Ban Y, Taniyama M, Tozaki T, Tomita M, Ban Y
Third Department of Internal Medicine, Showa University School of Medicine, Tokyo, Japan.
BMC Med Genet. 2000;1:1. doi: 10.1186/1471-2350-1-1. Epub 2000 Nov 23.
The autoimmune thyroid diseases (AITDs), comprising Graves' disease (GD) and Hashimoto's thyroiditis (HT), appear to develop as a result of complex interactions between predisposing genes and environmental triggers. Susceptibility to AITDs is conferred by genes in the human leukocyte antigen (HLA) and genes unlinked to HLA, including the CTLA-4 gene. Recently, an association to some estrogen receptor (ER)alpha genotypes with breast cancer, hypertension, osteoporosis, generalized osteoarthritis, and some autoimmune diseases such as rheumatoid arthritis has been reported. We have analyzed a dinucleotide (TA)n repeat polymorphism lying upstream of the human ERalpha gene in patients with AITDs and in normal subjects.
Seventeen different alleles were found in 130 patients with GD, 93 patients with HT, and 190 control subjects. There was no significant difference in the distributions of ERalpha alleles between patients and controls.
The present results do not support an association between the ERalpha gene and AITD in the Japanese population.
自身免疫性甲状腺疾病（AITDs）包括格雷夫斯病（GD）和桥本甲状腺炎（HT），似乎是由易感基因与环境触发因素之间的复杂相互作用而引发的。人类白细胞抗原（HLA）基因以及与HLA不连锁的基因（包括CTLA - 4基因）赋予了对AITDs的易感性。最近，有报道称某些雌激素受体（ER）α基因型与乳腺癌、高血压、骨质疏松症、全身性骨关节炎以及一些自身免疫性疾病（如类风湿性关节炎）有关联。我们分析了AITDs患者和正常受试者中人类ERα基因上游的二核苷酸（TA）n重复多态性。
在130例GD患者、93例HT患者和190例对照受试者中发现了17种不同的等位基因。患者和对照之间ERα等位基因的分布没有显著差异。
目前的结果不支持日本人群中ERα基因与AITD之间存在关联。
