目的:研究载脂蛋白AI、B(ApoAI、B)基因多态性与非创伤性股骨头坏死(nontraumatic osteonecrosis of femoral head,NONFH)中医证候的相关性。方法:采用聚合酶链式反应(PCR)和限制性片段长度多态性(RFLP)对143例NON-FH患者和92例正常人...目的:研究载脂蛋白AI、B(ApoAI、B)基因多态性与非创伤性股骨头坏死(nontraumatic osteonecrosis of femoral head,NONFH)中医证候的相关性。方法:采用聚合酶链式反应(PCR)和限制性片段长度多态性(RFLP)对143例NON-FH患者和92例正常人分别进行ApoAI基因启动子-75bp位点、内含子+83bp位点,ApoB基因EcoRI、XbaI的多态性研究,采用聚合酶链反应(PCR)和琼脂糖凝胶电泳分析ApoB基因3’端可变数目串联重复序列(3’-VNTR);对NONFH患者按痰瘀阻络、经脉痹阻和肝肾亏虚3个证型进行中医辨证,用SAS软件分析基因型、等位基因在NONFH证候分型出现频率。结果:ApoAI启动子-75bp基因位点,经脉痹阻证和肝肾亏虚证的A/A基因型频率均高于对照组(P<0.05),肝肾亏虚证的G/A基因型频率显著低于对照组(P<0.01)、痰瘀阻络证和经脉痹阻证(P<0.05),而G/G基因型频率明显高于经脉痹阻证(P<0.05);等位基因比较中,经脉痹阻证G等位基因频率显著低于其他各组(P<0.05)。ApoAI启动子-内含子中,与痰瘀阻络相比,经脉痹阻证组的G/G-C/C、G/A-C/C基因型频率均显著降低(P<0.05);肝肾亏虚证组G/A-C/C基因型频率显著降低(P<0.05);而且肝肾亏虚证组G/A-C/C基因型频率显著低于经脉痹阻证组。ApoB基因XbaI基因型中,经脉痹阻证组X+X-基因型频率明显高于对照组(P<0.05),但X+、X-等位基因频率无明显差异(P>0.05)。在ApoAI基因内含子+83bp位点、ApoB基因EcoRI基因型、3’-VNTR基因型频率、等位基因频率在各证型及对照组间分布无明显差异(P>0.05)。结论:ApoAI基因启动子-75bp位点多态性、启动子——内含子位点多态性及ApoB基因XbaI基因型与NONFH证候分型有一定相关性;ApoAI基因内含子+83bp位点、ApoB基因EcoRI、3’-VNTR多态性可能与NONFH的证候发生、发展无相关关系。展开更多
Objective To explore the relationship between polymorphisms of XbaI and MspI loci of apolipoprotein B （ApoB） gene and -75 bp,＋83 bp loci of apolipoprotein AI （ApoAI） gene and coronary heart disease （CHD） in Kaz...Objective To explore the relationship between polymorphisms of XbaI and MspI loci of apolipoprotein B （ApoB） gene and -75 bp,＋83 bp loci of apolipoprotein AI （ApoAI） gene and coronary heart disease （CHD） in Kazaks of Xinjiang Uyghur Autonomous Region,China.Methods These loci were analyzed by PCR-restriction fragment length polymorphism （PCR-PFLP）.Two hundred and five patients with CHD and two hundred and thirty six controls were involved.Results There were significant distinctions among low-density lipoprotein cholesterol （LDL-C）,triglyceride （TG） and the ApoAI/ApoB ratio between the two groups,but no significant distinction among the polymorphism frequencies of the four sites between the two groups.The polymorphism coalition frequency of X-/Ms＋＋/M1＋-/M2＋＋ （named Coalition 11） was significantly higher in CHD compared to the control group （14.6％ vs.7.2％,P ＜ 0.05）.The level of total cholesterol （TC） in Coalition 1 1 was significantly higher and the level of the ApoAI/ApoB ratio in Coalition 11 was significantly lower than Coalition 1～10 in CHD patients.The level of the ApoAI/ApoB ratio of Coalition 11 was significantly lower than the Coalition 1～10 in control group.The levels of ApoAI/ApoB ratio of Coalition 3 were significantly higher compared to Coalition 11 in the two groups,respectively.The level of LDL-C of Coalition 3 was significantly lower than in the Coalition 11 in control group.The level of TC of Coalition 5 was significantly higher than Coalition 3 in the CHD group.The level of the ApoAI/ApoB ratio of Coalition 5 was significantly lower than in Coalition 3 or Coalition 1～10 of the two groups,respectively.The level of LDL-C of Coalition 5 was significantly higher than in Coalition 3 in control group.The ratio of ApoAI/ApoB was negatively related to TC,LDL-C and was positively related to HDL-C,both in CHD and control groups.Conclusion Coalition 11 of the 4 loci polymorphisms of the ApoB and ApoAI genes was correlated with CHD in Kazaks,and perhaps the ratio of ApoAI/ApoB was the most diagnostic parameter related with CHD among all lipid parameters.CHD may also be associated with Coalition 5,and,perhaps,Coalition 3 may have been confirmed as a protection factor against CHD,if more samples were enrolled.展开更多
Cardiovascular diseases are affected by multiple factors like genetic as well as environmental hence they reveal factorial nature. The evidences that genetic factors are susceptible for developing cardiovascular disea...Cardiovascular diseases are affected by multiple factors like genetic as well as environmental hence they reveal factorial nature. The evidences that genetic factors are susceptible for developing cardiovascular diseases come from twin studies and familial aggregation. Different ethnic populations reveal differences in the prevalence coronary artery disease(CAD) pointing towards the genetic susceptibility. With progression in molecular techniques different developments have been made to comprehend the disease physiology. Molecular markers have also assisted to recognize genes that may provide evidences to evaluate the role of genetic factors in causation of susceptibility towards CAD. Numerous studies suggest the contribution of specific "candidate genes", which correlate with various roles/pathways that are involved in the coronary heart disease. Different studies have revealed that there are large numbers of genes which are involved towards the predisposition of CAD. However, these reports are not consistent. One of the reasons could be weak contribution of genetic susceptibility of these genes. Genome wide associations show different chromosomal locations which dock, earlier unknown, genes which may attribute to CAD. In the present review different ApoAI-CⅡI-AIV gene clusters have been discussed.展开更多
文摘目的:研究载脂蛋白AI、B(ApoAI、B)基因多态性与非创伤性股骨头坏死(nontraumatic osteonecrosis of femoral head,NONFH)中医证候的相关性。方法:采用聚合酶链式反应(PCR)和限制性片段长度多态性(RFLP)对143例NON-FH患者和92例正常人分别进行ApoAI基因启动子-75bp位点、内含子+83bp位点,ApoB基因EcoRI、XbaI的多态性研究,采用聚合酶链反应(PCR)和琼脂糖凝胶电泳分析ApoB基因3’端可变数目串联重复序列(3’-VNTR);对NONFH患者按痰瘀阻络、经脉痹阻和肝肾亏虚3个证型进行中医辨证,用SAS软件分析基因型、等位基因在NONFH证候分型出现频率。结果:ApoAI启动子-75bp基因位点,经脉痹阻证和肝肾亏虚证的A/A基因型频率均高于对照组(P<0.05),肝肾亏虚证的G/A基因型频率显著低于对照组(P<0.01)、痰瘀阻络证和经脉痹阻证(P<0.05),而G/G基因型频率明显高于经脉痹阻证(P<0.05);等位基因比较中,经脉痹阻证G等位基因频率显著低于其他各组(P<0.05)。ApoAI启动子-内含子中,与痰瘀阻络相比,经脉痹阻证组的G/G-C/C、G/A-C/C基因型频率均显著降低(P<0.05);肝肾亏虚证组G/A-C/C基因型频率显著降低(P<0.05);而且肝肾亏虚证组G/A-C/C基因型频率显著低于经脉痹阻证组。ApoB基因XbaI基因型中,经脉痹阻证组X+X-基因型频率明显高于对照组(P<0.05),但X+、X-等位基因频率无明显差异(P>0.05)。在ApoAI基因内含子+83bp位点、ApoB基因EcoRI基因型、3’-VNTR基因型频率、等位基因频率在各证型及对照组间分布无明显差异(P>0.05)。结论:ApoAI基因启动子-75bp位点多态性、启动子——内含子位点多态性及ApoB基因XbaI基因型与NONFH证候分型有一定相关性;ApoAI基因内含子+83bp位点、ApoB基因EcoRI、3’-VNTR多态性可能与NONFH的证候发生、发展无相关关系。
文摘Objective To explore the relationship between polymorphisms of XbaI and MspI loci of apolipoprotein B （ApoB） gene and -75 bp,＋83 bp loci of apolipoprotein AI （ApoAI） gene and coronary heart disease （CHD） in Kazaks of Xinjiang Uyghur Autonomous Region,China.Methods These loci were analyzed by PCR-restriction fragment length polymorphism （PCR-PFLP）.Two hundred and five patients with CHD and two hundred and thirty six controls were involved.Results There were significant distinctions among low-density lipoprotein cholesterol （LDL-C）,triglyceride （TG） and the ApoAI/ApoB ratio between the two groups,but no significant distinction among the polymorphism frequencies of the four sites between the two groups.The polymorphism coalition frequency of X-/Ms＋＋/M1＋-/M2＋＋ （named Coalition 11） was significantly higher in CHD compared to the control group （14.6％ vs.7.2％,P ＜ 0.05）.The level of total cholesterol （TC） in Coalition 1 1 was significantly higher and the level of the ApoAI/ApoB ratio in Coalition 11 was significantly lower than Coalition 1～10 in CHD patients.The level of the ApoAI/ApoB ratio of Coalition 11 was significantly lower than the Coalition 1～10 in control group.The levels of ApoAI/ApoB ratio of Coalition 3 were significantly higher compared to Coalition 11 in the two groups,respectively.The level of LDL-C of Coalition 3 was significantly lower than in the Coalition 11 in control group.The level of TC of Coalition 5 was significantly higher than Coalition 3 in the CHD group.The level of the ApoAI/ApoB ratio of Coalition 5 was significantly lower than in Coalition 3 or Coalition 1～10 of the two groups,respectively.The level of LDL-C of Coalition 5 was significantly higher than in Coalition 3 in control group.The ratio of ApoAI/ApoB was negatively related to TC,LDL-C and was positively related to HDL-C,both in CHD and control groups.Conclusion Coalition 11 of the 4 loci polymorphisms of the ApoB and ApoAI genes was correlated with CHD in Kazaks,and perhaps the ratio of ApoAI/ApoB was the most diagnostic parameter related with CHD among all lipid parameters.CHD may also be associated with Coalition 5,and,perhaps,Coalition 3 may have been confirmed as a protection factor against CHD,if more samples were enrolled.
文摘Cardiovascular diseases are affected by multiple factors like genetic as well as environmental hence they reveal factorial nature. The evidences that genetic factors are susceptible for developing cardiovascular diseases come from twin studies and familial aggregation. Different ethnic populations reveal differences in the prevalence coronary artery disease(CAD) pointing towards the genetic susceptibility. With progression in molecular techniques different developments have been made to comprehend the disease physiology. Molecular markers have also assisted to recognize genes that may provide evidences to evaluate the role of genetic factors in causation of susceptibility towards CAD. Numerous studies suggest the contribution of specific "candidate genes", which correlate with various roles/pathways that are involved in the coronary heart disease. Different studies have revealed that there are large numbers of genes which are involved towards the predisposition of CAD. However, these reports are not consistent. One of the reasons could be weak contribution of genetic susceptibility of these genes. Genome wide associations show different chromosomal locations which dock, earlier unknown, genes which may attribute to CAD. In the present review different ApoAI-CⅡI-AIV gene clusters have been discussed.
