Association of a C/T single-nucleotide polymorphism in the 5' untranslated region of the CD40 gene with Graves' disease in Japanese.
BACKGROUND
Graves' disease (GD) is caused by an interplay of genetic factors and environmental triggers. Recently, a susceptibility locus for GD was mapped to chromosome 20q11 (GD-2). Furthermore, a novel single nucleotide polymorphism (SNP) in the CD40 gene, which is located in 20q11, was found to be associated and linked with GD in Caucasians and in Koreans.


OBJECTIVE
To examine a C/T SNP in the 5' untranslated region of the CD40 gene (CD40-E1SNP) for association with autoimmune thyroid diseases (AITDs) in a Japanese dataset.


METHODS
Case-control association studies were performed using the CD40-E1SNP. We studied 485 Japanese patients with AITD (301 with GD, 184 with Hashimoto's thyroiditis [HT]) and 177 matched Japanese control subjects in association studies.


RESULTS
Frequencies of genotypes and alleles of the CD40- E1SNP.


RESULTS
The distribution of genotype frequencies differed significantly between patients with GD and controls in a dominant manner (p = 0.039). The CC+CT genotypes of the CD40-E1SNP were associated with the increased risk for GD (p = 0.015, odds ratio [OR] = 1.9). In contrast, no differences in genotype frequencies were observed between HT patients and controls for the CD40-E1SNP.


CONCLUSIONS
These results suggested that the CD40 gene is involved in susceptibility for GD in the Japanese.
Ban
Yoshiyuki
Y
Third Department of Internal Medicine, Showa University School of Medicine, Tokyo, Japan. yshyban@aol.com
Tozaki
Teruaki
T
Taniyama
Matsuo
M
Tomita
Motowo
M
Ban
Yoshio
Y
D020121:5' Untranslated Regions; D000483:Alleles; D044466:Asian People; D019013:CD40 Antigens / Q000096:biosynthesis* / Q000235:genetics*; D016022:Case-Control Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006111:Graves Disease / Q000235:genetics*; D050031:Hashimoto Disease / Q000235:genetics; D006801:Humans; D007564:Japan; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D013967:Thyroiditis, Autoimmune / Q000235:genetics
D020121:5' Untranslated Regions; D019013:CD40 Antigens