乌克兰西部克罗恩病和大肠癌患者的NOD2c.3019-3020insC和c.2104C>T基因变异。

Q3 Medicine

Experimental oncology Pub Date : 2022-05-01 DOI:10.32471/exp-oncology.2312-8852.vol-44-no-1.17305

L. Lozynska, R. Pinyazhko, M. Lozynska, A. Pławski, H. Makukh, O. Lukavetskyy, M. Grzegotsky, O. Pinyazhko

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引用次数: 0

摘要

目的测定NOD2基因c.3019-3020insC（rs5743293）和c.2104C>T（rs2066844）等位基因突变在克罗恩病（CD）、癌症（CRC）患者和对照组中的频率，并研究这些突变与疾病发病时间、性别和手术干预的关系。材料和方法CD和CRC的诊断是基于标准的临床检查和实验室测试。对54例CD患者进行了NOD2基因3020insC突变的分子遗传学研究；NOD2基因的错义R702W突变——在41名CD患者和38名健康对照中。在CRC组中，48名患者检测到3020insC突变，40名患者和40名健康对照检测到R702W突变。采用PCR-RFLP技术进行突变鉴定。结果CD患者NOD2基因3020insC突变的次要等位基因（M）频率显著高于对照组（р=0.01）。携带3020insC突变的女性CD发病年龄显著低于未携带突变的女性（32.7±2.5岁）（p=0.002）CD患者R702W突变的等位基因频率和基因型分布。携带R702W突变的患者CD发病的平均年龄（28.4±1.4岁）显著低于无突变的患者（39.4±2.8岁）（p<0.01）。3020insC突变携带者中40.0%需要对CD进行手术干预。在CRC患者中，只有4.2%携带3020insC突变，20.0%携带R702W突变。我们的研究表明，R702W和3020insC突变与乌克兰患者CRC风险无关。在有/没有R702W突变的患者中，CRC发病时的平均年龄没有统计学上的显著差异。只有一名CRC患者有两个突变。结论CD发病年龄较早与3020insC突变有关，但仅发生在女性患者中。发现R702W突变与CD发病年龄提前有关。具有3020insC突变的患者显示出CD手术干预频率更高的趋势。

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NOD2c.3019-3020insC AND c.2104C>T GENE VARIANTS AMONG PATIENTS FROM WESTERN UKRAINE WITH CROHN'S DISEASE AND COLORECTAL CANCER.

AIM To determine the frequency of NOD2 gene c.3019-3020insC (rs5743293) and c.2104C>T (rs2066844) allelic variants in the patients with Crohn's disease (CD), colorectal cancer (CRC) and in the control groups and to study the association of these mutations with the onset time of the diseases, gender and surgical interventions. MATERIALS AND METHODS The diagnoses of CD and CRC were established based on standard clinical examination and laboratory tests. Molecular genetic study of a frameshift 3020insC mutations of NOD2 gene were performed in 54 patients with CD; missense R702W mutations of the NOD2 gene - in 41 CD patients and 38 healthy controls. In CRC group, 3020insC mutation was tested in 48 patients, R702W mutation - in 40 patients and 40 healthy controls. PCR-RFLP technique was used to identify the mutations. RESULTS The frequency of the minor allele (M) of 3020insC mutation of NOD2 gene in the patients with CD was significantly higher than in the control group (р = 0.01). The age at CD onset in females carrying 3020insC mutation was significantly lower (22.5 ± 1.6 years) when compared with females without the mutation (32.7 ± 2.5 years) (p = 0.002). There was no significant difference in the allele frequencies and genotype distributions of R702W mutation in the patients with CD in comparison with the controls. The mean age at CD onset in the patients carrying R702W mutation was significantly lower (28.4 ± 1.4 years) compared with the patients without the mutation (39.4 ± 2.8 years) (p < 0.01). Surgical interventions for CD was required in 40.0% of 3020insC mutation carriers. Among patients with CRC, only 4.2% carried 3020insC mutation and 20.0% R702W mutation. Our study suggests that R702W and 3020insC mutations are not associated with the risk of CRC in Ukrainian patients. There was no statistically significant difference in mean age at CRC onset in patients with/without R702W mutation. Only one patient with CRC had two mutations. CONCLUSION The earlier age at CD onset was associated with 3020insC mutation, but only in female patients. The association between R702W mutation and the earlier age of CD onset was found. Patients with 3020insC mutation showed a trend to a higher frequency of surgical interventions for CD.

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来源期刊

Experimental oncology Medicine-Oncology

CiteScore

1.40

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0.00%

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期刊介绍： The Experimental Oncology is an English-language journal that publishes review articles, original contributions, short communications, case reports and technical advances presenting new data in the field of experimental and fundamental oncology. Manuscripts should be written in English, contain original work, which has not been published or submitted for publication elsewhere. It also implies the transfer of the Copyright from the author to “Experimental Oncology”. No part of journal publications may be reproduced, stored in a retrieval system or transmitted in any form or by any means without the prior permission of the publisher.