[代谢功能障碍相关脂肪变性肝病进展中的心脏代谢和遗传因素]。

IF 0.3 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Terapevticheskii Arkhiv Pub Date : 2025-03-26 DOI:10.26442/00403660.2025.02.203203

V P Gomonova, K L Raikhelson

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引用次数: 0

摘要

目的：探讨心脏代谢因子和PNPLA3 I148M （rs738409 C>G）基因多态性在代谢功能障碍相关脂肪变性肝病（MASLD）患者代偿性晚期慢性肝病（cACLD）发生中的作用。材料与方法：入选MASLD患者108例，组成内部验证组；选择30例MASLD患者进行外部验证。评估了患者的记忆数据、人体测量和实验室参数以及PNPLA3基因多态性I148M （rs738409 C>G）的存在。通过评估控制衰减参数来检测脂肪变性。肝弹性采用瞬时弹性图评估。肝刚度≥8kpa时检测cACLD。结果：在内部验证组中，cACLD的发生率与动脉高血压的存在相关的比较有统计学意义(优势比- OR 5.58；95%可信区间：CI 1.21-25.71)， 2型糖尿病- T2DM (OR 4.58；95% CI 1.59-13.21)，肥胖(OR 3.13；95% CI 1.1-8.9)，血脂异常(OR 6.12；95% CI 1.33-28.19)和PNPLA3基因突变G等位基因(OR 3.9；95% ci 1.28-11.88)。cACLD患者的腰围（WC）、丙氨酸转氨酶、天冬氨酸转氨酶、γ -谷氨酰转移酶和甘油三酯等非侵入性脂肪变性和纤维化指标的平均值均显著升高。编译的预后模型显示，发生cld的可能性与存在T2DM之间存在直接关系(调整优势比：AOR 3.28；95% CI 0.62-17.33)、血脂异常(AOR 5.89；95% CI 1.21-28.67)和WC值(AOR 1.05；95% ci 1.01-1.11)。pnpla3i148m基因多态性对疾病晚期的发展无显著影响。外部验证表明该模型具有中等的诊断能力。结论：T2DM、血脂异常、WC值是MASLD患者发生cld的决定因素。PNPLA3 I148M基因多态性对研究队列中MASLD进展过程的发展无主导意义。

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[Cardiometabolic and genetic factors in the progression of metabolic dysfunction-associated steatotic liver disease].

Aim: To evaluate the contribution of cardiometabolicfactors and PNPLA3 I148M (rs738409 C>G) gene polymorphism to the development of compensated advanced chronic liver disease (cACLD) in patients with metabolic dysfunction-associated steatotic liver disease (MASLD).

Materials and methods: 108 patients with MASLD were enrolled and formed the internal validation group; 30 patients with MASLD were selected for external validation. Anamnestic data, anthropometric and laboratory parameters and the presence of PNPLA3 gene polymorphism I148M (rs738409 C>G) were assessed. Steatosis was detected by assessing the controlled attenuation parameter. Liver elasticity was assessed by transient elastography. cACLD was detected when the liver stiffness was ≥8 kPa.

Results: Statistically significant difference was observed in the internal validation group during comparison of the incidence of cACLD depending on the presence of arterial hypertension (odds ratio - OR 5.58; 95% confidence interval - CI 1.21-25.71), type 2 diabetes mellitus - T2DM (OR 4.58; 95% CI 1.59-13.21), obesity (OR 3.13; 95% CI 1.1-8.9), dyslipidemia (OR 6.12; 95% CI 1.33-28.19) and the mutant G allele of the PNPLA3 gene (OR 3.9; 95% CI 1.28-11.88). Patients with cACLD had significantly higher mean values of waist circumference (WC), alanine aminotransaminase, aspartate aminotransaminase, gamma-glutamyl transferase and triglycerides, non-invasive markers of steatosis and fibrosis. The compiled prognostic model demonstrated a direct relationship between the likelihood of developing cACLD and the presence of T2DM (adjusted odds ratio - AOR 3.28; 95% CI 0.62-17.33), dyslipidemia (AOR 5.89; 95% CI 1.21-28.67) and WC value (AOR 1.05; 95% CI 1.01-1.11). PNPLA3 I148M gene polymorphism did not significantly affect the development of late stages of the disease. External validation of the model showed its moderate diagnostic ability.

Conclusion: T2DM, dyslipidemia and WC values are the determining factors in the development of cACLD in patients with MASLD. The PNPLA3 I148M gene polymorphism has no leading importance for the development of the progressive course of MASLD in the studied cohort.

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来源期刊

Terapevticheskii Arkhiv 医学-医学：内科

CiteScore

1.40

自引率

33.30%

发文量

171

审稿时长

3-8 weeks

期刊介绍： Терапевтический архив The journal was founded by the prominent Russian therapists M.P. Konchalovsky and G.F. Lang in 1923. Then its editors-in-chief were Professors V.N. Vinogradov and A.G. Gukasyan. Since 1972, E.I. Chazov, Academician of the Russian Academy of Sciences, has been heading the editorial board of the journal. Over 90 years, there have been more than 1000 issues where the authors and editorial staff have done their best for readers to keep abreast of current advances in medical science and practice and for physicians to master the advanced principles of recognition and treatment of a wide spectrum of visceral diseases. The papers published in the journal (editorials, original articles, lectures, reviews, etc.) cover both current scientific achievements and practical experience in diagnosing, treating, and preventing visceral diseases. The authors of publications are not only Russian, but also foreign scientists and physicians. All papers are peer-reviewed by highly qualified Russian specialists. The journal is published monthly. Traditionally, each issue has predominantly certain thematic areas covering individual therapy specializations. Every year, one of the issues is devoted to related problems in practical medicine (allergology and immunology, neurology and psychiatry, obstetrics, oncology, etc.). This all draws the attention of the reading public to the journal. The journal is indexed in RSCI (Russian Science Citation Index), PubMed/Medline, Index Medicus, Scopus/EMBASE, Web of Science Core Collection (Science Citation Index Expanded), Web of Science (Russian Science Citation Index - RSCI, Current Contents Connect, BIOSIS Previews), Google Scholar, Ulrich''s Periodicals Directory. The journal is included in the list of periodicals recommended by the Higher Attestation Committee for publishing the papers containing the basic materials of doctoral and candidate dissertations. By the decision of the Presidium of the Russian Academy of Medical Sciences, the “Therapevticheskiy Arkhiv” was awarded the Botkin medal. It was admitted to the European Association of Sciences Editors (EASE). The journal was honored with the Golden Press Fund decoration at the 13th International Press Professional Exhibition.