David T J, Ajdukiewicz A B
J Med Genet. 1975 Mar;12(1):79-82. doi: 10.1136/jmg.12.1.79.
Thirteen of 141 cases (9 percent) of overt, biopsy proven coeliac disease had a definitely affected relative. The pattern of inheritance in these families is compatible with an incompletely penetrant autosomal dominant gene. There was a female preponderance in the adults and the sporadic cases, but not in the children or the familial cases. The series included a pair of concordant and probably monozygotic twins. The authors believe that coeliac disease, as defined at present, is a heterogeneous condition.
141例经活检证实的显性乳糜泻病例中,有13例(9%)有明确患病的亲属。这些家族的遗传模式与一种不完全显性的常染色体显性基因相符。在成人和散发病例中女性占多数,但在儿童和家族性病例中并非如此。该系列病例包括一对同卵双生且可能患同病的双胞胎。作者认为,目前所定义的乳糜泻是一种异质性疾病。