家族性硬皮病的免疫遗传学研究。
An immunogenetic study of familial scleroderma.
作者信息
de Juan M D, Belzunegui J, Belmonte I, Barado J, Figueroa M, Cancio J, Vidal S, Cuadrado E
机构信息
Servicio de Inmunologia, Hospital Ntra Sra de Aránzazu, San Sebastián, Guipúzcoa, Spain.
出版信息
Ann Rheum Dis. 1994 Sep;53(9):614-7. doi: 10.1136/ard.53.9.614.
OBJECTIVE
To study the role of the HLA system in the genetic susceptibility to familial systemic sclerosis (SSc).
METHODS
HLA class I antigens were determined by classic serological methods and HLA-DRB, -DQA and -DQB genes were analysed by genetic typing in 36 individuals belonging to two families with several individuals affected by SSc.
RESULTS
The results did not show any association of the inheritance to SSc with any particular HLA allele in these families but revealed a striking frequency of ANA autoantibodies in healthy spouses of the members of these families.
CONCLUSION
The otherwise infrequent familial incidence of SSc does not appear to be primarily linked to the HLA system in this study but it is suggested that other unknown exogenous environmental factors could be implicated in the development of the disease in families.
目的
研究人类白细胞抗原（HLA）系统在家族性系统性硬化症（SSc）遗传易感性中的作用。
方法
采用经典血清学方法测定36名来自两个家族且有多名成员患SSc的个体的HLA I类抗原，并通过基因分型分析HLA-DRB、-DQA和-DQB基因。
结果
结果未显示这些家族中SSc的遗传与任何特定HLA等位基因有关，但发现这些家族成员的健康配偶中抗核抗体（ANA）自身抗体的频率显著。
结论
在本研究中，SSc罕见的家族发病率似乎并非主要与HLA系统相关，但提示其他未知的外源性环境因素可能与家族性疾病的发生有关。
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