Biomedicines (Oct 2022)

NAFLD in Polycystic Ovary Syndrome: Association with <i>PNPLA3</i> and Metabolic Features

  • Amanda Medeiros Recuero,
  • Larissa Garcia Gomes,
  • Gustavo Arantes Rosa Maciel,
  • Fernanda de Mello Malta,
  • Ana Paula Moreira Salles,
  • Denise Cerqueira Paranaguá Vezozzo,
  • Edmund Chada Baracat,
  • João Renato Rebello Pinho,
  • Flair José Carrilho,
  • José Tadeu Stefano,
  • Claudia P. Oliveira

DOI
https://doi.org/10.3390/biomedicines10112719
Journal volume & issue
Vol. 10, no. 11
p. 2719

Abstract

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Background: The aim of this study was to determine the frequency of the rs738409 polymorphism in the patatin-like phospholipase domain containing 3 (PNPLA3) gene in patients with polycystic ovary syndrome (PCOS) and its impact on nonalcoholic fatty liver disease (NAFLD) risk and severity. We also evaluated other risk factors associated with NAFLD and advanced fibrosis. Methods: This was a cross-sectional study involving 163 patients with PCOS at a tertiary center. Genotyping for the PNPLA3 polymorphism was undertaken using a TaqMan assay. The degree of fibrosis was defined by transient elastography. Results: The prevalence of NAFLD was 72.4%, and the polymorphism was heterozygous in 41.7% and homozygous in 8% of patients. Homeostasis model assessment of insulin resistance ≥ 2.5 was the main factor associated with the risk of developing NAFLD (OR = 4.313, p = 0.022), and its effect was amplified by the polymorphism (OR = 12.198, p = 0.017). Age > 32 years also conferred a higher risk for NAFLD. HDL values ≥ 50 mg/dL conferred protection against the outcome. Metabolic syndrome (OR = 13.030, p = 0.020) and AST > 32 U/L (OR = 9.039, p = 0.009) were independent risk factors for advanced fibrosis. Conclusions: In women with PCOS, metabolic characteristics are more relevant than PNPLA3 polymorphism regarding the risk for NAFLD and its advanced forms, but these factors can act synergistically, increasing disease risk.

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