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Abstract Details
PNPLA3 and SERPINA1 Variants Are Associated with Severity of Fatty Liver Disease at First Referral to a Tertiary Center
J Pers Med. 2021 Mar 1;11(3):165. doi: 10.3390/jpm11030165.
Georg Semmler123, Lorenz Balcar12, Hannes Oberkofler4, Stephan Zandanell1, Michael Strasser1, David Niederseer5, Alexandra Feldman1, Felix Stickel6, Pavel Strnad7, Christian Datz3, Bernhard Paulweber1, Elmar Aigner1
Author information
1First Department of Medicine, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.
2Division of Gastroenterology and Hepatology, Department of Internal Medicine III, Medical University of Vienna, 1090 Vienna, Austria.
3Department of Internal Medicine, General Hospital Oberndorf, Teaching Hospital of the Paracelsus Medical University Salzburg, 5110 Oberndorf, Austria.
4Department of Laboratory Medicine, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.
5Department of Cardiology, University Heart Center Zurich, University Hospital Zurich, University of Zurich, 8006 Zurich, Switzerland.
6Department of Gastroenterology and Hepatology, University Hospital Zurich, University of Zurich, 8006 Zurich, Switzerland.
7Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, 52074 Aachen, Germany.
Abstract
Single nucleotide polymorphisms (SNPs), including PNPLA3 rs738409 and SERPINA1 rs17580,have been identified as risk modifiers in the progression fatty liver disease (alcoholic (ALD) or non-alcoholic (NAFLD)). While PNPLA3 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 PNPLA3 G-allele was independently associated with a higher liver stiffness measurement (LSM; adjusted B: 2.707 (1.435-3.979), p < 0.001), and higher odds of ACLD (adjusted odds ratio (aOR): 1.971 (1.448-2.681), p < 0.001) and CSPH (aOR: 1.685 (1.180-2.406), p = 0.004). While the SERPINA1 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), p = 0.032). Associations of the PNPLA3 G-allele and the SERPINA1 Z-allele with CSPH were maintained independently of each other. The presence of both risk variants further increased the likelihood of ACLD and CSPH.