Brix T H, Kyvik K O, Hegedüs L
Department of Endocrinology M, Odense University Hospital, Odense C, Denmark.
Thyroid. 1998 Jul;8(7):627-34. doi: 10.1089/thy.1998.8.627.
Graves' disease (GD) is generally thought of as a multifactorial disorder in which genetic susceptibility interacts with environmental and endogenous factors to cause disease. The importance of genetic factors is suggested by the clustering of GD within families and by a higher concordance rate for disease in monozygotic than in dizygotic twins. This has, however, recently been shown to be less pronounced than previously thought. During the last decade much effort has been put into characterization of the genetic background of GD. Until recently, most studies have examined associations between GD and the human leukocyte antigen (HLA) region, but recent advances in molecular techniques have opened the way for whole genome screening. A number of HLA and non-HLA candidate genes have been proposed, but despite several large investigations within multiplex families no major susceptibility genes have been identified. This brief review discusses relevant articles published from 1940 through 1997 regarding the influence of genetic factors in the etiology of GD. Ongoing studies focus on whole genome screening in multiplex families as well as population-based twin studies. However, the possibility of GD being a heterogeneous disease without a single well-defined genotype and phenotype should be left open.
格雷夫斯病（GD）通常被认为是一种多因素疾病，其中遗传易感性与环境和内源性因素相互作用导致疾病。家族性GD的聚集以及单卵双胞胎比双卵双胞胎更高的疾病一致性率表明了遗传因素的重要性。然而，最近发现这种情况并不像之前认为的那么明显。在过去十年中，人们投入了大量精力来表征GD的遗传背景。直到最近，大多数研究都考察了GD与人类白细胞抗原（HLA）区域之间的关联，但分子技术的最新进展为全基因组筛查开辟了道路。已经提出了一些HLA和非HLA候选基因，但尽管在多个家庭中进行了几项大型研究，仍未确定主要的易感基因。这篇简短的综述讨论了1940年至1997年发表的关于遗传因素在GD病因学中影响的相关文章。正在进行的研究集中在对多个家庭的全基因组筛查以及基于人群的双胞胎研究。然而，GD可能是一种没有单一明确基因型和表型的异质性疾病，这种可能性应该保留。
