title: Meta-genetic association of rheumatoid arthritis and PTPN22 using PedGenie 2.1.
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.
authors.affiliation: Division of Genetic Epidemiology, Department of Biomedical Informatics, University of Utah School of Medicine, 391 South Chipeta Way, Suite D, Salt Lake City, Utah 84108-1206, USA. karen.curtin@hsc.utah.edu
authors.forename: Karen
authors.initials: K
authors.lastname: Curtin
authors.forename: Jathine
authors.initials: J
authors.lastname: Wong
authors.forename: Kristina
authors.initials: K
authors.lastname: Allen-Brady
authors.forename: Nicola J
authors.initials: NJ
authors.lastname: Camp