title: A C/T polymorphism in the 5' untranslated region of the CD40 gene is associated with later onset of Graves' disease in Japanese.
abstract: Graves' disease (GD) is an autoimmune disorder with genetic predisposition. CD40, which stimulates lymphocyte proliferation and differentiation, is an important immunomodulator and is expressed in the thyroid follicular cells as well as antigen-presenting cells. A single nucleotide polymorphism (SNP) at position -1 of the Kozak sequence of the CD40 gene has been reported to be associated with the development of GD. The aim of the present study was to investigate whether CD40 gene polymorphism confers susceptibility to GD in Japanese. CD40 gene polymorphisms were studied in Japanese GD patients (n = 324) and healthy control subjects without anti-thyroid autoantibodies or a family history of autoimmune disorders (n = 229). A C/T polymorphism at position -1 of the CD40 gene was measured using the polymerase chain reaction restriction fragment length polymorphism. There was no significant difference in allele or genotype frequency of the CD40 SNP between GD and control subjects. There was a significant decrease in the TT genotype frequency in the GD patients, who developed GD after 40 years old, than those under 40 year of age. These data suggest that the SNP of CD40 gene is associated with susceptibility to later onset of GD in Japanese.
authors.affiliation: Department of Endocrinology and Metabolism, Kurume University School of Medicine, Kurume, Fukuoka.
authors.forename: Tokunori
authors.initials: T
authors.lastname: Mukai
authors.forename: Yuji
authors.initials: Y
authors.lastname: Hiromatsu
authors.forename: Tomoka
authors.initials: T
authors.lastname: Fukutani
authors.forename: Michiko
authors.initials: M
authors.lastname: Ichimura
authors.forename: Hiroo
authors.initials: H
authors.lastname: Kaku
authors.forename: Ikuyo
authors.initials: I
authors.lastname: Miyake
authors.forename: Kentaro
authors.initials: K
authors.lastname: Yamada
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D019013:CD40 Antigens / Q000235:genetics*; D002648:Child; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D005838:Genotype; D006111:Graves Disease / Q000208:ethnology* / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D020121:5' Untranslated Regions; D019013:CD40 Antigens