Raia Gamal Y S, Abdelsameea Eman, Taie Dalia Hamdy Twfic, Elshaarawy Omar, Bayomy Noha Rabie, Mostafa Rasha G, Alsharnoby Aml Abd Alhamid, Diab Karema Abdelhady
National Liver Institute, Egypt.
Faculty of Medicine, Egypt.
Clin Exp Hepatol. 2022 Sep;8(3):211-218. doi: 10.5114/ceh.2022.119265. Epub 2022 Sep 15.
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 () gene is associated with non-alcoholic fatty liver disease. SNPs of the 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.
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 rs58542926 polymorphism.
There were no significant differences among the three studied groups regarding age ( = 0.06) and gender ( = 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 ( < 0.001, = 0.005, and < 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.
The rs58542926 genotype is associated with an increased risk of HCC in the Egyptian population.
肝细胞癌（HCC）是全球最常见的癌症之一。跨膜6超家族成员2（TM6SF2）基因的非同义单核苷酸多态性（SNP）与非酒精性脂肪性肝病相关。TM6SF2基因的SNP在酒精性肝硬化的HCC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发生中的作用。
共选取120名参与者，包括40名HCC患者、40名CLD患者和40名健康对照。采用实时聚合酶链反应（RT-PCR）检测TM6SF2 rs58542926多态性。
三个研究组在年龄（P = 0.06）和性别（P = 0.75）方面无显著差异。HCC患者中CT、TT、CT + TT基因型和T等位基因的频率显著高于CLD组和对照组（分别为P < 0.001、P = 0.005和P < 0.001）。具有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）。具有TT基因型的患者发生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）。
TM6SF2 rs58542926基因型与埃及人群HCC风险增加相关。
