The University of Southampton
University of Southampton Institutional Repository
Warning ePrints Soton is experiencing an issue with some file downloads not being available. We are working hard to fix this. Please bear with us.

Immuno-genomic profiling of patients with inflammatory bowel disease

Immuno-genomic profiling of patients with inflammatory bowel disease
Immuno-genomic profiling of patients with inflammatory bowel disease
Background
Over the last 2 decades, there has been an ever-expanding catalog of genetic variants implicated in inflammatory bowel disease (IBD) through genome-wide association studies and next generation sequencing. In this article, we highlight the remarkable developments in understanding the genetic and immunological basis of IBD. The main objective of the study was to perform a systematic review of published literature detailing functional/immunological studies in patients known to harbor genetic variations in the implicated genes.

Methods
A panel of 71 candidate genes implicated in IBD was prioritized using 5 network connectivity in silico methods. An electronic search using MEDLINE and EMBASE from 1996 to February 2014 for each of the selected genes was conducted. Only studies describing genotyped IBD cohorts with concurrent in vivo functional studies were included.

Results
Between the reviewers, a total of 35,142 potentially eligible publications were identified. Only 8 genes had publications meeting the inclusion criteria. A total of 67 studies were identified across the selected genes. The NOD2 gene had the most number with 41 studies followed by IL-10 with 11 eligible studies. A meta-analysis was not practical given the heterogeneity of the study design and the number of implicated genes with diverse immunological and physiological functions.

Conclusions
There is a clear lack of functional studies in humans to assess the in vivo impact of the various genetic variants implicated. A collaborative approach merging genomics and functional studies will help to unravel the obscure mechanisms involved in IBD.
1813-1819
Coelho, Tracy
a78b627c-ea78-41e1-9553-0390921e3c93
Andreoletti, Gaia
75cfc74e-f938-48c8-b3d5-5b377297d008
Ashton, James J.
03369017-99b5-40ae-9a43-14c98516f37d
Pengelly, Reuben
af97c0c1-b568-415c-9f59-1823b65be76d
Gao, Yifang
eea234ba-f566-4f21-a65e-234b84cba285
RamaKrishnan, Ananth
c80a34d5-01e8-43fb-800b-3182e62cf529
Batra, Akshay
822f891e-87ca-41d9-b68d-27c395e88809
Beattie, Robert M.
9a66af0b-f81c-485c-b01d-519403f0038a
Williams, Anthony P.
973ff46f-46f1-4d7c-b27d-0f53221e4c44
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Coelho, Tracy
a78b627c-ea78-41e1-9553-0390921e3c93
Andreoletti, Gaia
75cfc74e-f938-48c8-b3d5-5b377297d008
Ashton, James J.
03369017-99b5-40ae-9a43-14c98516f37d
Pengelly, Reuben
af97c0c1-b568-415c-9f59-1823b65be76d
Gao, Yifang
eea234ba-f566-4f21-a65e-234b84cba285
RamaKrishnan, Ananth
c80a34d5-01e8-43fb-800b-3182e62cf529
Batra, Akshay
822f891e-87ca-41d9-b68d-27c395e88809
Beattie, Robert M.
9a66af0b-f81c-485c-b01d-519403f0038a
Williams, Anthony P.
973ff46f-46f1-4d7c-b27d-0f53221e4c44
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9

Coelho, Tracy, Andreoletti, Gaia, Ashton, James J., Pengelly, Reuben, Gao, Yifang, RamaKrishnan, Ananth, Batra, Akshay, Beattie, Robert M., Williams, Anthony P. and Ennis, Sarah (2014) Immuno-genomic profiling of patients with inflammatory bowel disease. Inflammatory Bowel Diseases, 20 (10), 1813-1819. (doi:10.1097/MIB.0000000000000174).

Record type: Article

Abstract

Background
Over the last 2 decades, there has been an ever-expanding catalog of genetic variants implicated in inflammatory bowel disease (IBD) through genome-wide association studies and next generation sequencing. In this article, we highlight the remarkable developments in understanding the genetic and immunological basis of IBD. The main objective of the study was to perform a systematic review of published literature detailing functional/immunological studies in patients known to harbor genetic variations in the implicated genes.

Methods
A panel of 71 candidate genes implicated in IBD was prioritized using 5 network connectivity in silico methods. An electronic search using MEDLINE and EMBASE from 1996 to February 2014 for each of the selected genes was conducted. Only studies describing genotyped IBD cohorts with concurrent in vivo functional studies were included.

Results
Between the reviewers, a total of 35,142 potentially eligible publications were identified. Only 8 genes had publications meeting the inclusion criteria. A total of 67 studies were identified across the selected genes. The NOD2 gene had the most number with 41 studies followed by IL-10 with 11 eligible studies. A meta-analysis was not practical given the heterogeneity of the study design and the number of implicated genes with diverse immunological and physiological functions.

Conclusions
There is a clear lack of functional studies in humans to assess the in vivo impact of the various genetic variants implicated. A collaborative approach merging genomics and functional studies will help to unravel the obscure mechanisms involved in IBD.

This record has no associated files available for download.

More information

Accepted/In Press date: 3 July 2014
e-pub ahead of print date: 28 August 2014
Published date: October 2014
Organisations: Cancer Sciences, Human Development & Health

Identifiers

Local EPrints ID: 368515
URI: http://eprints.soton.ac.uk/id/eprint/368515
PURE UUID: 3f3a01b7-6487-48e8-9232-9cb2d1ebcfbf
ORCID for Reuben Pengelly: ORCID iD orcid.org/0000-0001-7022-645X
ORCID for Sarah Ennis: ORCID iD orcid.org/0000-0003-2648-0869

Catalogue record

Date deposited: 09 Sep 2014 13:15
Last modified: 09 Nov 2021 03:30

Export record

Altmetrics

Contributors

Author: Tracy Coelho
Author: Gaia Andreoletti
Author: James J. Ashton
Author: Reuben Pengelly ORCID iD
Author: Yifang Gao
Author: Ananth RamaKrishnan
Author: Akshay Batra
Author: Robert M. Beattie
Author: Sarah Ennis ORCID iD

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×