OBJECTIVES We tested the hypothesis that a genetic deletion (Del) variant in the REPIN1 gene is associated with the severity of nonalcoholic fatty liver disease (NAFLD) in humans. METHODS Sixty-three donors of liver biopsies from individuals with obesity and different degrees of NAFLD and fibrosis were screened for a Del REPIN1 gene variant and liver REPIN1 mRNA expression. RESULTS In 8 homozygous Del carriers, we found significantly lower NAFLD activity and fibrosis scores compared with 55 wild-type allele carriers. DISCUSSION A Del variant of REPIN1 may be associated with a lower risk of the development of NAFLD.

中文翻译：

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人类 REPIN1 基因变体：非酒精性脂肪肝发展的遗传风险因素。

目的 我们检验了 REPIN1 基因中的遗传缺失 (Del) 变异与人类非酒精性脂肪肝病 (NAFLD) 的严重程度相关的假设。方法 对来自肥胖和不同程度 NAFLD 和纤维化的个体的 63 名肝活检供体进行 Del REPIN1 基因变异和肝脏 REPIN1 mRNA 表达的筛选。结果 在 8 名纯合 Del 携带者中，我们发现与 55 名野生型等位基因携带者相比，NAFLD 活性和纤维化评分显着降低。讨论 REPIN1 的 Del 变体可能与 NAFLD 发展的风险较低有关。