代谢相关脂肪性肝病种族和民族差异的影响因素

刘倩倩; 栾好頔; 段志娇; 陈平

doi:10.12449/JCH260121

代谢相关脂肪性肝病种族和民族差异的影响因素

DOI: 10.12449/JCH260121

刘倩倩¹,
栾好頔¹,
段志娇²,
陈平^2, , ,

1.
内蒙古医科大学第一临床医学院，呼和浩特 010030
2.
内蒙古医科大学附属医院消化内科，呼和浩特 010030

基金项目:

国家自然科学基金 (82260115);

内蒙古自治区自然科学基金 (2023QN08061);

内蒙古医科大学附属医院青年探索项目 (2023NYFYTS019)

利益冲突声明：本文不存在任何利益冲突。

作者贡献声明：刘倩倩、栾好頔负责查阅资料；刘倩倩撰写论文；陈平、段志娇负责指导撰写文章、修改文章并最后定稿。

详细信息

通信作者:
陈平， nmgcp@sina.com （ORCID： 0000-0003-2504-3659）

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出版历程
- 收稿日期: 2025-04-29
- 录用日期: 2025-05-21
- 出版日期: 2026-01-25

Influencing factors for the racial and ethnic disparities in metabolic associated fatty liver disease

1.
The First Clinical Medical College of Inner Mongolia Medical University，Hohhot 010030，China
2.
Department of Gastroenterology，The Affiliated Hospital of Inner Mongolia Medical University，Hohhot 010030，China

Research funding:

National Natural Science Foundation of China (82260115);

Natural Science Fund Project of Inner Mongolia Autonomous Region (2023QN08061);

Youth Exploration Project of Affiliated Hospital of Inner Mongolia Medical University (2023NYFYTS019)

More Information

Corresponding author: CHEN Ping， nmgcp@sina.com （ORCID： 0000-0003-2504-3659）

摘要

摘要: 代谢相关脂肪性肝病（MAFLD）是一种与代谢综合征密切相关的慢性肝病，其发病机制复杂，涉及遗传、环境及生活方式等因素。近年研究发现，MAFLD的患病率及临床特征在不同种族和民族间存在显著差异，这些差异可能与遗传背景、环境因素、社会经济差异以及代谢特征等诸多因素密切相关。本文综述了国内外关于MAFLD种族与民族差异性的研究进展，深入探讨其潜在的发病机制及临床意义，并展望未来研究方向与干预措施，强调在多种族人群中加强MAFLD早期筛查和预防性健康教育的重要性。
- 代谢相关脂肪性肝病 /
- 种族差异 /
- 民族差异
Abstract: Metabolic associated fatty liver disease （MAFLD） is a chronic liver disease closely associated with metabolic syndrome， characterized by a complex pathogenesis involving genetic， environmental， and lifestyle factors. Recent studies have shown significant disparities in the prevalence rate and clinical features of MAFLD across different racial and ethnic groups， and such disparities might be associated with various factors such as genetic background， environmental factors， socioeconomic disparities， and metabolic profiles. This article reviews the latest research advances in racial and ethnic differences in MAFLD in China and globally， discusses its potential pathogenic mechanisms and clinical significance， proposes future research directions and interventional measures， and emphasizes the critical need to enhance MAFLD screening and preventive health education in multiethnic populations.
- Metabolic Associated Fatty Liver Disease /
- Racial Disparities /
- Ethnic Differences

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表 1 不同种族MAFLD代谢特征及遗传多态性差异

Table 1. Metabolic characteristics and genetic polymorphism differences of MAFLD among different races

项目	西班牙裔	亚洲裔	欧洲裔	非洲裔
代谢特征	极长链n-3多不饱和脂肪酸显著减少，TG及酰基肉毒碱水平升高^［8］脂肪氧合酶活性降低及可溶性环氧化物水解酶活性升高^［9］皮下脂肪体积与肝纤维化之间的关联性以西班牙裔人群最强^［10］	BMI较低时，即出现体脂百分比升高及代谢紊乱的特征^［11］血清ALT、AST和TC水平略高，但严重肝纤维化及NASH发病风险较低^［12］	TG高水平^［13］	内脏脂肪较少、 TG水平较低、 HDL-C水平较高^［14］
遗传多态性	PNPLA3 G等位基因在西班牙裔人群中的比例高于非洲裔和欧洲裔人群^［15］	ZPR1和FTO基因变异是中国台湾和欧洲人群罹患脂肪肝的共同遗传基础^［16］华裔：HSD17B13功能缺失型变异， rs72613567 TA等位基因、rs6834314 G等位基因^［17］印度裔：AGTR1基因rs227673、rs3772630 和rs3772627位点对MAFLD具有显著的保护作用，且rs3772622的G等位基因与肝纤维化程度呈正相关^［18］	MBOAT7基因的T 突变（rs641738）与 MAFLD严重程度相关^［19］	PNPLA3 C/C基因型比例较高，而G等位基因比例较低^［20］
注：PNPLA3，含patatin样磷脂酶结构域3；HSD17B13，17β-羟基类固醇脱氢酶13；FTO，脂肪和肥胖相关基因；ZPR1，锌指蛋白基因；MBOAT7，膜结合O-酰基转移酶结构域包含蛋白7；TM6SF2，跨膜6超家族成员；AGTR1，血管紧张素Ⅱ受体1型基因；BMI，体重指数；TC，总胆固醇；NASH，非酒精性脂肪性肝炎；TG，甘油三酯；HDL-C，高密度脂蛋白胆固醇；ALT，丙氨酸氨基转移酶；AST，天冬氨酸氨基转移酶；MAFLD，代谢相关脂肪性肝病。

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