A C/T Polymorphism in the 5' Untranslated Region of the CD40 Gene Is Associated with Later Onset of Graves' Disease in Japanese

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...

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Bibliographic Details
Published in:Endocrine Journal 2005, Vol.52(4), pp.471-477
Main Authors: MUKAI, Tokunori, HIROMATSU, Yuji, FUKUTANI, Tomoka, ICHIMURA, Michiko, KAKU, Hiroo, MIYAKE, Ikuyo, YAMADA, Kentaro
Format: Article
Language:English
Subjects:
5' Untranslated Regions - genetics
Adolescent
Adult
Age of Onset
Aged
Aged, 80 and over
CD40
CD40 Antigens - genetics
Child
Female
Gene Frequency
Genetic Predisposition to Disease - ethnology
Genotype
Graves Disease - ethnology
Graves Disease - genetics
Graves' disease
Humans
Japan
Male
Middle Aged
Polymorphism
Polymorphism, Single Nucleotide
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Summary: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.
ISSN:0918-8959
1348-4540
DOI:10.1507/endocrj.52.471