Suppr超能文献

血栓前体基因突变与克罗恩病;存在关联吗?

Prothrombotic gene mutations and Crohn's disease; is there any association?

作者信息

Over-Hamzaoglu Hülya, Abaci Neslihan, Türe Filiz, Alkim Canan, Tezel Ahmet, Avsar Erol, Tözün Nurdan

机构信息

Institute of Gastroenterology, Marmara University, Istanbul, Turkey.

出版信息

Hepatogastroenterology. 2005 Sep-Oct;52(65):1467-9.

Abstract

BACKGROUND/AIMS: Patients with inflammatory bowel disease have an increased tendency for thromboembolism. In this study we aimed to determine the frequency of FV gene and Prothrombin G20210A gene mutations in a group of patients with Crohn's Disease (CD) and estimate its correlation with disease activity and clinical subtype.

METHODOLOGY

Forty-four CD patients and 43 healthy controls were included in the study. Twenty-three of the patients had inflammatory CD, while 11 had fibrostenotic and 10 had fistulizing CD. Only one patient had a history of deep vein thrombosis. Polymorphism Light Cycler FV Leiden mutation detection kit and Light Cycler prothrombin (G20210A) mutation detection kit were used for the detection of mutations in DNA samples.

RESULTS

Forty of the CD patients had normal factor V genotype, three (6.8%) patients showed a heterozygous, and one (2.3%) patient homozygous pattern. Two (4.7%) of the 43 controls showed heterozygous factor V mutation and 41 had normal FV genotype. Two (4.6%) CD patients had heterozygous prothrombin G20210A mutation, and there was only one (2.3%) homozygous mutation in the control group. There was no significant difference between controls and CD patients neither for factor V mutation (p > 0.05) nor for prothrombin G20210A mutations (p > 0.05). No correlation was found between disease activity and both gene mutations (p > 0.05), as well as between disease subtype and gene mutations (p > 0.05).

CONCLUSIONS

The prevalence of prothrombin G20210A gene and factor V Leiden gene mutations were found to be statistically insignificant among CD patients and control group.

摘要

背景/目的:炎症性肠病患者发生血栓栓塞的倾向增加。在本研究中,我们旨在确定一组克罗恩病(CD)患者中FV基因和凝血酶原G20210A基因突变的频率,并评估其与疾病活动度和临床亚型的相关性。

方法

本研究纳入了44例CD患者和43例健康对照者。其中23例患者为炎症型CD,11例为纤维狭窄型,10例为瘘管型CD。只有1例患者有深静脉血栓形成病史。采用多态性Light Cycler FV Leiden突变检测试剂盒和Light Cycler凝血酶原(G20210A)突变检测试剂盒检测DNA样本中的突变。

结果

40例CD患者的因子V基因型正常,3例(6.8%)患者表现为杂合型,1例(2.3%)患者为纯合型。43例对照者中有2例(4.7%)表现为因子V基因杂合突变,41例基因型正常。2例(4.6%)CD患者有凝血酶原G20210A基因杂合突变,对照组只有1例(2.3%)纯合突变。对照组与CD患者在因子V突变(p>0.05)和凝血酶原G20210A突变(p>0.05)方面均无显著差异。疾病活动度与两种基因突变之间(p>0.05)以及疾病亚型与基因突变之间均未发现相关性(p>0.05)。

结论

在CD患者和对照组中,凝血酶原G20210A基因和因子V Leiden基因突变的发生率在统计学上无显著意义。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验