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克罗恩病:患病家庭成员中病变部位和临床类型的一致性——潜在的遗传影响

Crohn's disease: concordance for site and clinical type in affected family members--potential hereditary influences.

作者信息

Bayless T M, Tokayer A Z, Polito J M, Quaskey S A, Mellits E D, Harris M L

机构信息

Gastroenterology Division, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

出版信息

Gastroenterology. 1996 Sep;111(3):573-9. doi: 10.1053/gast.1996.v111.pm8780559.

Abstract

BACKGROUND & AIMS: The association of genetic influences between bowel location and clinical type of Crohn's disease may provide more information on the genetic heterogeneity of inflammatory bowel disease. The aim of this study was to analyze familial occurrences of Crohn's disease for concordance for site and type.

METHODS

Of 554 consecutive patients, 95 (17%) had a family history of Crohn's disease. Sixty families were analyzed for concordance for site and clinical type and by a series of conditional logistic regression models to test the significance of concordance within families.

RESULTS

Eighty-six percent of families were concordant in at least 2 members for the site of Crohn's disease, and 82% were concordant for clinical type. Pairing family members together, concordance greater than expected in an unrelated population was observed. Using a conditional logistic regression model, a statistically significant role for concordance in predicting site and type of Crohn's disease in other affected family members was found.

CONCLUSIONS

Greater-than-expected concordance for site and clinical type of Crohn's disease within individual families is compatible with a concept of multiple, distinct forms of Crohn's disease, which, although possibly influenced by environment, seem more likely to be separate inheritable forms or phenotypes.

摘要

背景与目的

克罗恩病肠道病变部位与临床类型之间的遗传影响关联,可能为炎性肠病的遗传异质性提供更多信息。本研究旨在分析克罗恩病家族发病情况在病变部位和类型上的一致性。

方法

在554例连续患者中,95例(17%)有克罗恩病家族史。对60个家庭进行病变部位和临床类型一致性分析,并通过一系列条件逻辑回归模型检验家庭内部一致性的显著性。

结果

86%的家庭中至少有2名成员的克罗恩病病变部位一致,82%的家庭临床类型一致。将家庭成员配对后,观察到一致性高于非亲属人群的预期。使用条件逻辑回归模型发现,一致性在预测其他受影响家庭成员的克罗恩病病变部位和类型方面具有统计学显著作用。

结论

单个家庭中克罗恩病病变部位和临床类型的一致性高于预期,这与克罗恩病存在多种不同形式的概念相符,这些形式虽然可能受环境影响,但似乎更可能是独立的可遗传形式或表型。

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