Identification of novel putative rheumatoid arthritis susceptibility genes via analysis of rare variants

Established loci for rheumatoid arthritis (RA), including HLA-DRB1 and PTPN22, do not fully account for the genetic component of susceptibility to the disease. One possible source of as yet undiscovered susceptibility genes are those mediated through effects of rare variants. We present a novel meth...

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Detalles Bibliográficos
Autores principales: Morris, Andrew P, Zeggini, Eleftheria, Lindgren, Cecilia M
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Proceedings
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2795905/
https://www.ncbi.nlm.nih.gov/pubmed/20017998
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author Morris, Andrew P
Zeggini, Eleftheria
Lindgren, Cecilia M
author_facet Morris, Andrew P
Zeggini, Eleftheria
Lindgren, Cecilia M
author_sort Morris, Andrew P
collection PubMed
description Established loci for rheumatoid arthritis (RA), including HLA-DRB1 and PTPN22, do not fully account for the genetic component of susceptibility to the disease. One possible source of as yet undiscovered susceptibility genes are those mediated through effects of rare variants. We present a novel method for gene-based genome-wide scans of whole-genome association (WGA) data to identify accumulations of rare variants associated with disease. We apply our method to WGA SNP genotype data obtained from 868 RA cases and 1194 controls. Our results highlight novel putative RA susceptibility genes that have not previously been identified in large-scale WGA studies.
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spelling pubmed-27959052009-12-18 Identification of novel putative rheumatoid arthritis susceptibility genes via analysis of rare variants Morris, Andrew P Zeggini, Eleftheria Lindgren, Cecilia M BMC Proc Proceedings Established loci for rheumatoid arthritis (RA), including HLA-DRB1 and PTPN22, do not fully account for the genetic component of susceptibility to the disease. One possible source of as yet undiscovered susceptibility genes are those mediated through effects of rare variants. We present a novel method for gene-based genome-wide scans of whole-genome association (WGA) data to identify accumulations of rare variants associated with disease. We apply our method to WGA SNP genotype data obtained from 868 RA cases and 1194 controls. Our results highlight novel putative RA susceptibility genes that have not previously been identified in large-scale WGA studies. BioMed Central 2009-12-15 /pmc/articles/PMC2795905/ /pubmed/20017998 Text en Copyright ©2009 Morris et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Proceedings
Morris, Andrew P
Zeggini, Eleftheria
Lindgren, Cecilia M
Identification of novel putative rheumatoid arthritis susceptibility genes via analysis of rare variants
title Identification of novel putative rheumatoid arthritis susceptibility genes via analysis of rare variants
title_full Identification of novel putative rheumatoid arthritis susceptibility genes via analysis of rare variants
title_fullStr Identification of novel putative rheumatoid arthritis susceptibility genes via analysis of rare variants
title_full_unstemmed Identification of novel putative rheumatoid arthritis susceptibility genes via analysis of rare variants
title_short Identification of novel putative rheumatoid arthritis susceptibility genes via analysis of rare variants
title_sort identification of novel putative rheumatoid arthritis susceptibility genes via analysis of rare variants
topic Proceedings
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2795905/
https://www.ncbi.nlm.nih.gov/pubmed/20017998
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