Semmler Georg, Binter Teresa, Kozbial Karin, Schwabl Philipp, Chromy David, Bauer David, Simbrunner Benedikt, Müllner-Bucsics Theresa, Scheiner Bernhard, Stättermayer Albert, Pinter Matthias, Steindl-Munda Petra, Trauner Michael, Ferenci Peter, Reiberger Thomas, Mandorfer Mattias
Division of Gastroenterology and Hepatology, Department of Internal Medicine III, Medical University of Vienna, 1090 Vienna, Austria.
Vienna Hepatic Hemodynamic Lab, Medical University of Vienna, 1090 Vienna, Austria.
J Pers Med. 2021 Apr 7;11(4):281. doi: 10.3390/jpm11040281.
Genetic variants including and have been shown to influence progression to advanced chronic liver disease (ACLD) in patients with chronic hepatitis C (CHC). We aimed to investigate their impact on disease regression (i.e., changes in hepatic venous pressure gradient [HVPG] and non-invasive surrogates [liver stiffness measurement (LSM), von Willebrand factor (VWF), and VWF/platelet count ratio (VITRO)]) and clinical outcomes after CHC cure in 346 patients with pre-treatment ACLD. Patients carrying the minor allele had more advanced liver disease prior to antiviral therapy, confirming its impact on liver disease progression. In a subgroup of 88 patients who underwent paired HVPG-measurements and were genotyped for all SNP/indels, genotypes were not associated with changes in HVPG. In line, changes in non-invasive surrogates of portal hypertension (LSM/VWF/VITRO) were comparable between carriers and non-carriers of the -allele in the overall cohort. Finally, carriage of -allele was not associated with the development of hepatic decompensation, de-novo hepatocellular carcinoma, or transplant-free mortality during a median follow-up of 42 months after the end of antiviral treatment. Therefore, genetic variants in do not impact the regression of portal hypertension and clinical outcomes in patients with pre-treatment ACLD after CHC cure.
包括[具体基因变异1]和[具体基因变异2]在内的基因变异已被证明会影响慢性丙型肝炎(CHC)患者进展为晚期慢性肝病(ACLD)。我们旨在研究它们对346例治疗前ACLD患者CHC治愈后疾病消退(即肝静脉压力梯度[HVPG]和非侵入性替代指标[肝脏硬度测量(LSM)、血管性血友病因子(VWF)和VWF/血小板计数比值(VITRO)]的变化)及临床结局的影响。携带[具体基因变异1]次要等位基因的患者在抗病毒治疗前肝病更严重,证实了其对肝病进展的影响。在88例接受配对HVPG测量并对所有单核苷酸多态性/插入缺失进行基因分型的患者亚组中,[具体基因变异1]基因型与HVPG变化无关。同样,在整个队列中,[具体基因变异1]等位基因携带者和非携带者之间门静脉高压的非侵入性替代指标(LSM/VWF/VITRO)变化相当。最后,在抗病毒治疗结束后的中位随访42个月期间,携带[具体基因变异1]等位基因与肝失代偿、新发肝细胞癌或无移植死亡率的发生无关。因此,[具体基因变异1]中的基因变异不会影响CHC治愈后治疗前ACLD患者门静脉高压的消退和临床结局。