BACKGROUND The prevalence of metabolic-associated fatty liver disease(MAFLD)is a growing public health issue in people living with human immunodeficiency virus(PLWH).However,the pathophysiology of MAFLD is still unkno...BACKGROUND The prevalence of metabolic-associated fatty liver disease(MAFLD)is a growing public health issue in people living with human immunodeficiency virus(PLWH).However,the pathophysiology of MAFLD is still unknown,and the role of genetic variables is only now becoming evident.AIM To evaluate the associations of gene-polymorphism-related MAFLD in PLWH.METHODS The study employed transient elastography with a controlled attenuation parameter≥248 dB/m to identify MAFLD in patients from a Super Tertiary Hospital in central Thailand.Candidate single-nucleotide polymorphisms(SNPs)were genotyped using TaqMan®MGB probe 5'nuclease assays for seven MAFLD-related genes.Statistical analyses included SNP frequency analysis,Fisher's Exact and Chi-square tests,odds ratio calculations,and multivariable logistic regression.RESULTS The G-allele carriers of PNPLA3(rs738409)exhibited a two-fold rise in MAFLD,increasing by 2.5 times in MAFLD with human immunodeficiency virus infection.The clinical features and genetic patterns imply that LEP rs7799039 A-allele carriers had a nine times(P=0.001)more significant chance of developing aberrant triglyceride among PLWH.CONCLUSION The current study shows an association between PNPLA3 rs738409 and LEP rs7799039 with MAFLD in PLWH.展开更多
目的 探讨PNPLA3基因多态性与肝癌易感性关系.方法 计算机检索数据库,收集有关PNPLA3基因多态性与肝癌病易感性关系病例对照研究,提取纳人文献的相关数据进行Meta分析,以病例组与对照组PNPLA3各种基因模型的比值比（OR）为效应指标,Egge...目的 探讨PNPLA3基因多态性与肝癌易感性关系.方法 计算机检索数据库,收集有关PNPLA3基因多态性与肝癌病易感性关系病例对照研究,提取纳人文献的相关数据进行Meta分析,以病例组与对照组PNPLA3各种基因模型的比值比（OR）为效应指标,Egger＇s检验和Bgger＇s检验偏倚.结果 共8篇研究符合纳入标准,累计病例数1266例,对照组3529例.Meta分析表明PNPLA3基因多态性与肝癌病易感性有明显关联性.结论 PNPLA3基因多态性与肝癌病易感性明显关联性[GG vs CC：OR=3.05,95％CI：2.42～3.86;CG vs CC：OR =1.30,95％CI：1.13 ～1.50;CG/GG vs CC：OR =1.39,95％CI：1.23～1.57;GG vs CG/CC：OR=2.90,95％CI：2.32～3.63].展开更多
基金Supported by the Faculty of Medicine,Ramathibodi Hospital,Mahidol University。
文摘BACKGROUND The prevalence of metabolic-associated fatty liver disease(MAFLD)is a growing public health issue in people living with human immunodeficiency virus(PLWH).However,the pathophysiology of MAFLD is still unknown,and the role of genetic variables is only now becoming evident.AIM To evaluate the associations of gene-polymorphism-related MAFLD in PLWH.METHODS The study employed transient elastography with a controlled attenuation parameter≥248 dB/m to identify MAFLD in patients from a Super Tertiary Hospital in central Thailand.Candidate single-nucleotide polymorphisms(SNPs)were genotyped using TaqMan®MGB probe 5'nuclease assays for seven MAFLD-related genes.Statistical analyses included SNP frequency analysis,Fisher's Exact and Chi-square tests,odds ratio calculations,and multivariable logistic regression.RESULTS The G-allele carriers of PNPLA3(rs738409)exhibited a two-fold rise in MAFLD,increasing by 2.5 times in MAFLD with human immunodeficiency virus infection.The clinical features and genetic patterns imply that LEP rs7799039 A-allele carriers had a nine times(P=0.001)more significant chance of developing aberrant triglyceride among PLWH.CONCLUSION The current study shows an association between PNPLA3 rs738409 and LEP rs7799039 with MAFLD in PLWH.
文摘目的 探讨PNPLA3基因多态性与肝癌易感性关系.方法 计算机检索数据库,收集有关PNPLA3基因多态性与肝癌病易感性关系病例对照研究,提取纳人文献的相关数据进行Meta分析,以病例组与对照组PNPLA3各种基因模型的比值比（OR）为效应指标,Egger＇s检验和Bgger＇s检验偏倚.结果 共8篇研究符合纳入标准,累计病例数1266例,对照组3529例.Meta分析表明PNPLA3基因多态性与肝癌病易感性有明显关联性.结论 PNPLA3基因多态性与肝癌病易感性明显关联性[GG vs CC：OR=3.05,95％CI：2.42～3.86;CG vs CC：OR =1.30,95％CI：1.13 ～1.50;CG/GG vs CC：OR =1.39,95％CI：1.23～1.57;GG vs CG/CC：OR=2.90,95％CI：2.32～3.63].
文摘目的:探讨PNPLA3在非酒精性脂肪性肝病中的表达水平及其Cp G岛甲基化状态,探讨PNPLA3在NAFLD发生、发展中的作用。方法:1.采用10μg/m L的油酸作用于人正常肝细胞株L02建立脂肪肝细胞模型,72 h后经油红O染色,观察正常组、脂肪肝模型组及给药组细胞内脂滴形成情况,并用荧光定量PCR检测PNPLA3在三组肝细胞中的表达情况。2.采用专用DNA提取试剂盒分别提取正常组、脂肪肝模型组、给药组细胞中DNA,经亚硫酸转化后行PCR扩增目的基因,并用焦磷酸测序方法检测不同组PNPLA3 Cp G岛中甲基化水平,探讨其在非酒精性脂肪肝中的作用。结果:1、脂肪肝模型组肝细胞PNPLA3 m RNA的表达高于正常组,经姜黄素给药后,其表达降低,差异均有统计学意义(P<0.05)。2、在PNPLA3启动子区6个检测位点中,脂肪肝组位点2甲基化水平高于正常组,姜黄素给药后甲基化水平降低,差异均有统计学意义(P<0.05),在其余各检测位点中甲基化水平无差异。结论:1、油红O染色后,脂肪肝模型组细胞内发现有大量红色脂滴积聚,而正常组基本上未见脂滴,姜黄素给药组脂滴较模型组减少,表明用10μg/m L的油酸诱导能成功建立体外肝细胞模型。2、PNPLA3 m RNA在肝细胞中高表达及其启动子区甲基化状态异常参与非酒精性脂肪肝发病。3、抑制肝脏PNPLA3活性或降低肝细胞PNPLA3 m RNA的表达水平可能是今后治疗非酒精性脂肪性肝病(NAFLD)的一个新的治疗方法。
