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<p>Interrelationship of non-alcoholic fatty liver disease (NAFLD) with Gilbert syndrome (GS, homozygous <i>UGT1A1</i>*28/*28 or TA7/TA7 state) is intriguing as GS’ inherited unconjugated hyperbilirubinemia may protect against oxidative damage to hepatocytes and prevent the development of metabolic syndrome. Only a few prior papers report the frequencies of GS in NAFLD patients. We studied 152 adult NAFLD patients (69.7% males), sub-categorized into non-alcoholic fatty liver (NAFL, <i>n</i> = 51), non-alcoholic steatohepatitis (NASH, <i>n</i> = 30), and indeterminate-NASH (<i>n</i> = 71). Sanger sequencing for the <i>UGT1A1</i> promoter polymorphism was done in 74 patients with elevated bilirubin. Associations of GS, bilirubin levels and metabolic syndrome risk factors with the severity of NAFLD as predicted by biochemical, ultrasonographic (Fibroscan™) and histological parameters were examined. Patients with simple steatosis (NAFL) were significantly younger than those with NASH or indeterminate NASH. Overall, 30.9% patients had the metabolic syndrome and 25 and 52 had unconjugated and mixed hyperbilirubinemia respectively. Patients with higher bilirubin had significantly lower frequencies of the metabolic syndrome, steatohepatitis and necro-inflammation. Hyperbilirubinemia was significantly commoner in NAFL (74.5%) as compared to indeterminate NASH (43.7%) or NASH (26.7%). GS was found in 56/74 (75.7%) patients. <i>UGT1A1</i> genotypes did not correlate significantly with the severity of NAFLD. The high frequency of GS (75.7%) in this second-largest study worldwide suggests that GS testing is indicated in all NAFLD patients whose hyperbilirubinemia remains unexplained after alternative/treatable causes are excluded. Lower frequencies of the metabolic syndrome and less severe NAFLD in patients with higher bilirubin bear testimony to its protective effects.</p>

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Frequency and Associations of the Gilbert Syndrome (UGT1A1*28/*28) in Patients with Non–alcoholic Fatty Liver Disease

  • 期刊论文

  • 发表日期：

    2025年8月9日

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  • Anjali Thakur,
  • Ajay Kumar Duseja,
  • Ashim Das,
  • Arnab Pal,
  • Prashant Sharma,
  • Reena Das

摘要

Interrelationship of non-alcoholic fatty liver disease (NAFLD) with Gilbert syndrome (GS, homozygous UGT1A1*28/*28 or TA7/TA7 state) is intriguing as GS’ inherited unconjugated hyperbilirubinemia may protect against oxidative damage to hepatocytes and prevent the development of metabolic syndrome. Only a few prior papers report the frequencies of GS in NAFLD patients. We studied 152 adult NAFLD patients (69.7% males), sub-categorized into non-alcoholic fatty liver (NAFL, n = 51), non-alcoholic steatohepatitis (NASH, n = 30), and indeterminate-NASH (n = 71). Sanger sequencing for the UGT1A1 promoter polymorphism was done in 74 patients with elevated bilirubin. Associations of GS, bilirubin levels and metabolic syndrome risk factors with the severity of NAFLD as predicted by biochemical, ultrasonographic (Fibroscan™) and histological parameters were examined. Patients with simple steatosis (NAFL) were significantly younger than those with NASH or indeterminate NASH. Overall, 30.9% patients had the metabolic syndrome and 25 and 52 had unconjugated and mixed hyperbilirubinemia respectively. Patients with higher bilirubin had significantly lower frequencies of the metabolic syndrome, steatohepatitis and necro-inflammation. Hyperbilirubinemia was significantly commoner in NAFL (74.5%) as compared to indeterminate NASH (43.7%) or NASH (26.7%). GS was found in 56/74 (75.7%) patients. UGT1A1 genotypes did not correlate significantly with the severity of NAFLD. The high frequency of GS (75.7%) in this second-largest study worldwide suggests that GS testing is indicated in all NAFLD patients whose hyperbilirubinemia remains unexplained after alternative/treatable causes are excluded. Lower frequencies of the metabolic syndrome and less severe NAFLD in patients with higher bilirubin bear testimony to its protective effects.