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Submitted on September 20, 2006
Accepted on November 29, 2006
Department of Medicine, Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, Birmingham, B15 2TT, UK; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK
* To whom correspondence should be addressed. E-mail: j.m.king{at}bham.ac.uk.
CONTEXT: A recent study reported associations of a series of single nucleotide polymorphisms (SNPs) within PTPN22 (including rs2476601) with rheumatoid arthritis (RA).
OBJECTIVE: Having previously reported significant association of the T allele of rs2476601 in a Graves' disease (GD) cohort, we sought to determine whether novel RA associated SNPs were also contributing to susceptibility to GD.
DESIGN: Case control and family based studies of five PTPN22 tag SNPs.
SETTING: UK Academic Department of Medicine
PATIENTS OR OTHER PARTICIPANTS: - 768 GD patients, 768 control subjects and 313 families with autoimmune thyroid disease (AITD).
INTERVENTIONS: N/A
MAIN OUTCOME MEASURES: Tests for association with disease.
RESULTS: No association with disease of any of the individual SNPs and no correlation between genotype and clinical phenotype was seen. Haplotype analysis of the SNP markers with addition of rs2476601 did however, reveal strong association of a haplotype containing the T allele, in both the case control (
2 = 29.13; P = 6.77 x 10-8) and family datasets (2 = 5.24; P = 0.02). Furthermore, a novel protective effect of a haplotype containing all six SNPs was observed (2 = 17.02; P = 3.7 x 10-5).
CONCLUSION: These data suggest that the association of SNPs within the PTPN22 region differs between autoimmune diseases, occurring either individually and/or as part of a haplotype, indicating that the mechanisms by which PTPN22 confers susceptibility to GD may, in part, be disease specific.
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