PNPLA3非酒精性脂肪性肝病、肝硬化和肝细胞癌患者的I148M基因多态性

Q3 Medicine

Rossiiskii zhurnal gastroenterologii gepatologii koloproktologii Pub Date : 2023-09-19 DOI:10.22416/1382-4376-2023-33-4-30-37

V. V. Petkau, G. A. Tsaur, E. N. Bessonova, A. A. Karimova

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The relationship between the occurrence of different genotype variants and the diagnosis of patients was evaluated, the odds ratio (OR) of progression of NAFLD and the reliability of intergroup differences were determined. Results. NAFLD patients with PNPLA3 I148M polymorphism have a significantly higher chance of developing LC and HCC. The odds ratio for the GG genotype was 7.94 (95 % Cl: 2.19–28.84; p = 0.030) for LC and 6.51 (95 % Cl: 1.15–4.08; p = 0.039) — for HCC with concomitant LC. The presence of the minor G allele also increases the likelhood of transition from NAFLD to LC (OR = 2.38; 95 % Cl: 1.41–4.02; p = 0.010) and HCC in the presence of cirrhosis (OR = 2.17; 95 % Cl: 1.15–4.08; p = 0.039). Differences in the frequency of PNPLA3 polymorphism between the NAFLD and HCC groups were not significant. Additional risk factors for HCC associated with NAFLD are overweight (OR = 5.14; 95 % Cl: 1.94–13.67; p < 0.001), arterial hypertension (OR = 8.49; 95 % Cl: 3.05–23,62; p < 0.001) and diabetes mellitus (OR = 8.57; 95 % Cl: 1.03–71.48; p = 0.032). Conclusion. The frequency of single nucleotide polymorphism PNPLA3 significantly differs in patients with NAFLD, cirrhosis and HCC compared with the control group of healthy volunteers. 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引用次数: 0

摘要

目的:确定非酒精性脂肪性肝病(NAFLD)患者PNPLA3 rs738409 C>G基因多态性导致p . i148m替代的频率，并揭示多态性与NAFLD可能结局(肝硬化(LC)和肝细胞癌(HCC))之间的关系。材料和方法。本研究采用“病例-对照”设计，主要分为NAFLD组(n = 46)、LC组(n = 61)、HCC组(n = 50)和对照组(n = 70)，对所有组进行PNPLA3基因rs738409多态性基因分型。评估不同基因型变异的发生与患者诊断的关系，确定NAFLD进展的优势比(OR)及组间差异的可靠性。结果。pnpla3i148m多态性的NAFLD患者发生LC和HCC的几率明显增高。GG基因型的优势比为7.94 (95% Cl: 2.19 ~ 28.84;LC的p = 0.030)和6.51 (95% Cl: 1.15-4.08;p = 0.039) - HCC合并LC。G等位基因的存在也增加了NAFLD向LC转变的可能性(OR = 2.38;95% Cl: 1.41-4.02;p = 0.010)和HCC合并肝硬化(OR = 2.17;95% Cl: 1.15-4.08;P = 0.039)。PNPLA3多态性在NAFLD和HCC组之间的频率差异无统计学意义。HCC与NAFLD相关的其他危险因素是超重(OR = 5.14;95% Cl: 1.94-13.67;p & lt;0.001)，动脉高血压(OR = 8.49;95% Cl: 3.05 - 23,62;p & lt;0.001)和糖尿病(OR = 8.57;95% Cl: 1.03-71.48;P = 0.032)。结论。NAFLD、肝硬化和HCC患者单核苷酸多态性PNPLA3的频率与健康志愿者对照组相比有显著差异。PNPLA3 I148M多态性增加NAFLD进展为肝硬化和HCC的发生率，但仅伴有肝硬化。

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Research of PNPLA3 I148M Gene Polymorphism in Patients with Non-Alcoholic Fatty Liver Disease, with Liver Cirrhosis and with Hepatocellular Carcinoma

Aim: to determine the frequency of PNPLA3 rs738409 C>G gene polymorphism, leading to p .I148M substitution, in patients with non-alcoholic fatty liver disease (NAFLD), and to reveal the association between polymorphism and probable NAFLD outcomes: liver cirrhosis (LC) and hepatocellular carcinoma (HCC). Materials and methods. The study was conducted according to the “case-control” design, three main groups were formed: a group with NAFLD ( n = 46), a group with LC ( n = 61), a group with HCC ( n = 50), as well as a control group ( n = 70), for all groups we performed genotyping of the rs738409 polymorphism of the PNPLA3 gene. The relationship between the occurrence of different genotype variants and the diagnosis of patients was evaluated, the odds ratio (OR) of progression of NAFLD and the reliability of intergroup differences were determined. Results. NAFLD patients with PNPLA3 I148M polymorphism have a significantly higher chance of developing LC and HCC. The odds ratio for the GG genotype was 7.94 (95 % Cl: 2.19–28.84; p = 0.030) for LC and 6.51 (95 % Cl: 1.15–4.08; p = 0.039) — for HCC with concomitant LC. The presence of the minor G allele also increases the likelhood of transition from NAFLD to LC (OR = 2.38; 95 % Cl: 1.41–4.02; p = 0.010) and HCC in the presence of cirrhosis (OR = 2.17; 95 % Cl: 1.15–4.08; p = 0.039). Differences in the frequency of PNPLA3 polymorphism between the NAFLD and HCC groups were not significant. Additional risk factors for HCC associated with NAFLD are overweight (OR = 5.14; 95 % Cl: 1.94–13.67; p < 0.001), arterial hypertension (OR = 8.49; 95 % Cl: 3.05–23,62; p < 0.001) and diabetes mellitus (OR = 8.57; 95 % Cl: 1.03–71.48; p = 0.032). Conclusion. The frequency of single nucleotide polymorphism PNPLA3 significantly differs in patients with NAFLD, cirrhosis and HCC compared with the control group of healthy volunteers. The PNPLA3 I148M polymorphism increases the incidence of NAFLD progression to cirrhosis and HCC, but only with concomitant cirrhosis.

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