Purpose of Review

Non-alcoholic fatty liver disease (NAFLD) is a major and increasing health burden, with the potential to overwhelm hepatology services. However, only a minority of patients develop advanced liver disease. The challenge is early identification of patients at risk of progression. This review aims to summarize current knowledge on the genetic predisposition to NAFLD, and its implications for prognostication and risk stratification.

Recent Findings

PNPLA3-I148M is the most robustly associated genetic variant with NAFLD. Recently, variants in TM6SF2, MBOAT7, GCKR and HSD17B13 have also been implicated. NAFLD is a complex disease, and any one genetic variant alone is insufficient for risk stratification, but combining multiple genetic variants with other parameters is a promising strategy.

Summary

It is anticipated that, in the near future, analysis of data from large-scale prospective cohorts will reveal NAFLD subtypes and enable the development of prognostic models. This will facilitate risk stratification of patients, enabling optimisation of resources to effectively manage the NAFLD epidemic.

中文翻译：

---

非酒精性脂肪肝的遗传因素及其预后意义

 审查目的

非酒精性脂肪肝病 (NAFLD) 是一种严重且日益严重的健康负担，有可能使肝病服务不堪重负。然而，只有少数患者会出现晚期肝病。挑战在于及早识别有进展风险的患者。本综述旨在总结目前关于 NAFLD 遗传易感性的知识及其对预测和风险分层的影响。

 最近的发现

PNPLA3 -I148M 是与 NAFLD 相关性最强的遗传变异。最近， TM6SF2 、 MBOAT7 、 GCKR和HSD17B13的变体也受到牵连。 NAFLD 是一种复杂的疾病，单独使用任何一种遗传变异不足以进行风险分层，但将多种遗传变异与其他参数相结合是一种有前途的策略。

 概括

预计在不久的将来，对大规模前瞻性队列数据的分析将揭示 NAFLD 亚型并促进预后模型的开发。这将有助于对患者进行风险分层，从而优化资源以有效管理 NAFLD 疫情。