Genomic DNA was extracted from peripheral blood lymphocytes of 105 healthy and 75 NIDDM Chinese subjects, The fragment located in exon 13 of the low density lipoprotein receptor (LDLR) gene was amplified by polymerase...Genomic DNA was extracted from peripheral blood lymphocytes of 105 healthy and 75 NIDDM Chinese subjects, The fragment located in exon 13 of the low density lipoprotein receptor (LDLR) gene was amplified by polymerase chain reaction (PCR), and digested with restriction enzyme HincII, LDL, TC and TG levels were measured in all subjects, investigations were conducted to explore the correlation between the HincII RFLP of LDLR gene aned NIDDM in the Chinese population. The results showed that no significant correlation existed between this RFLP locus and NIDDM. Marked differences were found, however, between the genotype distribution of low LDL level subgroups of NIDDM patients and normal controls. It was inferred that the H1 allele might be associated with high blood cholesterol levels, and the H2 allele with low cholesterol levels. Disturbances of lipid metabolism occur frequently in diabetes mellitus. This study suggested that differences in LDLR genotypes may affect the phenotypes of lipid metabolism.展开更多
目的探讨低密度脂蛋白受体(low density lipoprotein receptor,LDLR)基因C660X突变与不稳定型心绞痛的遗传易感性的关系。方法确诊的不稳定型心绞痛患者846例作为病例组,同一时期正常体检者835例作为对照组,利用聚合酶链反应-限制性片...目的探讨低密度脂蛋白受体(low density lipoprotein receptor,LDLR)基因C660X突变与不稳定型心绞痛的遗传易感性的关系。方法确诊的不稳定型心绞痛患者846例作为病例组,同一时期正常体检者835例作为对照组,利用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术及DNA直接测序技术,对两组的EDTA抗凝血LDLR基因C660X位点突变进行分型。采用因素回归分析统计该多态位点与不稳定型心绞痛易感性的关系。检测所有研究对象的血脂水平。结果不稳定型心绞痛患者组血脂指标中TC、TG、LDL-C与对照组比较明显升高(t=9.446,P<0.001;t=11.644,P<0.001;t=15.050,P<0.001),而HDL-C则明显低于对照组(t=-10.614,P<0.001);不稳定型心绞痛组患者的饮酒及阳性家族史的比例均高于对照组,差异有统计学意义(χ2=6.273,P=0.012;χ2=29.683,P<0.001)。CC、CA、AA基因型在不稳定型心绞痛组中的分布频率分别为74.2%、17.4%和8.4%,在对照组中分别是94.6%、3.5%和1.9%,两组间基因型频率分布差异有统计学意义(χ2=22.09,P<0.01)。多因素Logistic回归分析显示,LDLR基因C660X突变位点A/A变异等位基因是不稳定型心绞痛的独立危险因素(OR=3.21,95%CI=1.948-8.635,P<0.01)。结论 LDLR基因C660X(C/A)突变位点与不稳定型心绞痛患者遗传易感有关。展开更多
Background and Aims:Recent genome-wide association studies have shown that low-density lipoprotein receptor(LDLR)rs1433099 polymorphism is associated with cardiovascular disease(CVD)risk in many countries.However,the ...Background and Aims:Recent genome-wide association studies have shown that low-density lipoprotein receptor(LDLR)rs1433099 polymorphism is associated with cardiovascular disease(CVD)risk in many countries.However,the association of LDLR rs1433099 with CVD in China has not been reported yet.There are no studies on LDLR rs1433099 and non-alcoholic fatty liver disease(NAFLD)as well.The purpose of this study was to investigate whether LDLR rs1433099 is related to CVD or NAFLD in the Chinese population.Methods:LDLR rs1433099 polymorphism was genotyped in 507 individuals,including 140 healthy controls,79 NAFLD patients,185 CVD patients,and 103 patients with NAFLD combined with CVD.The expression of LDLR was tested by the sequence detection system,and clinical parameters were assessed by biochemical tests and physical examination.Results:The genotype distribution of LDLR rs1433099 was not statistically different among the NAFLD group,the CVD group,the combined group,and the healthy control group(p>0.05).There was no significant correlation of LDLR rs1433099 genotypic distribution or allele frequency and the risk of NAFLD,CVD or NAFLD combined with CVD(p>0.05).In the CVD group,T allele carriers had higher alkaline phosphatase and gamma-glutamyl transpeptidase than non-carriers(p<0.05).Conclusions:Our study demonstrated that the LDLR rs1433099 polymorphism is not a risk factor of NAFLD.The LDLR rs1433099 polymorphism may increase the risk of CVD through a mechanism involving alkaline phosphatase and gamma-glutamyl transpeptidase.展开更多
文摘Genomic DNA was extracted from peripheral blood lymphocytes of 105 healthy and 75 NIDDM Chinese subjects, The fragment located in exon 13 of the low density lipoprotein receptor (LDLR) gene was amplified by polymerase chain reaction (PCR), and digested with restriction enzyme HincII, LDL, TC and TG levels were measured in all subjects, investigations were conducted to explore the correlation between the HincII RFLP of LDLR gene aned NIDDM in the Chinese population. The results showed that no significant correlation existed between this RFLP locus and NIDDM. Marked differences were found, however, between the genotype distribution of low LDL level subgroups of NIDDM patients and normal controls. It was inferred that the H1 allele might be associated with high blood cholesterol levels, and the H2 allele with low cholesterol levels. Disturbances of lipid metabolism occur frequently in diabetes mellitus. This study suggested that differences in LDLR genotypes may affect the phenotypes of lipid metabolism.
文摘目的探讨低密度脂蛋白受体(low density lipoprotein receptor,LDLR)基因C660X突变与不稳定型心绞痛的遗传易感性的关系。方法确诊的不稳定型心绞痛患者846例作为病例组,同一时期正常体检者835例作为对照组,利用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术及DNA直接测序技术,对两组的EDTA抗凝血LDLR基因C660X位点突变进行分型。采用因素回归分析统计该多态位点与不稳定型心绞痛易感性的关系。检测所有研究对象的血脂水平。结果不稳定型心绞痛患者组血脂指标中TC、TG、LDL-C与对照组比较明显升高(t=9.446,P<0.001;t=11.644,P<0.001;t=15.050,P<0.001),而HDL-C则明显低于对照组(t=-10.614,P<0.001);不稳定型心绞痛组患者的饮酒及阳性家族史的比例均高于对照组,差异有统计学意义(χ2=6.273,P=0.012;χ2=29.683,P<0.001)。CC、CA、AA基因型在不稳定型心绞痛组中的分布频率分别为74.2%、17.4%和8.4%,在对照组中分别是94.6%、3.5%和1.9%,两组间基因型频率分布差异有统计学意义(χ2=22.09,P<0.01)。多因素Logistic回归分析显示,LDLR基因C660X突变位点A/A变异等位基因是不稳定型心绞痛的独立危险因素(OR=3.21,95%CI=1.948-8.635,P<0.01)。结论 LDLR基因C660X(C/A)突变位点与不稳定型心绞痛患者遗传易感有关。
基金This study was supported by grants from the National Natural Science Foundation of China(No.31770837).
文摘Background and Aims:Recent genome-wide association studies have shown that low-density lipoprotein receptor(LDLR)rs1433099 polymorphism is associated with cardiovascular disease(CVD)risk in many countries.However,the association of LDLR rs1433099 with CVD in China has not been reported yet.There are no studies on LDLR rs1433099 and non-alcoholic fatty liver disease(NAFLD)as well.The purpose of this study was to investigate whether LDLR rs1433099 is related to CVD or NAFLD in the Chinese population.Methods:LDLR rs1433099 polymorphism was genotyped in 507 individuals,including 140 healthy controls,79 NAFLD patients,185 CVD patients,and 103 patients with NAFLD combined with CVD.The expression of LDLR was tested by the sequence detection system,and clinical parameters were assessed by biochemical tests and physical examination.Results:The genotype distribution of LDLR rs1433099 was not statistically different among the NAFLD group,the CVD group,the combined group,and the healthy control group(p>0.05).There was no significant correlation of LDLR rs1433099 genotypic distribution or allele frequency and the risk of NAFLD,CVD or NAFLD combined with CVD(p>0.05).In the CVD group,T allele carriers had higher alkaline phosphatase and gamma-glutamyl transpeptidase than non-carriers(p<0.05).Conclusions:Our study demonstrated that the LDLR rs1433099 polymorphism is not a risk factor of NAFLD.The LDLR rs1433099 polymorphism may increase the risk of CVD through a mechanism involving alkaline phosphatase and gamma-glutamyl transpeptidase.
