外周血PNPLA3 rs738409基因多态性与非酒精性脂肪性肝病遗传易感性研究*

doi:10.3969/j.issn.1672-5069.2022.02.019

摘要/Abstract

摘要： 目的分析patatin样磷脂酶结构域蛋白3(PNPLA3)rs738409基因多态性与非酒精性脂肪性肝病(NAFLD)遗传易感性的关系。方法 2017年11月～2019年11月我院诊治的162例NAFLD患者和同期体检的100例健康人,采用聚合酶链式反应-限制性片段长度多态性检测外周血PNPLA3 rs738409位点多态性。结果 NAFLD组PNPLA3基因rs738409位点GG基因型频率为37.0%,G等位基因频率为58.3%,显著高于健康人(分别为11.0%和34.0%,P<0.05),而GC和CC基因型频率分别为42.6%和20.4%,C等位基因频率为41.7%,与健康人的46.0%、43.0%和66.0%比,差异无统计学意义(P>0.05);73例GG基因型的NAFLD患者血清ALT和AST水平分别为(118.5±20.3)U/L和(85.2±14.7)U/L,显著高于65例GC基因型患者[分别为(93.3±16.4)U/L和(59.6±10.3)U/L,P<0.05]或24例CC基因型患者[分别为(65.9±11.8)U/L和(31.9±5.5)U/L,P<0.05];GG和GC基因型NAFLD患者血清TG水平分别为(2.0±0.5)mmol/L和(1.6±0.4)mmol/L,均显著高于CC基因型NAFLD患者[(1.1±0.2)mmol/L,P<0.05]。结论本研究结果提示PNPLA3 rs738409基因多态性与NAFLD遗传易感性有关,其影响机制有待进一步研究明确。

关键词: 非酒精性脂肪性肝病, patatin样磷脂酶结构域蛋白3, 单核苷酸多态性, 易感性

Abstract: Objective The aim of this study was to analyze the correlation of rs738409 gene polymorphism of patatin like phospholipase domain containing protein 3 (PNPLA3) to genetic susceptibility of patients with nonalcoholic fatty liver diseases (NAFLD). Methods 162 patients with NAFLD and 100 healthy persons were recruited in our hospital between November 2017 and November 2019. The peripheral blood PNPLA3 rs738409 locus polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism. Results The frequencies of GG genotypes and the frequencies of G alleles at rs738409 locus of PNPLA3 gene in patients with NAFLD were 37.0% and 58.3%, both significantly higher than 11.0% and 34.0% (P<0.05) in healthy individuals, while the frequencies of GC and CC genotypes were 42.6% and 20.4%, the frequency of C allele was 41.7%, all not significantly different compared to 46.0%, 43.0% and 66.0% in the control (P>0.05); serum alanine aminotransferase and aspartate aminotransferase levels in 73 NAFLD patients with GG genotype were (118.5±20.3)U/L and (85.2±14.7)U/L, both significantly higher than [(93.3±16.4)U/L and (59.6±10.3)U/L, respectively, P<0.05] in 65 patients with GC genotype or [(65.9±11.8)U/L and (31.9±5.5)U/L, respectively, P<0.05] in 24 patients with CC genotype; serum triglyceride levels in patients with GG and GC genotypes were (2.0±0.5)mmol/L and (1.6±0.4)mmol/L, both significantly higher than [(1.1±0.2)mmol/L, P<0.05] in NAFLD patients with CC genotype. Conclusion Our findings suggest that the PNPLA3 rs738409 gene polymorphism might be related to genetic susceptibility of individuals to NAFLD, and the mechanism involved needs further studied.

Key words: Nonalcoholic fatty liver diseases, Patatin like phospholipase domain containing protein 3, Single nucleotide polymorphism, Susceptibility

李伟, 黄宇, 钟璟, 韦隽. 外周血PNPLA3 rs738409基因多态性与非酒精性脂肪性肝病遗传易感性研究^*[J]. 实用肝脏病杂志, 2022, 25(2): 227-230.

Li Wei, Huang Yu, Zhong Jing, et al. Correlation of PNPLA3 rs738409 gene polymorphism to genetic susceptibility of patients with nonalcoholic fatty liver disease[J]. Journal of Practical Hepatology, 2022, 25(2): 227-230.

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外周血PNPLA3 rs738409基因多态性与非酒精性脂肪性肝病遗传易感性研究^*

Correlation of PNPLA3 rs738409 gene polymorphism to genetic susceptibility of patients with nonalcoholic fatty liver disease

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