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No Association Between Variation of the FOXP3 Gene and Common Type 1 Diabetes in the Sardinian Population

¹ Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Ospedale Microcitemico, Cagliari, Italy
² Servizio di Diabetologia Pediatrica, Ospedale G. Brotzu, Cagliari, Italy
³ Istituto di Clinica Medica, Servizio di Diabetologia, Universita’ di Sassari, Sassari, Italy
⁴ Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke’s Hospital, Cambridge, U.K
⁵ Centro di Genetica Clinica, Dipartimento di Scienze Biomediche, Universita’ di Sassari, Sassari, Italy

Mutations of the forkhead/winged helix transcription factor FOXP3 gene on chromosome Xp11.23 cause a rare recessive monogenic disorder called IPEX (immune dysregulation, polyendocrinopathy, including type 1 diabetes, enteropathy, and X-linked syndrome). FOXP3 is necessary for the differentiation of a key immune suppressive subset of T-cells, the CD4+CD25+ regulatory T-cells. Previously, we reported a significant male-female bias in the common, multifactorial form of type 1 diabetes in Sardinia and evidence of linkage of chromosome Xp11 to the disease. These findings indicate that FOXP3 is a prime functional and positional candidate locus for the common form of type 1 diabetes. In the present study, we initially scanned 82 kb of the FOXP3 region for common polymorphisms, including sequencing all of the coding and functionally relevant portions of the gene in 64 Sardinian individuals. Then the most informative polymorphisms in 418 type 1 diabetic families and in 268 male case and 326 male control subjects were sequentially genotyped and tested for disease association. There is no evidence that variants in the FOXP3 regions analyzed are associated with type 1 diabetes and account for the male-female bias observed in Sardinia. Our data indicate that allelic variation in or near the coding regions of the FOXP3 gene does not have a major role in the inherited susceptibility to the common form of type 1 diabetes.

Abbreviations: AFBAXPAT, affected family–based X-chromosome paternal association test; FOX, forkhead/winged helix transcription factor; SNP, single nucleotide polymorphism; TPOA, autoantibody to thyroid peroxidase

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