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杀菌/通透性增加蛋白(BPI)基因的多态性与克罗恩病相关。

A polymorphism of the bactericidal/permeability increasing protein (BPI) gene is associated with Crohn's disease.

作者信息

Klein Wolfram, Tromm Andreas, Folwaczny Christian, Hagedorn Michaela, Duerig Natascha, Epplen Joerg, Schmiegel Wolff, Griga Thomas

机构信息

Department of Human Genetics, Ruhr-University, Bochum, Germany.

出版信息

J Clin Gastroenterol. 2005 Apr;39(4):282-3. doi: 10.1097/01.mcg.0000155127.20290.07.

Abstract

BACKGROUND

The bactericidal/permeability increasing protein (BPI) is involved in the elimination of gram-negative bacteria. A functionally relevant single nucleotide polymorphism of the BPI gene causes an amino acid exchange (Glu216Lys).

STUDY

To evaluate whether this single nucleotide polymorphism contributes to the predisposition to inflammatory bowel disease, we compared the allele frequencies of 265 patients with Crohn's disease, 207 patients with ulcerative colitis, and 608 healthy controls.

RESULTS

The Glu/Glu genotype frequency was decreased significantly in Crohn's disease patients as compared with controls (P < 0.027). No differences were obvious in patients with ulcerative colitis.

CONCLUSIONS

Failure of the innate intestinal immune system could be involved in the pathogenesis of Crohn's disease via reduced/impaired defense against gram-negative bacteria.

摘要

背景

杀菌/通透性增加蛋白(BPI)参与革兰氏阴性菌的清除。BPI基因一个功能相关的单核苷酸多态性导致氨基酸交换(Glu216Lys)。

研究

为评估该单核苷酸多态性是否导致炎性肠病易感性,我们比较了265例克罗恩病患者、207例溃疡性结肠炎患者和608例健康对照者的等位基因频率。

结果

与对照组相比,克罗恩病患者中Glu/Glu基因型频率显著降低(P < 0.027)。溃疡性结肠炎患者中无明显差异。

结论

先天性肠道免疫系统功能障碍可能通过对革兰氏阴性菌防御能力降低/受损参与克罗恩病的发病机制。

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