Exploring metabolic dysfunction-associated steatotic liver disease in lean individuals from Chile: Analysis of metabolic and genetic parameters

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Introduction: Steatotic liver disease associated with metabolic dysfunction (MASLD) is the most common liver disease in the world. Obesity is the most relevant risk factor, but MASLD can also be observed in people with normal weight. Aim: This study aimed to analyze the features of MASLD in Chilean patients with normal body mass index (BMI) and particularly the frequency of the rs738409 risk polymorphism in Chilean individuals with hepatic steatosis. Methods: A cross-sectional study was conducted involving 181 randomly selected participants diagnosed with MASLD from the prospective Maule Cohort (MAUCO). Participants were categorized into lean, overweight, and obese groups based on their BMI. The presence of the rs738409 polymorphism was examined using Sanger sequencing. Statistical analyses of clinical data and genotypes encompassed Fisher's exact test, Chi-square test, Kruskal-Wallis test, and prevalence analysis. Results: 31.49% (57) were classified as thin, 36.3% (61) as overweight and 39.8% (67) as obese. Apart from higher ALT levels (p=0.004) and body fat percentage in obese subjects, no significant differences were found between the groups in terms of clinical characteristics or comorbidities. The allelic frequency of rs738409 was 77.1%, 83.6% and 82.5% in lean, overweight, and obese subjects, respectively, with no significant differences evident. Conclusions: In this sample of Chilean subjects with MASLD there were no significant differences linked to BMI with respect to the clinical characteristics of MASLD or the allele frequency of rs738409. Nevertheless, lean subjects with MASLD share cardiometabolic characteristics when compared to overweight and obese individuals.
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Tesis (Magíster en Nutrición)--Pontificia Universidad Católica de Chile, 2024
TESIS EMBARGADA HASTA EL 18 DE MARZO DE 2027
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