publication . Article . Conference object . 2009

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

Morris, Andrew P; Zeggini, Eleftheria; Lindgren, Cecilia M;
Open Access
  • Published: 01 Dec 2009 Journal: BMC Proceedings, volume 3 (eissn: 1753-6561, Copyright policy)
  • Publisher: Springer Nature
  • Country: United Kingdom
<p>Abstract</p> <p>Established loci for rheumatoid arthritis (RA), including <it>HLA-DRB1 </it>and <it>PTPN22</it>, 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 identifi...
free text keywords: General Biochemistry, Genetics and Molecular Biology, General Medicine, Genetics, Bioinformatics, PTPN22, Rheumatoid arthritis, medicine.disease, medicine, Gene, Disease, SNP, Genotype, business.industry, business, Locus (genetics), R, Science, Q, Proceedings
Funded by
NIH| Genetic Analysis of Common Diseases: An Evaluation
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01GM031575-22
  • Funder: Wellcome Trust (WT)

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A Deep Catalog of Human Genetic Variation.

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