Association of a C/T Single-Nucleotide Polymorphism in the 5' Untranslated Region of the CD40 Gene with Graves' Disease in Japanese
| Autor: | Matsuo Taniyama, Yoshio Ban, Teruaki Tozaki, Motowo Tomita, Yoshiyuki Ban |
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| Rok vydání: | 2006 |
| Předmět: |
Genotype
Five prime untranslated region Endocrinology Diabetes and Metabolism Graves' disease Single-nucleotide polymorphism Context (language use) Hashimoto Disease Disease Biology Polymorphism Single Nucleotide Endocrinology Asian People Japan medicine Humans Genetic Predisposition to Disease CD40 Antigens Gene Alleles Genetics Polymorphism Genetic CD40 Thyroiditis Autoimmune Chromosome medicine.disease Molecular biology Graves Disease Case-Control Studies biology.protein 5' Untranslated Regions |
| Zdroj: | Thyroid. 16:443-446 |
| ISSN: | 1557-9077 1050-7256 |
| DOI: | 10.1089/thy.2006.16.443 |
| Popis: | 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.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.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.Frequencies of genotypes and alleles of the CD40- E1SNP.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.These results suggested that the CD40 gene is involved in susceptibility for GD in the Japanese. |
| Databáze: | OpenAIRE |
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