Association of PTPN22 Haplotypes with Graves’ Disease

Context: A recent study reported associations of a series of single nucleotide polymorphisms ( SNPs) within PTPN22, including rs2476601, with rheumatoid arthritis. Objective: Having previously reported significant association of the T allele of rs2476601 in a Graves’ disease(GD) cohort, we sought to determine whether novel rheumatoid arthritis-associated SNPswere also contributing to susceptibility to GD. Design: Case control and family-based studies of five PTPN22 tag SNPswere performed. Setting: An United Kingdom academic departmentof medicine was the setting for the study. Patients or Other Participants: A total of 768 GD patients, 768 control subjects, and 313 families with autoimmune thyroiddisease participated. Main Outcome Measure: Tests for association with disease were the main outcome measure. Results: No association with disease of any of the individual SNPsand no correlation between genotype and clinical phenotype were seen. However, haplotype analysis of the SNPmarkers with addition of ...