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PNPLA3

Meaning

PNPLA3, or Patatin-like phospholipase domain-containing 3, is a gene that encodes a protein involved in the metabolism of lipids, primarily expressed in liver and adipose tissue cells. A common single nucleotide polymorphism, the I148M variant, is the strongest known genetic determinant for the risk of developing hepatic steatosis, fibrosis, and Non-Alcoholic Fatty Liver Disease (NAFLD). This gene’s status is a critical biomarker in personalized metabolic and hormonal health risk assessment.