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JAK-STAT通路中瘦素(Leptin,LEP)和信号转导子和转录激活子5a(signal transducers and activators of transcription,STAT5a)基因在崂山奶山羊群体中的遗传变异、交互作用及与生产性状的关联性。【方法】以174只崂山奶山羊...【目的】探讨JAK-STAT通路中瘦素(Leptin,LEP)和信号转导子和转录激活子5a(signal transducers and activators of transcription,STAT5a)基因在崂山奶山羊群体中的遗传变异、交互作用及与生产性状的关联性。【方法】以174只崂山奶山羊泌乳母羊为实验群体,其中89只来自种羊场,有完整的产奶量记录;85只来自育种户。利用DNA混池测序和候选基因直接测序技术检测LEP基因外显子2、外显子3和STAT5a基因外显子10、外显子16在该群体中的多态性,并采用最小二乘法分析了多态性位点与乳成分、校正产奶量、生长性状的关联效应。【结果】在所研究的群体中,LEP基因外显子2、3和STAT5a基因外显子10、16上均不存在多态性。LEP基因内含子2上存在一个A→G的单核苷酸替换,对于泌乳和生长性状而言,模型和场别效应均达到显著水平,该位点对育种场中校正产奶量和尻宽、育种户中体高有显著(P<0.05)或极显著(P<0.01)影响;STAT5a基因内含子9上存在A→G的单核苷酸替换和T→C的单核苷酸替换,这两个突变为连锁突变,对泌乳性状没有显著影响(P>0.05),对整个群体体长和胸围有显著(P<0.05)影响,对育种户胸围有极显著(P<0.01)影响。【结论】在崂山奶山羊中发现候选基因LEP和STAT5a存在多态性,相互之间没有交互作用,L393位点对育种场中校正产奶量和尻宽、育种户中体高有显著效应,S163/S206位点对整个群体的体重、体长和胸围,对育种户胸围有显著效应。因此,LEP和STAT5a基因可以作为崂山奶山羊产奶量及部分生长性状的遗传标记。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JAK-STAT通路中瘦素(Leptin,LEP)和信号转导子和转录激活子5a(signal transducers and activators of transcription,STAT5a)基因在崂山奶山羊群体中的遗传变异、交互作用及与生产性状的关联性。【方法】以174只崂山奶山羊泌乳母羊为实验群体,其中89只来自种羊场,有完整的产奶量记录;85只来自育种户。利用DNA混池测序和候选基因直接测序技术检测LEP基因外显子2、外显子3和STAT5a基因外显子10、外显子16在该群体中的多态性,并采用最小二乘法分析了多态性位点与乳成分、校正产奶量、生长性状的关联效应。【结果】在所研究的群体中,LEP基因外显子2、3和STAT5a基因外显子10、16上均不存在多态性。LEP基因内含子2上存在一个A→G的单核苷酸替换,对于泌乳和生长性状而言,模型和场别效应均达到显著水平,该位点对育种场中校正产奶量和尻宽、育种户中体高有显著(P<0.05)或极显著(P<0.01)影响;STAT5a基因内含子9上存在A→G的单核苷酸替换和T→C的单核苷酸替换,这两个突变为连锁突变,对泌乳性状没有显著影响(P>0.05),对整个群体体长和胸围有显著(P<0.05)影响,对育种户胸围有极显著(P<0.01)影响。【结论】在崂山奶山羊中发现候选基因LEP和STAT5a存在多态性,相互之间没有交互作用,L393位点对育种场中校正产奶量和尻宽、育种户中体高有显著效应,S163/S206位点对整个群体的体重、体长和胸围,对育种户胸围有显著效应。因此,LEP和STAT5a基因可以作为崂山奶山羊产奶量及部分生长性状的遗传标记。
文摘目的探讨黄芪葛根汤对高血脂症模型大鼠血脂,血清瘦素(LEP)、脂联素、脂联素受体2(Adipo R2)、过氧化物酶体增殖物激活受体(PPAR)mRNA和蛋白表达的影响。方法选取80只SPF级成年雄性SD大鼠,随机选取20只作为对照组,其余大鼠随机分为模型组、黄芪葛根汤组、黄芪组、葛根组共4组,每组15只。造模成功后第2天,黄芪葛根汤组、黄芪组、葛根组按照10 m L/kg进行灌胃给药,2次/d;模型组和对照组给予等量生理盐水,连续给药30 d。给药过程中,对照组喂养基础饲料,其余大鼠给予高脂饲料喂养。对所有组大鼠的血脂、LEP表达、脂联素、脂联素受体2、PPARα的mRNA和蛋白的表达情况进行观察对比。结果以高脂饲料喂养大鼠8周后,大鼠血清中血脂,LEP表达显著升高,脂联素、脂联素受体2、PPAR的mRNA和蛋白的表达均显著降低,与对照组相比差异显著(P<0.05)。大鼠高血脂症模型建立后,给予黄芪,葛根及黄芪葛根汤治疗,实验组大鼠血脂、LEP水平显著降低,脂联素、脂联素受体2、PPAR的mRNA和蛋白水平均显著升高(P<0.05),而相较于黄芪组和葛根组,黄芪葛根汤治疗组大鼠的各项指标均接近正常大鼠水平。结论黄芪葛根汤能够有效改善高血脂症大鼠的各临床指标,有显著的降血脂作用。
