Polymorphisms in PNPLA3 gene is associated with non-alcoholic fatty liver disease
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摘要: 非酒精性脂肪性肝病(NAFLD)已成为西方发达国家慢性肝病的首要病因,在我国已成为仅次于慢性病毒性肝炎的第二大肝病。但是其发病机制尚不清楚,目前仍然没有有效的治疗方式,有研究指出NAFLD与遗传、环境、精神心理因素有关,而且接触相似危险因素的个体间NAFLD的发病率差异较大,疾病进程亦不尽相同,这一事实提示遗传因素及基因多态性与NAFLD发病及进程有关。全基因组关联研究发现PNPLA3(patatin-like phospholipase domain containing 3)基因多态性与NAFLD的遗传易感性及进展有着密切的联系。本综述主要从PNPLA3的结构特征、PNPLA3基因的生物学特征及PNPLA3基因多态性与NAFLD的相关性几个方面进行探讨,从而有利于NAFLD发病机制的阐明,对NAFLD的预防和治疗提供可能。Abstract: Non-alcoholic fatty liver disease (NAFLD) , is the common liver disorder in the Western world and China.However, because the pathogenesis of NAFLD is undear, there is still no effeetive treatment.Provious Studies have pointed that the occurrence of NAFLD is relative with gehetic, enuiron mental and psychological factors.Some studies suggest that genetic factors and genetic polymorphism are related to pathogenesis and development of NAFLD.The genome-wide association studies shoued that the PNPLA3 (patatin like phospholipase domain containing 3) genetic polymorphism are closely linked with NAFLD.This review form several aspects to clarify the association between polymorphism in PNPLA3 gene and development of NAFLD.
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Key words:
- polymorphism /
- simple nucleotide
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