Objective: A novel genetic and molecular basis of nonalcoholic fatty liver disease (NAFLD) was explored.
Study design: A 38-year-old male, who has no bad living and dietary habits, was diagnosed as NAFLD. The potential pathogenic role of Pin1 was evaluated by enzyme-linked immunosorbent (ELISA) assay and single nucleotide polymorphism (SNP) sequencing.
Results: ELISA determined a six-time higher concentration of plasma Pin1 compared to our previous data. Nine PIN1 SNPs were sequenced and classified according to their NAFLD-pathogenic risks, suggesting that rs2233678 and rs2287839 may be the most important genotypes that result in Pin1 overexpression and NAFLD development.
Conclusion: In summary, this work explores a novel basis for early-onset NAFLD and highlights that elevated plasma Pin1 may predict NAFLD risk at early stage. Hypothetically, inhibiting Pin1 may benefit NAFLD prevention in the future.
Keywords: Early diagnosis; FGF-2, fibroblast growth factor 2; Genetic basis; HIF-1α, hypoxia inducible factor-1α; NAFLD, nonalcoholic fatty liver disease; Nonalcoholic fatty liver disease; PPARα, peroxisome proliferator-activated receptor α; Pin1; Plasma biomarker; SNP, single nucleotide polymorphism; TGF-β1, transforming growth factor-β1; VEGF, vascular endothelial growth factor.
© 2019 The Authors.