognostics, and the development of new therapeutics of IBD.

authors

Ye BD,McGovern DP

doi

10.1080/1744666X.2016.1184972

subject

Has Abstract

pub_date

2016-10-01 00:00:00

pages

1091-107

issue

10

eissn

1744-666X

issn

1744-8409

journal_volume

12

pub_type

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