Genome-wide association studies in Crohn's disease: Past, present and future.
Publication Date
2018-01-31Journal Title
Clinical & translational immunology
ISSN
2050-0068
Volume
7
Issue
1
Pages
e1001
Language
eng
Type
Article
This Version
VoR
Physical Medium
Electronic-eCollection
Metadata
Show full item recordCitation
Verstockt, B., Smith, K., & Lee, J. (2018). Genome-wide association studies in Crohn's disease: Past, present and future.. Clinical & translational immunology, 7 (1), e1001. https://doi.org/10.1002/cti2.1001
Abstract
Over the course of the past decade, genome-wide association studies (GWAS) have revolutionised our understanding of complex disease genetics. One of the diseases that has benefitted most from this technology has been Crohn͛s disease (CD), with the identification of autophagy, the IL-17/IL-23 axis and innate lymphoid cells as key players in CD pathogenesis. Our increasing understanding of the genetic architecture of CD has also highlighted how a failure to suppress aberrant immune responses may contribute to disease development –a realisation that is now being incorporated into the design of new treatments. However, despite these successes, a significant proportion of disease heritability remains unexplained. Similarly, most of the causal variants at associated loci have not yet been identified, and even fewer have been functionally characterised. Because of the inarguable rise in the incidence of CD in regions of the world that previously had low disease rates, GWAS studies will soon have to shift from a largely Caucasian focus to include populations from other ethnic backgrounds. Future studies should also move beyond conventional studies of disease susceptibility into phenotypically-driven ͚within-cases͛analyses in order to explore the role of genetics in other important aspects of disease biology. These studies are likely to include assessments of prognosis and/or response to treatments, and may be critical if personalised medicine is ever to become a reality.
Sponsorship
WELLCOME TRUST (105920/Z/14/Z)
Embargo Lift Date
2100-01-01
Identifiers
External DOI: https://doi.org/10.1002/cti2.1001
This record's URL: https://www.repository.cam.ac.uk/handle/1810/273161
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