格雷夫斯病的遗传学基础。
The genetic basis of graves' disease.
机构信息
Department of Medical Genetics, Centre for Biostructure, Medical University of Warsaw, Poland.
出版信息
Curr Genomics. 2011 Dec;12(8):542-63. doi: 10.2174/138920211798120772.
Abstract
The presented comprehensive review of current knowledge about genetic factors predisposing to Graves' disease (GD) put emphasis on functional significance of observed associations. In particular, we discuss recent efforts aimed at refining diseases associations found within the HLA complex and implicating HLA class I as well as HLA-DPB1 loci. We summarize data regarding non-HLA genes such as PTPN22, CTLA4, CD40, TSHR and TG which have been extensively studied in respect to their role in GD. We review recent findings implicating variants of FCRL3 (gene for FC receptor-like-3 protein), SCGB3A2 (gene for secretory uteroglobin-related protein 1- UGRP1) as well as other unverified possible candidate genes for GD selected through their documented association with type 1 diabetes mellitus: Tenr-IL2-IL21, CAPSL (encoding calcyphosine-like protein), IFIH1(gene for interferon-induced helicase C domain 1), AFF3, CD226 and PTPN2. We also review reports on association of skewed X chromosome inactivation and fetal microchimerism with GD. Finally we discuss issues of genotype-phenotype correlations in GD.
摘要
本文对导致格雷夫斯病（GD）的遗传因素的现有知识进行了全面回顾，重点强调了观察到的相关性的功能意义。特别是，我们讨论了最近在 HLA 复合物内发现的疾病相关性，并阐明了 HLA Ⅰ类和 HLA-DPB1 基因座的作用。我们总结了关于非 HLA 基因的信息，如 PTPN22、CTLA4、CD40、TSHR 和 TG，这些基因在 GD 中的作用已经得到了广泛研究。我们回顾了最近的发现，这些发现表明 FCRL3（FC 受体样蛋白 3 基因）、SCGB3A2（分泌尿促球蛋白相关蛋白 1-UGRP1 基因）以及其他通过与 1 型糖尿病的关联而被选为 GD 可能候选基因的变体的作用：Tenr-IL2-IL21、CAPSL（编码钙磷蛋白样蛋白）、IFIH1（干扰素诱导的螺旋酶 C 结构域 1 基因）、AFF3、CD226 和 PTPN2。我们还回顾了关于 X 染色体失活偏斜和胎儿微嵌合与 GD 关联的报告。最后，我们讨论了 GD 中基因型-表型相关性的问题。
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