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Published in: BMC Proceedings 7/2009

Open Access 01-12-2009 | Proceedings

Replication of recently identified associated single-nucleotide polymorphisms from six autoimmune diseases in Genetic Analysis Workshop 16 rheumatoid arthritis data

Authors: Harshal Deshmukh, Xana Kim-Howard, Swapan K Nath

Published in: BMC Proceedings | Special Issue 7/2009

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Abstract

Many autoimmune diseases share similar underlying pathology and have a tendency to cluster within families, giving rise to the concept of shared susceptibility genes among them. In the Genetic Analysis Workshop 16 rheumatoid arthritis (RA) data we sought to replicate the genetic association between single-nucleotide polymorphisms (SNPs) identified in recent genome-wide association studies (GWAS) on RA and five other autoimmune diseases. We identified 164 significantly associated non-HLA SNPs (p < 10-5) from 16 GWAS and 13 candidate gene studies on six different autoimmune diseases, including RA, systemic lupus erythematosus, type 1 diabetes, Crohn disease, multiple sclerosis, and celiac disease. Using both direct and imputation-based association test, we replicated 16 shared susceptibility regions involving RA and at least one of the other autoimmune diseases. We also identified hidden population structure within cases and controls in Genetic Analysis Workshop 16 RA data and assessed the effect of population structure on the shared autoimmunity regions. Because multiple autoimmune diseases share common genetic origin, these could be areas of immense interest for further genetic and clinical association studies.
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Metadata
Title
Replication of recently identified associated single-nucleotide polymorphisms from six autoimmune diseases in Genetic Analysis Workshop 16 rheumatoid arthritis data
Authors
Harshal Deshmukh
Xana Kim-Howard
Swapan K Nath
Publication date
01-12-2009
Publisher
BioMed Central
Published in
BMC Proceedings / Issue Special Issue 7/2009
Electronic ISSN: 1753-6561
DOI
https://doi.org/10.1186/1753-6561-3-S7-S31

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