The TM6SF2 variant as a risk factor for hepatocellular carcinoma development in chronic liver disease patients.

IF 1.5 Q3 GASTROENTEROLOGY & HEPATOLOGY

Clinical and Experimental Hepatology Pub Date : 2022-09-01 DOI:10.5114/ceh.2022.119265

Gamal Y S Raia, Eman Abdelsameea, Dalia Hamdy Twfic Taie, Omar Elshaarawy, Noha Rabie Bayomy, Rasha G Mostafa, Aml Abd Alhamid Alsharnoby, Karema Abdelhady Diab

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Abstract

Introduction: Hepatocellular carcinoma (HCC) is one of the most prevalent cancers worldwide. A non-synonymous single nucleotide polymorphism (SNP) of the transmembrane 6 superfamily member 2 (TM6SF2) gene is associated with non-alcoholic fatty liver disease. SNPs of the TM6SF2 gene play an important role in the pathogenesis of HCC in alcoholic cirrhosis, but there are limited data regarding other possible etiologies. We aimed to evaluate the role of the rs58542926 polymorphism in the development of HCC in Egyptian chronic liver disease (CLD) patients.

Material and methods: A total of 120 participants, including 40 HCC patients, 40 CLD patients, and 40 healthy controls, were selected. Real-time polymerase chain reaction (RT-PCR) was used to detect the TM6SF2 rs58542926 polymorphism.

Results: There were no significant differences among the three studied groups regarding age (p = 0.06) and gender (p = 0.75). Frequencies of the CT, TT, CT + TT genotypes and the T allele were significantly higher in HCC patients than in the CLD and control groups (p < 0.001, p = 0.005, and p < 0.001, respectively). CLD patients with the CT genotype had a significantly increased risk of HCC development (OR = 4.67, 95% CI: 1.67-12.90). Patients with the TT genotype had a significantly increased risk of HCC (OR = 9.33, 95% CI: 1.72-50.61). Moreover, the T allele was correlated with an increased risk of HCC (OR = 5.44, 95% CI: 2.09-14.17) compared to the C allele.

Conclusions: The TM6SF2 rs58542926 genotype is associated with an increased risk of HCC in the Egyptian population.

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TM6SF2变异体作为慢性肝病患者肝细胞癌发展的危险因素

肝细胞癌(HCC)是世界范围内最常见的癌症之一。跨膜6超家族成员2 (TM6SF2)基因的非同义单核苷酸多态性(SNP)与非酒精性脂肪肝有关。TM6SF2基因的snp在酒精性肝硬化HCC的发病机制中起重要作用，但关于其他可能病因的数据有限。我们旨在评估rs58542926多态性在埃及慢性肝病(CLD)患者HCC发展中的作用。材料与方法:共选取120例参与者，其中HCC患者40例，CLD患者40例，健康对照40例。采用实时聚合酶链反应(RT-PCR)检测TM6SF2 rs58542926基因多态性。结果:三个研究组在年龄(p = 0.06)和性别(p = 0.75)上无显著差异。HCC患者的CT、TT、CT + TT基因型及T等位基因频率均显著高于CLD组和对照组(p < 0.001, p = 0.005, p < 0.001)。CT基因型的CLD患者发生HCC的风险显著增加(OR = 4.67, 95% CI: 1.67-12.90)。TT基因型患者发生HCC的风险显著增加(OR = 9.33, 95% CI: 1.72-50.61)。此外，与C等位基因相比，T等位基因与HCC风险增加相关(OR = 5.44, 95% CI: 2.09-14.17)。结论:在埃及人群中，TM6SF2 rs58542926基因型与HCC风险增加相关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical and Experimental Hepatology GASTROENTEROLOGY & HEPATOLOGY-

CiteScore

2.80

自引率

0.00%

发文量

期刊介绍： Clinical and Experimental Hepatology – quarterly of the Polish Association for Study of Liver – is a scientific and educational, peer-reviewed journal publishing original and review papers describing clinical and basic investigations in the field of hepatology.