Semmler Georg, Balcar Lorenz, Oberkofler Hannes, Zandanell Stephan, Strasser Michael, Niederseer David, Feldman Alexandra, Stickel Felix, Strnad Pavel, Datz Christian, Paulweber Bernhard, Aigner Elmar
First Department of Medicine, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.
Division of Gastroenterology and Hepatology, Department of Internal Medicine III, Medical University of Vienna, 1090 Vienna, Austria.
J Pers Med. 2021 Mar 1;11(3):165. doi: 10.3390/jpm11030165.
Single nucleotide polymorphisms (SNPs), including and have been identified as risk modifiers in the progression fatty liver disease (alcoholic (ALD) or non-alcoholic (NAFLD)). While has been studied in various settings, the value of both SNPs has so far not been addressed in a real-world cohort of subjects referred for a diagnostic work-up of liver disease. Thus, liver disease severity was assessed in 1257 consecutive patients with suspected ALD or NAFLD at the time of referral to a tertiary center. Advanced chronic liver disease (ACLD) was present in 309 (24.6%) patients and clinically significant portal hypertension (CSPH) was present in 185 (14.7%) patients. The G-allele was independently associated with a higher liver stiffness measurement (LSM; adjusted B: 2.707 (1.435-3.979), < 0.001), and higher odds of ACLD (adjusted odds ratio (aOR): 1.971 (1.448-2.681), < 0.001) and CSPH (aOR: 1.685 (1.180-2.406), = 0.004). While the Z-allele was not associated with a higher LSM or the presence of ACLD, it was independently associated with higher odds of CSPH (aOR: 2.122 (1.067-4.218), = 0.032). Associations of the G-allele and the Z-allele with CSPH were maintained independently of each other. The presence of both risk variants further increased the likelihood of ACLD and CSPH.
单核苷酸多态性（SNP），包括[具体内容缺失]已被确定为脂肪性肝病（酒精性肝病（ALD）或非酒精性肝病（NAFLD））进展中的风险修饰因子。虽然[具体内容缺失]已在各种情况下进行了研究，但到目前为止，这两种SNP在因肝病诊断检查而转诊的真实世界队列中的价值尚未得到探讨。因此，在转诊至三级中心时，对1257例连续的疑似ALD或NAFLD患者的肝病严重程度进行了评估。309例（24.6%）患者存在晚期慢性肝病（ACLD），185例（14.7%）患者存在临床显著性门静脉高压（CSPH）。[具体内容缺失]的G等位基因与较高的肝脏硬度测量值（LSM；调整后B：2.707（1.435 - 3.979），P < 0.001）、ACLD的较高几率（调整后优势比（aOR）：1.971（1.448 - 2.681），P < 0.001）和CSPH的较高几率（aOR：
