NAFLD is a growing public health burden. However, the pathogenesis of NAFLD has not yet been fully elucidated, and the importance of genetic factors has only recently been appreciated. Genomic studies have revealed a strong association between NAFLD progression and the I148M variant in patatin-like phospholipase domain-containing protein 3 (PNPLA3). Nonetheless, very little is known about the mechanisms by which this gene and its variants can influence disease development. To investigate these mechanisms, we have developed an in vitro model that takes advantage of the unique properties of human-induced pluripotent stem cells (hiPSCs) and the CRISPR/CAS9 gene editing technology.

中文翻译：

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使用人类诱导的多能干细胞对 PNPLA3 相关的 NAFLD 进行建模

NAFLD 是一个日益严重的公共卫生负担。然而，NAFLD 的发病机制尚未完全阐明，遗传因素的重要性直到最近才受到重视。基因组研究表明，NAFLD 进展与含有 patatin 样磷脂酶结构域的蛋白 3 (PNPLA3) 中的 I148M 变体之间存在密切关联。尽管如此，对该基因及其变异体影响疾病发展的机制知之甚少。为了研究这些机制，我们开发了一种体外模型，该模型利用了人类诱导多能干细胞 (hiPSC) 和 CRISPR/CAS9 基因编辑技术的独特特性。