甲状腺相关眼病与相关基因多态性研究进展

摘要

甲状腺相关眼病(TAO)被普遍认为是一种自身免疫性疾病,其发病机制尚不清楚,目前仍缺少确实可行的治疗方案.近几年的研究发现,TAO是一种多基因遗传病,其发生与遗传因素有关,是遗传因素和环境因素共同作用的结果.就目前与TAO遗传易感性有关的特异基因,如细胞因子(CK)相关基因、人类白细胞DR抗原(HLA-DR)基因、尿苷二磷酸葡萄糖脱氢酶基因(UGDP)、重组人甲状旁腺素基因(PTHLH)、人β防御素-2基因(HBD-2)、细胞毒性T淋巴细胞相关基因-4(CTLA4)、细胞表面分化抗原簇CD86和CD103基因、心隐钙素-2基因(CASQ-2)、Toll样受体-9基因(TLR-9)、氧化物酶体增生因子活化受体-γ2基因(PPAR-γ2)、透明质酸合成酶基因(HAS)和透明质酸酶基因(HYAL),归纳出各类基因与TAO的对应关联,以便更系统、全面地了解TAO基因多态性方面的研究进展.%Thyroid-associated ophthalmopathy (TAO) is an autoimmune disease,and the pathogenesis of TAO is still unclear at present,so it is difficult to take proper prevention and treatment.TAO is a polygenic disease,it is a result of both genetic and environmental factors.Now a large number of researchers showed genetic predisposition of TAO,such as associated genes about cytokine (CK),human leukocyte antigen DR gene (HLA-DR),uridine diphosphate glucose phosphate dehydrogenase gene (UGDH),parathyroid hormone-like hormone gene (PTHLH),human beta defensin-2 gene (HBD-2),cytotoxic T lymphocyte associated antigen-4 gene (CTLA4),cluster of defferentiation 86 gene (CD86) and CD103 gene,cardiac calsequestrin-2 gene (CASQ-2),Toll-like receptor-9 gene (TLR-9),peroxisome proliferation factor receptorγ activation gene (PPAR-γ2),hyaluronan synthase gene (HAS),hyaluronidase gene (HYAL),etc.This review summarizes the corresponding associations respectively based on specific genetic research,so as to have a system understanding to TAO susceptibility genes.