Fine mapping of genes within the IDDM8 region in rheumatoid arthritis.docVIP

Available online /content/8/5/R145 Research article Open Access Vol 8 No 5 Fine mapping of genes within the IDDM8 region in rheumatoid arthritis Anne Hinks, Anne Barton, Sally John, Neil Shephard and Jane Worthington Arthritis Research Campaign Epidemiology Unit, University of Manchester, Manchester M13 9PT, UK Corresponding author: Anne Hinks, Anne.Hinks@manchester.ac.uk Received: 26 Apr 2006 Revisions requested: 23 May 2006 Revisions received: 22 Aug 2006 Accepted: 31 Aug 2006 Published: 31 Aug 2006 Arthritis Research Therapy 2006, 8:R145 (doi:10.1186/ar2037) This article is online at: /content/8/5/R145 ? 2006 Hinks et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract The IDDM8 region on chromosome 6q27, first identified as a susceptibility locus for type 1 diabetes, has previously been linked and associated with rheumatoid arthritis (RA). The region contains a number of potential candidate genes, including programmed cell death 2 (PDCD2), the proteosome subunit beta type 1 (PSMB1), delta-like ligand 1 (DLL-1) and TATA box- binding protein (TBP) amongst others. The aim of this study was to fine map the IDDM8 region on chromosome 6q27, focusing on the genes in the region, to identify polymorphisms that may contribute to susceptibility to RA and potentially to other in two datasets; the test dataset comprised 180 RA cases and 180 controls. We tested 50 SNPs for association with RA and any significant associations were genotyped in a second dataset of 174 RA cases and 192 controls, and the datasets were combined before analysis. Association analysis was performed by chi-square test implemented in Stata software and linkage disequilibrium and haplotype analysi