title: Sex-specific association of the human PTPN22 1858T-allele with type 1 diabetes.
abstract: Type 1 diabetes (T1D) is a common organ-specific autoimmune disease of complex aetiology, involving the interaction of a large number of disease-associated genes. By comparison of a Danish population sample of 253 Caucasian children and adolescents with T1D and a control group consisted of 354 unrelated healthy blood donors, the present study provides evidence of an isolated association of the disease-associated PTPN22 1858T-allele with T1D to the female sex. Furthermore, the present data suggest that PTPN22 genotypes affect the age of onset in a sex-specific manner. The increased frequency of the risk allele and its association with age at onset in female T1D children and adolescents indicates that the genetic contribution to disease pathogenesis is more prominent in females in this population of Danish patients.
authors.affiliation: Department of Clinical Immunology, Odense University Hospital, Odense, Denmark. christian.nielsen@ouh.fyns-amt.dk
authors.forename: C
authors.initials: C
authors.lastname: Nielsen
authors.forename: D
authors.initials: D
authors.lastname: Hansen
authors.forename: S
authors.initials: S
authors.lastname: Husby
authors.forename: S T
authors.initials: ST
authors.lastname: Lillevang
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000097:blood / Q000235:genetics*; D012727:Sex Characteristics
chemical_list: C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22