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. 2007;1 Suppl 1(Suppl 1):S12.
doi: 10.1186/1753-6561-1-s1-s12. Epub 2007 Dec 18.

Meta-genetic association of rheumatoid arthritis and PTPN22 using PedGenie 2.1

Karen Curtin  1 , Jathine Wong, Kristina Allen-Brady, Nicola J Camp
Affiliations

Meta-genetic association of rheumatoid arthritis and PTPN22 using PedGenie 2.1

Karen Curtin et al. BMC Proc. 2007.

Abstract

PedGenie beta version 2.1 is a unique, flexible, and easily implemented analysis software tool that is enhanced significantly by incorporation of meta-statistics to allow valid combined analysis of multiple studies, including mixtures of family-based and independent resources, in the detection of genetic association with common disease. Genetic Analysis Workshop 15 Problem 2 data, provided by the North American Rheumatoid Arthritis Consortium, were used to demonstrate PedGenie 2.1 meta-association testing of variants in the PTPN22 gene and rheumatoid arthritis across multiple resources containing both family-based and independent individuals. Our findings are generally consistent with previous reports for a panel of 14 single-nucleotide polymorphism (SNP) markers, including functional coding SNP R620W, in which the minor allele conferred a significant two-fold increased risk. More power to detect associations was achieved in certain analyses by using extra family-based samples, rather than restricting analyses to single cases randomly selected from each pedigree.

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