Department of Family Medicine, Myoungji Hospital, Hanyang University College of Medicine, Goyang, Korea.
Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.
Gut Liver. 2024 Mar 15;18(2):316-327. doi: 10.5009/gnl230044. Epub 2023 Aug 10.
BACKGROUND/AIMS: The pathophysiology of lean nonalcoholic fatty liver disease (NAFLD) is unclear but has been shown to be associated with more diverse pathogenic mechanisms than that of obese NAFLD. We investigated the characteristics of genetic or metabolic lean NAFLD in a health checkup cohort.
This retrospective cross-sectional study analyzed single nucleotide polymorphism data for 6,939 health examinees. Lean individuals were categorized according to a body mass index cutoff of 23 kg/m. Single nucleotide polymorphisms were analyzed using genotyping arrays.
The prevalence of lean NAFLD was 21.6% among all participants with NAFLD, and the proportion of lean NAFLD was 18.5% among lean participants. The prevalence of metabolic syndrome and diabetes among lean patients with NAFLD was 12.4% and 10.4%, respectively. Lean NAFLD appeared to be metabolic-associated in approximately 20.1% of patients. The homozygous minor allele (GG) of (rs738409) and heterozygous minor alleles (CT, TT) of (rs58542926) were associated with lean NAFLD. However, the prevalence of fatty liver was not associated with the genetic variants (rs641738), (rs72613567), (rs2642438), or (rs2291702) in lean individuals. Lean NAFLD appeared to be associated with or genetic variation in approximately 32.1% of cases. Multivariate risk factor analysis showed that metabolic risk factors, genetic risk variants, and waist circumference were independent risk factors for lean NAFLD.
In a considerable number of patients, lean NAFLD did not appear to be associated with known genetic or metabolic risk factors. Further studies are required to investigate additional risk factors and gain a more comprehensive understanding of lean NAFLD.
背景/目的：瘦型非酒精性脂肪性肝病（NAFLD）的病理生理学尚不清楚，但已显示与肥胖型 NAFLD 相比具有更多样化的发病机制。我们在健康检查队列中研究了遗传或代谢性瘦型 NAFLD 的特征。
这项回顾性横断面研究分析了 6939 名健康受检者的单核苷酸多态性数据。根据体重指数（BMI）切点 23kg/m²将瘦型个体进行分类。使用基因分型阵列分析单核苷酸多态性。
在所有患有 NAFLD 的参与者中，瘦型 NAFLD 的患病率为 21.6%，在瘦型参与者中，瘦型 NAFLD 的比例为 18.5%。患有 NAFLD 的瘦型患者中代谢综合征和糖尿病的患病率分别为 12.4%和 10.4%。大约 20.1%的患者表现出代谢相关的瘦型 NAFLD。（rs738409）的纯合子次要等位基因（GG）和（rs58542926）的杂合子次要等位基因（CT、TT）与瘦型 NAFLD 相关。然而，在瘦型个体中，（rs641738）、（rs72613567）、（rs2642438）或（rs2291702）的遗传变异与脂肪肝的患病率无关。在大约 32.1%的病例中，瘦型 NAFLD 似乎与或遗传变异有关。多变量危险因素分析显示，代谢危险因素、遗传风险变异和腰围是瘦型 NAFLD 的独立危险因素。
在相当一部分患者中，瘦型 NAFLD 似乎与已知的遗传或代谢危险因素无关。需要进一步研究以探讨其他危险因素，并更全面地了解瘦型 NAFLD。
