Falchuk Z M, Katz A J, Shwachman H, Rogentine G N, Strober W
Scand J Gastroenterol. 1978;13(7):839-43. doi: 10.3109/00365527809182200.
The genetic marker histocompatibility antigen HLA-B8 is present in 80% of patients with gluten-sensitive enteropathy (GSE). We studied 35 families with at least one affected member to determine whether an HLA-region gene alone could determine susceptibility to GSE. The incidence of HLA-B8 in the patients was 69% vs 22% for normals (P less than 0.001). The incidence of GSE in HLA-genotype-identical siblings of patients was only 8%, and in HLA-B8-haplotype-identical siblings and parents of patients was only 14% and 5%, respectively. In addition, intestinal biopsies of HLA-identical or partially identical relatives of patients were studied in an in vitro organ culture system capable of detecting gluten sensitivity in subjects ingesting a normal diet. The results confirmed the low incidence of gluten sensitivity in these individuals. The organ culture system could not differentiate mucosa obtained from unaffected parents or siblings of patients with GSE (who presumably carry the HLA-associated genetic information) from mucosa obtained from normals. We conclude that the genetic material inherited with HLA-B8 alone is not sufficient to produce clinical or subclinical disease. Other genetic and environmental factors appear to be important for disease pathogenesis.
遗传标记组织相容性抗原HLA - B8存在于80%的麸质敏感性肠病（GSE）患者中。我们研究了35个至少有一名患病成员的家庭，以确定仅一个HLA区域基因是否就能决定对GSE的易感性。患者中HLA - B8的发生率为69%，而正常人为22%（P小于0.001）。患者的HLA基因型相同的同胞中GSE的发生率仅为8%，在HLA - B8单倍型相同的同胞和患者父母中分别仅为14%和5%。此外，在一个能够检测摄入正常饮食受试者麸质敏感性的体外器官培养系统中，研究了患者的HLA相同或部分相同亲属的肠道活检。结果证实这些个体中麸质敏感性的发生率较低。该器官培养系统无法区分从GSE患者未患病的父母或同胞（他们可能携带与HLA相关的遗传信息）获得的黏膜与从正常人获得的黏膜。我们得出结论，仅与HLA - B8一起遗传的遗传物质不足以产生临床或亚临床疾病。其他遗传和环境因素似乎对疾病发病机制很重要。
