目的:研究PLA2G12A基因单核苷酸多态性(SNPs)与中国北方汉族儿童孤独症谱系障碍(ASD)的关联性,探讨PLA2G12A基因是否是ASD的易感基因。方法:采用Sequenom Mass ARRAY系统对纳入的85例ASD患儿(病例组)和183名健康儿童(对照组)PLA2G12A基...目的:研究PLA2G12A基因单核苷酸多态性(SNPs)与中国北方汉族儿童孤独症谱系障碍(ASD)的关联性,探讨PLA2G12A基因是否是ASD的易感基因。方法:采用Sequenom Mass ARRAY系统对纳入的85例ASD患儿(病例组)和183名健康儿童(对照组)PLA2G12A基因上的4个SNPs位点(rs6533451、rs2285714、rs2285713和rs11728699)进行基因型和等位基因检测;采用在线SNPStats分析程序行HardyWeioberg检验,分析2组研究对象基因型和等位基因型频数分布的差异;采用遗传模型分析各位点的基因多态性与ASD的关联性;采用Haploview 4.2软件分析各个单体型与ASD的关联性。结果:病例组和对照组研究对象PLA2G12A基因4个位点的基因型和等位基因型分布均符合Hardy-Weinberg平衡检验(P>0.05)。病例组和对照组PLA2G12A基因的4个位点基因型和等位基因频数分布差异无统计学意义(P>0.05);5个遗传模型下,各位点多态性与ASD均无关联(P>0.05);3个位点(rs6533451、rs2285714和rs11728699)组成的单体型与ASD无关联(P>0.05)。结论:PLA2G12A可能不是中国北方汉族儿童ASD的易感基因。展开更多
BACKGROUND Phospholipase A2(PLA2)enzymes are pivotal in various biological processes,such as lipid mediator production,membrane remodeling,bioenergetics,and maintaining the body surface barrier.Notably,these enzymes p...BACKGROUND Phospholipase A2(PLA2)enzymes are pivotal in various biological processes,such as lipid mediator production,membrane remodeling,bioenergetics,and maintaining the body surface barrier.Notably,these enzymes play a significant role in the development of diverse tumors.AIM To systematically and comprehensively explore the expression of the PLA2 family genes and their potential implications in cholangiocarcinoma(CCA).METHODS We conducted an analysis of five CCA datasets from The Cancer Genome Atlas and the Gene Expression Omnibus.The study identified differentially expressed genes between tumor tissues and adjacent normal tissues,with a focus on PLA2G2A and PLA2G12B.Gene Set Enrichment Analysis was utilized to pinpoint associated pathways.Moreover,relevant hub genes and microRNAs for PLA2G2A and PLA2G12B were predicted,and their correlation with the prognosis of CCA was evaluated.RESULTS PLA2G2A and PLA2G12B were discerned as differentially expressed in CCA,manifesting significant variations in expression levels in urine and serum between CCA patients and healthy individuals.Elevated expression of PLA2G2A was correlated with poorer overall survival in CCA patients.Additionally,the study delineated pathways and miRNAs associated with these genes.CONCLUSION Our findings suggest that PLA2G2A and PLA2G12B may serve as novel potential diagnostic and prognostic markers for CCA.The increased levels of these genes in biological fluids could be employed as non-invasive markers for CCA,and their expression levels are indicative of prognosis,underscoring their potential utility in clinical settings.展开更多
目的:研究PLA2G4C基因单核苷酸多态性(SNPs)与北方汉族儿童孤独症谱系障碍(ASD)的关联性,探讨PLA2G4C基因是否为北方汉族儿童ASD的易感基因。方法:共纳入85例ASD患儿和183名健康儿童,选取5个SNPs位点(rs9226、rs1045376、rs251684、rs23...目的:研究PLA2G4C基因单核苷酸多态性(SNPs)与北方汉族儿童孤独症谱系障碍(ASD)的关联性,探讨PLA2G4C基因是否为北方汉族儿童ASD的易感基因。方法:共纳入85例ASD患儿和183名健康儿童,选取5个SNPs位点(rs9226、rs1045376、rs251684、rs2307279和rs156631),采用Sequenom Mass ARRAY系统进行基因型检测,通过在线SNPStats分析程序进行各位点Hardy-Weinberg(H-W)平衡定律检验,分析基因型及等位基因频数分布、各位点遗传模型与ASD的关联和单体型与ASD的关联。结果:病例组和对照组PLA2G4C基因5个位点基因型频数分布均符合H-W平衡定律(P>0.05);病例组和对照组基因型及等位基因频数分布差异无统计学意义(P>0.05);遗传模型分析,各位点SNPs与ASD无关联(P>0.05),rs251684、rs2307279和rs156631位点组成的各个单体型与ASD之间无关联(P>0.05)。结论:PLA2G4C可能不是北方汉族儿童ASD的易感基因。展开更多
目的探讨中国脑内铁沉积神经变性病(neurodegeneration with brain iron accumulation,NBIA)患者的临床特点及PLA2G6基因的突变特点。方法对3个NBIA家系、6个散发性NBIA患者的临床特点进行回顾性分析,应用聚合酶链反应(PCR)结合DNA直接...目的探讨中国脑内铁沉积神经变性病(neurodegeneration with brain iron accumulation,NBIA)患者的临床特点及PLA2G6基因的突变特点。方法对3个NBIA家系、6个散发性NBIA患者的临床特点进行回顾性分析,应用聚合酶链反应(PCR)结合DNA直接序列分析方法,对NBIA患者进行PLA2G6基因突变研究。结果所有患者主要表现为锥体外系症状;头部MRI T2加权像表现双侧苍白球、黑质等部位对称性低信号,其中1家系在苍白球低信号区的前内侧出现高信号,即"虎眼征";本组NBIA患者未发现PLA2G6基因的致病突变,共发现7个多态,分别为c.C511T、c.G87A、IVS2+16C→T、IVS4+71A→G、IVS5+43C→T、IVS6+19G→A、和IVS15+55G→A,其中2个(c.C511T、IVS6+19G→A)为新发现的多态。结论根据临床和头部MRI特征可临床诊断NBIA,中国人NBIA患者PLA2G6基因突变可能罕见。展开更多
文摘目的:研究PLA2G12A基因单核苷酸多态性(SNPs)与中国北方汉族儿童孤独症谱系障碍(ASD)的关联性,探讨PLA2G12A基因是否是ASD的易感基因。方法:采用Sequenom Mass ARRAY系统对纳入的85例ASD患儿(病例组)和183名健康儿童(对照组)PLA2G12A基因上的4个SNPs位点(rs6533451、rs2285714、rs2285713和rs11728699)进行基因型和等位基因检测;采用在线SNPStats分析程序行HardyWeioberg检验,分析2组研究对象基因型和等位基因型频数分布的差异;采用遗传模型分析各位点的基因多态性与ASD的关联性;采用Haploview 4.2软件分析各个单体型与ASD的关联性。结果:病例组和对照组研究对象PLA2G12A基因4个位点的基因型和等位基因型分布均符合Hardy-Weinberg平衡检验(P>0.05)。病例组和对照组PLA2G12A基因的4个位点基因型和等位基因频数分布差异无统计学意义(P>0.05);5个遗传模型下,各位点多态性与ASD均无关联(P>0.05);3个位点(rs6533451、rs2285714和rs11728699)组成的单体型与ASD无关联(P>0.05)。结论:PLA2G12A可能不是中国北方汉族儿童ASD的易感基因。
基金Supported by the Key Specialty Construction Project of Shanghai Pudong New Area Health Commission,No.PWZzk2022-17Shanghai East Hospital Clinical Research Project,No.DFLC2022019and the Featured Clinical Discipline Project of Shanghai Pudong District,No.PWYts2021-06.
文摘BACKGROUND Phospholipase A2(PLA2)enzymes are pivotal in various biological processes,such as lipid mediator production,membrane remodeling,bioenergetics,and maintaining the body surface barrier.Notably,these enzymes play a significant role in the development of diverse tumors.AIM To systematically and comprehensively explore the expression of the PLA2 family genes and their potential implications in cholangiocarcinoma(CCA).METHODS We conducted an analysis of five CCA datasets from The Cancer Genome Atlas and the Gene Expression Omnibus.The study identified differentially expressed genes between tumor tissues and adjacent normal tissues,with a focus on PLA2G2A and PLA2G12B.Gene Set Enrichment Analysis was utilized to pinpoint associated pathways.Moreover,relevant hub genes and microRNAs for PLA2G2A and PLA2G12B were predicted,and their correlation with the prognosis of CCA was evaluated.RESULTS PLA2G2A and PLA2G12B were discerned as differentially expressed in CCA,manifesting significant variations in expression levels in urine and serum between CCA patients and healthy individuals.Elevated expression of PLA2G2A was correlated with poorer overall survival in CCA patients.Additionally,the study delineated pathways and miRNAs associated with these genes.CONCLUSION Our findings suggest that PLA2G2A and PLA2G12B may serve as novel potential diagnostic and prognostic markers for CCA.The increased levels of these genes in biological fluids could be employed as non-invasive markers for CCA,and their expression levels are indicative of prognosis,underscoring their potential utility in clinical settings.
文摘目的:研究PLA2G4C基因单核苷酸多态性(SNPs)与北方汉族儿童孤独症谱系障碍(ASD)的关联性,探讨PLA2G4C基因是否为北方汉族儿童ASD的易感基因。方法:共纳入85例ASD患儿和183名健康儿童,选取5个SNPs位点(rs9226、rs1045376、rs251684、rs2307279和rs156631),采用Sequenom Mass ARRAY系统进行基因型检测,通过在线SNPStats分析程序进行各位点Hardy-Weinberg(H-W)平衡定律检验,分析基因型及等位基因频数分布、各位点遗传模型与ASD的关联和单体型与ASD的关联。结果:病例组和对照组PLA2G4C基因5个位点基因型频数分布均符合H-W平衡定律(P>0.05);病例组和对照组基因型及等位基因频数分布差异无统计学意义(P>0.05);遗传模型分析,各位点SNPs与ASD无关联(P>0.05),rs251684、rs2307279和rs156631位点组成的各个单体型与ASD之间无关联(P>0.05)。结论:PLA2G4C可能不是北方汉族儿童ASD的易感基因。
文摘目的探讨中国脑内铁沉积神经变性病(neurodegeneration with brain iron accumulation,NBIA)患者的临床特点及PLA2G6基因的突变特点。方法对3个NBIA家系、6个散发性NBIA患者的临床特点进行回顾性分析,应用聚合酶链反应(PCR)结合DNA直接序列分析方法,对NBIA患者进行PLA2G6基因突变研究。结果所有患者主要表现为锥体外系症状;头部MRI T2加权像表现双侧苍白球、黑质等部位对称性低信号,其中1家系在苍白球低信号区的前内侧出现高信号,即"虎眼征";本组NBIA患者未发现PLA2G6基因的致病突变,共发现7个多态,分别为c.C511T、c.G87A、IVS2+16C→T、IVS4+71A→G、IVS5+43C→T、IVS6+19G→A、和IVS15+55G→A,其中2个(c.C511T、IVS6+19G→A)为新发现的多态。结论根据临床和头部MRI特征可临床诊断NBIA,中国人NBIA患者PLA2G6基因突变可能罕见。
