NAFLD in Polycystic Ovary Syndrome: Association with IPNPLA3/I and Metabolic Features

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 ev...

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Published in:Biomedicines 2022-10, Vol.10 (11)
Main Authors: Recuero, Amanda Medeiros, Gomes, Larissa Garcia, Maciel, Gustavo Arantes Rosa, de Mello Malta, Fernanda, Salles, Ana Paula Moreira, Vezozzo, Denise Cerqueira Paranaguá, Baracat, Edmund Chada, Pinho, João Renato Rebello, Carrilho, Flair José, Stefano, José Tadeu, Oliveira, Claudia P
Format: Article
Language:English
Subjects:
Genetic aspects
Genetic polymorphisms
Insulin resistance
Liver
Liver diseases
Medical research
Medicine, Experimental
Risk factors
Stein-Leventhal syndrome
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Summary: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.
ISSN:2227-9059
2227-9059
DOI:10.3390/biomedicines10112719