PNPLA3 and SERPINA1 Variants Are Associated with Severity of Fatty Liver Disease at First Referral to a Tertiary Center

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 has studied various settings, value of both SNPs so far not addressed a real-world cohort subjects referred for diagnostic work-up disease. Thus, severity was assessed 1257 consecutive patients with suspected ALD NAFLD at time referral to tertiary center. Advanced chronic (ACLD) present 309 (24.6%) clinically significant portal hypertension (CSPH) 185 (14.7%) patients. The G-allele independently associated higher stiffness measurement (LSM; adjusted B: 2.707 (1.435–3.979), p < 0.001), odds ACLD (adjusted ratio (aOR): 1.971 (1.448–2.681), 0.001) CSPH (aOR: 1.685 (1.180–2.406), = 0.004). Z-allele LSM presence ACLD, it 2.122 (1.067–4.218), 0.032). Associations were maintained each other. variants further increased likelihood CSPH.