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Genetic association studies of the FOXP3 gene in Graves' disease and autoimmune Addison's disease in the United Kingdom population

Lookup NU author(s): Dr Kate Owen, James Eden, Dr Claire Jennings, Dr Valerie Wilson, Professor Timothy Cheetham, Professor Simon PearceORCiD


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Regulatory T lymphocytes play a crucial role in modulating potentially self-reactive clones, and dysfunction of this cell type contributes to autoimmune disease. FOXP3 is a critical determinant of CD4+ CD25+T regulatory (Treg) cell development and function. The aim of this study was to investigate whether genetic polymorphisms at the FOXP3 locus predispose to autoimmune endocrinopathies. Five single nucleotide polymorphisms (SNPS) and two microsatellite polymorphisms were genotyped in our Caucasian cohorts of 633 unrelated Graves' disease (GD) subjects, 104 autoimmune Addison's disease (AAD) subjects and 528 healthy controls. SNP genotyping was performed by either restriction enzyme digestion or by primer-extension-MALDI-TOF (matrix-assisted laser desorption/ionisation time-of-flight) assay. Microsatellites were analysed using fluorescent PCR. Case-control analysis was performed using χ2 testing on contingency tables for allele frequency. Haplotype analysis was performed using the UNPHASED package. No evidence for disease association was found with any of the seven polymorphisms in either of the GD or AAD subjects as compared with controls (P-0-26-0-94). Haplotype analysis found a weak evidence for the association of a minor haplotype with GD; this was not significant when corrected for multiple testing. This study has found no robust evidence that FOXP3 gene polymorphism contributes to the susceptibility to GD or AAD in the UK population. © 2006 Society for Endocrinology.

Publication metadata

Author(s): Owen CJ, Eden JA, Jennings CE, Wilson V, Cheetham TD, Pearce SHS

Publication type: Article

Publication status: Published

Journal: Journal of Molecular Endocrinology

Year: 2006

Volume: 37

Issue: 1

Pages: 97-104

ISSN (print): 0952-5041

ISSN (electronic): 1479-6813

Publisher: Society for Endocrinology


DOI: 10.1677/jme.1.02072


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Funder referenceFunder name
G84/5959Medical Research Council