Skip to main content

The development of genome-wide association studies and their application to complex diseases, including lupus

Bentham, James, Vyse, T.J. (2013) The development of genome-wide association studies and their application to complex diseases, including lupus. Lupus, 22 (12). pp. 1205-1213. ISSN 0961-2033. E-ISSN 1477-0962. (doi:10.1177/0961203313492870) (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided)

The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided. (Contact us about this Publication)
Official URL
https://doi.org/10.1177/0961203313492870

Abstract

In this review, we explain the motivation for carrying out genome-wide association studies (GWAS), contrasting the achievements of linkage-based experiments for Mendelian traits with the difficulties found when applying that type of experiment to complex diseases. We explain the technical and organizational developments that were required to make GWAS feasible, as well as some of the theoretical concerns that were raised during the design of these studies. We describe the impressive achievements of GWAS in lupus, and compare them with the experiences in three other genetically complex disorders: rheumatoid arthritis, type 1 diabetes and coronary heart disease. GWAS have been successful in identifying many new susceptibility loci for these four diseases, and have provided the motivation for novel immunological work. We conclude by describing preliminary steps that have been taken towards translating the results of GWAS into improvements in patient care, explaining some of the difficulties involved, as well as successes that have already been achieved.

Item Type: Article
DOI/Identification number: 10.1177/0961203313492870
Subjects: Q Science
Divisions: Faculties > Sciences > School of Mathematics Statistics and Actuarial Science
Faculties > Sciences > School of Mathematics Statistics and Actuarial Science > Statistics
Depositing User: James Bentham
Date Deposited: 15 Nov 2017 13:50 UTC
Last Modified: 29 May 2019 19:49 UTC
Resource URI: https://kar.kent.ac.uk/id/eprint/64440 (The current URI for this page, for reference purposes)
Bentham, James: https://orcid.org/0000-0001-5733-9417
  • Depositors only (login required):