Gomonova V P, Raikhelson K L
Saint Petersburg State University.
Ter Arkh. 2025 Mar 26;97(2):149-156. doi: 10.26442/00403660.2025.02.203203.
To evaluate the contribution of cardiometabolicfactors and 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).
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 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.
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 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). 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.
T2DM, dyslipidemia and WC values are the determining factors in the development of cACLD in patients with MASLD. The I148M gene polymorphism has no leading importance for the development of the progressive course of MASLD in the studied cohort.
评估心脏代谢因素及I148M(rs738409 C>G)基因多态性对代谢功能障碍相关脂肪性肝病(MASLD)患者代偿期晚期慢性肝病(cACLD)发生发展的影响。
纳入108例MASLD患者组成内部验证组;选取30例MASLD患者进行外部验证。评估患者既往病史、人体测量学和实验室参数以及I148M(rs738409 C>G)基因多态性情况。通过评估受控衰减参数检测脂肪变性。采用瞬时弹性成像评估肝脏弹性。当肝脏硬度≥8 kPa时检测到cACLD。
在内部验证组中,根据是否存在动脉高血压(比值比 - OR 5.58;95%置信区间 - 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)以及该基因的突变G等位基因(OR 3.9;95% CI 1.28 - 11.88)比较cACLD的发病率,观察到统计学显著差异。cACLD患者的腰围(WC)、丙氨酸氨基转移酶、天冬氨酸氨基转移酶、γ-谷氨酰转移酶和甘油三酯的平均值显著更高,这些是脂肪变性和纤维化的非侵入性标志物。所编制的预后模型表明,发生cACLD的可能性与T2DM(调整后比值比 - 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)之间存在直接关系。I148M基因多态性对疾病晚期的发生发展没有显著影响。该模型的外部验证显示其具有中等诊断能力。
T2DM、血脂异常和WC值是MASLD患者发生cACLD的决定性因素。在研究队列中,I148M基因多态性对MASLD进展过程的发生发展没有主导作用。