PTPN22 Genetic Variation: Evidence for Multiple Variants Associated with Rheumatoid Arthritis Victoria E.H. Carlton, Xiaolan Hu, Anand P. Chokkalingam, Steven J. Schrodi, Rhonda Brandon, Heather C. Alexander, Monica Chang, Joseph J. Catanese, Diane U. Leong, Kristin G. Ardlie, Daniel L. Kastner, Michael F. Seldin, Lindsey A. Criswell, Peter K. Gregersen, Ellen Beasley, Glenys Thomson, Christopher I. Amos, Ann B. Begovich The American Journal of Human Genetics Volume 77, Issue 4, Pages 567-581 (October 2005) DOI: 10.1086/468189 Copyright © 2005 The American Society of Human Genetics Terms and Conditions
Figure 1 Gene structure and LD of PTPN22. A, Location and functional domain types of the 37 SNPs genotyped in sample set 1. Missense variants are colored in red; the nonsense variant is colored in red and marked by an asterisk (*); putative TFBSs are colored in blue; and sites within the 5′ and 3′ UTRs are colored in green. B, Pairwise LD between 36 SNPs (excluding the rare nonsense SNP 9), as measured by r2 in 475 controls from sample set 1. The indexes of the SNPs (table 1) were arranged vertically from SNP 2 to SNP 37 and horizontally from SNP 1 to SNP 36. The American Journal of Human Genetics 2005 77, 567-581DOI: (10.1086/468189) Copyright © 2005 The American Society of Human Genetics Terms and Conditions