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
Affiliations
Amanda Medeiros Recuero
Laboratório de Gastroenterologia Clínica e Experimental (LIM-07), Division of Clinical Gastroenterology and Hepatology, Department of Gastroenterology, Hospital das Clínicas, School of Medicine, University of Sao Paulo, Sao Paulo 048293, Brazil
Larissa Garcia Gomes
Division of Endocrinology and Metabolism, School of Medicine, University of Sao Paulo, Sao Paulo 048293, Brazil
Gustavo Arantes Rosa Maciel
Division of Gynecological Clinic, School of Medicine, University of Sao Paulo, Sao Paulo 048293, Brazil
Fernanda de Mello Malta
Institute of Tropical Medicine, LIM 07, University of Sao Paulo, Sao Paulo 048293, Brazil
Ana Paula Moreira Salles
Institute of Tropical Medicine, LIM 07, University of Sao Paulo, Sao Paulo 048293, Brazil
Denise Cerqueira Paranaguá Vezozzo
Division of Clinical Gastroenterology and Hepatology, Department of Gastroenterology, Hospital das Clínicas, School of Medicine, University of São Paulo, Sao Paulo 048293, Brazil
Edmund Chada Baracat
Division of Gynecological Clinic, School of Medicine, University of Sao Paulo, Sao Paulo 048293, Brazil
João Renato Rebello Pinho
Institute of Tropical Medicine, LIM 07, University of Sao Paulo, Sao Paulo 048293, Brazil
Flair José Carrilho
Laboratório de Gastroenterologia Clínica e Experimental (LIM-07), Division of Clinical Gastroenterology and Hepatology, Department of Gastroenterology, Hospital das Clínicas, School of Medicine, University of Sao Paulo, Sao Paulo 048293, Brazil
José Tadeu Stefano
Laboratório de Gastroenterologia Clínica e Experimental (LIM-07), Division of Clinical Gastroenterology and Hepatology, Department of Gastroenterology, Hospital das Clínicas, School of Medicine, University of Sao Paulo, Sao Paulo 048293, Brazil
Claudia P. Oliveira
Laboratório de Gastroenterologia Clínica e Experimental (LIM-07), Division of Clinical Gastroenterology and Hepatology, Department of Gastroenterology, Hospital das Clínicas, School of Medicine, University of Sao Paulo, Sao Paulo 048293, Brazil
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.