Orholm M, Iselius L, Sørensen T I, Munkholm P, Langholz E, Binder V
Gastroenterological Department C, Herlev Hospital, University of Copenhagen, Denmark.
BMJ. 1993 Jan 2;306(6869):20-4. doi: 10.1136/bmj.306.6869.20.
To investigate the mode of inheritance of ulcerative colitis and Crohn's disease by complex segregation analysis.
Cross sectional population based survey of familial occurrence of chronic inflammatory bowel disease.
Population of the Copenhagen county in 1987.
662 patients in whom inflammatory bowel disease had been diagnosed before 1979, of whom 637 (96%) provided adequate information. Of 504 patients with ulcerative colitis, 54 had 77 relatives with ulcerative colitis and of 133 patients with Crohn's disease, five had seven relatives with Crohn's disease.
Patterns of segregation of either disease as assessed by complex segregation analysis performed with the computer program POINTER.
The analysis suggested that a major dominant gene with a penetrance of 0.20-0.26 is present in 9-13% of adult patients with ulcerative colitis. The analysis did not allow for other components in the familial aggregation. For Crohn's disease the best fitting model included a major recessive gene with complete penetrance, for which 7% of the patients are homozygous. However, this model was not significantly different from a multifactorial model.
The segregation pattern indicates that a major dominant gene has a role in ulcerative colitis, and suggests that a major recessive gene has a role in Crohn's disease.
通过复杂分离分析研究溃疡性结肠炎和克罗恩病的遗传模式。
基于人群的慢性炎症性肠病家族发病情况的横断面调查。
1987年哥本哈根县人群。
1979年前被诊断为炎症性肠病的662例患者，其中637例（96%）提供了充分信息。504例溃疡性结肠炎患者中，54例有77名患溃疡性结肠炎的亲属；133例克罗恩病患者中，5例有7名患克罗恩病的亲属。
使用计算机程序POINTER进行复杂分离分析评估的两种疾病的分离模式。
分析表明，9% - 13%的成年溃疡性结肠炎患者存在一个外显率为0.20 - 0.26的主要显性基因。该分析未考虑家族聚集性中的其他因素。对于克罗恩病，最佳拟合模型包括一个完全外显的主要隐性基因，7%的患者为纯合子。然而，该模型与多因素模型无显著差异。
分离模式表明一个主要显性基因在溃疡性结肠炎中起作用，并提示一个主要隐性基因在克罗恩病中起作用。
