Robinson D C, Watson A J, Wyatt E H, Marks J M, Roberts D F
Gut. 1971 Oct;12(10):789-93. doi: 10.1136/gut.12.10.789.
Evidence is presented of a higher than normal incidence both of clinical coeliac disease and of small-intestinal mucosal abnormalities in relatives of children with coeliac disease. In such relatives the incidence of mucosal abnormality may differ from the incidence of clinical coeliac disease. The data show an absence of any simple Mendelian pattern of inheritance: in place of the hypothesis that inheritance is through a dominant gene of reduced penetrance, it is argued that the pathogenesis of coeliac disease is multifactorial, the genetic basis of susceptibility being polygenic and interacting with environmental factors. On this hypothesis the relative contributions of inheritance and environment to liability to the clinical condition are estimated, the genetic component being 45% +/- 9. Environmental factors appear more important in the development of mucosal abnormality.
有证据表明,患有乳糜泻的儿童亲属中,临床乳糜泻和小肠黏膜异常的发病率高于正常水平。在这些亲属中,黏膜异常的发病率可能与临床乳糜泻的发病率不同。数据显示不存在任何简单的孟德尔遗传模式:有人认为,乳糜泻的发病机制是多因素的,易感性的遗传基础是多基因的,并与环境因素相互作用,而不是通过一个外显率降低的显性基因进行遗传的假设。基于这一假设,估计了遗传和环境对临床疾病易感性的相对贡献,遗传成分占45%±9%。环境因素在黏膜异常的发生发展中似乎更为重要。