非酒精性脂肪性肝病相关基因多态性的研究进展

牛同红; 张梅; 姜曼; 辛永宁; 宣世英

doi:10.3969/j.issn.1001-5256.2013.12.020

非酒精性脂肪性肝病相关基因多态性的研究进展

DOI: 10.3969/j.issn.1001-5256.2013.12.020

1. 青岛大学医学院
2. 青岛市市立医院消化内二科
3. 青岛市消化疾病重点实验室
4. 中国海洋大学医药学院

基金项目:

国家自然基金项目(81170337/H0304)；

详细信息

中图分类号: R575.5
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出版历程
- 收稿日期: 2013-05-13
- 出版日期: 2013-12-20

Research advances in gene polymorphisms in nonalcoholic fatty liver disease

Qingdao University Medical College

Research funding:

摘要

摘要: 非酒精性脂肪性肝病（NAFLD）在世界范围的患病率呈日益上升趋势。相关基因研究对完善其发病机制,补充治疗方案及改善预后至关重要。NAFLD在不同种族分布上的不均说明基因对其产生巨大作用。含patatin样磷脂酶域3（PNPLA3）及载脂蛋白CⅢ（APOCⅢ）基因在调节体内脂质代谢方面具有重要作用,成为近几年研究的热点。对NAFLD目前研究较深入的PNPLA3变异基因（rs738409[G],编码I148M）,以及APOCⅢ启动子区胰岛素反应元件上的-455T>C（rs2854116）和-482C>T（rs285417）基因多态性与NAFLD的相关性进行了综述。认为PNPLA3可以作为NAFLD发病的一个独立预测因素。关于APOCⅢ的研究国外意见各不相同,而国内的研究还处于初级阶段,为今后进一步研究NAFLD的发病机制提供了新思路。
- 多态性,单核苷酸 /
- 脂肪肝
Abstract: The incidence of non-alcoholic fatty liver disease ( NAFLD) is rising worldwide. Investigation of genes involved in the pathogenesis of NAFLD is significant for improving treatment regimen and prognosis. Differences in prevalence of NAFLD between races suggest genetic contribution in this disease. PNPLA3 and apoC-III genes, which have become research hotspots in recent years, play important roles in the regulation of lipid metabolism. Studies have established an association of PNPLA3 gene variant ( rs738409[G], encoding I148M) and two single nucleotide polymorphisms (-455T > C [rs2854116]and-482C > T [rs285417]) in the insulin response element in the apoC-III promoter region with NAFLD. The previous research achievements are summarized to conclude that PNPLA3 can be used as an independent predictor of the incidence of NAFLD. However, no consensus has been reached regarding apoC-III among the studies worldwide, and the relevant research in China is still in the primary stage. New ideas are explored for future research on the pathogenesis of NAFLD.
- polymorphism, single neucleotide /
- fatty liver

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参考文献(37)

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