目的探讨遗忘型轻度认知功能损害（amnestic mild cognitive impairment，aMCI）的认知特征及其与低密度脂蛋白受体相关蛋白1（low density lipoprotein receptor related proteinl，LRP1）基因C766T多态性的关联性。方法应用多维度神...目的探讨遗忘型轻度认知功能损害（amnestic mild cognitive impairment，aMCI）的认知特征及其与低密度脂蛋白受体相关蛋白1（low density lipoprotein receptor related proteinl，LRP1）基因C766T多态性的关联性。方法应用多维度神经心理测试评估109例aMCI患者和104例正常对照者的神经认知功能；采用等位基因鉴别方法分析LRPI基因C766T多态性。结果aMCI组的各项神经认知测试成绩均显著差于正常对照组（P〈0．01），尤以反映情节记忆的听觉词语记忆测试（AVMT）的20分钟延迟回忆受损最明显[aMCI组：3（0～4），正常对照组：7．5（6～12），Z=-12．697，P〈0．01]；aMCI组和正常对照组间LRP1基因C766T基因型和等位基因频率差异无统计学意义（P〉0．05）。aMCI组LRP1基因C766T等位基因亚组间各神经认知测试成绩差异无统计学意义（均P〉0．05）。结论aMCI患者存在明显的情节记忆减退；LRP1基因C766T多态性不是aMCI主要的遗传风险因素。展开更多
Background Genetic factors contribute to the development of coronary artery disease （CAD）.Recently,a missense mutation in the low density lipoprotein receptor related protein 6 （LRP6） gene,encoding low density lip...Background Genetic factors contribute to the development of coronary artery disease （CAD）.Recently,a missense mutation in the low density lipoprotein receptor related protein 6 （LRP6） gene,encoding low density lipoprotein receptor related protein 6,has been implicated in an autosomal dominant form of early-onset CAD.The aim of this study was to determine whether the common variants in LRP6 are associated with sporadic CAD in Chinese.Methods A total of 766 CAD patients and 806 healthy controls were included in this study.The presence of angiographic CAD was determined by coronary angiographic analysis.Six signal nucleotide polymorphisms （SNPs） were genotyped using the polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） technique.Results A significant association was detected between rs11054731 in LRP6 intron 2 and CAD in our cohort （P=0.001）.The CC genotype and C allele frequency in the case group were 52% and 72%.Using a dominant model of inheritance,the C allele of rs11054731 was shown to be an independent risk factor for CAD with an OR of 1.45 （95% CI：1.19-1.77,P=0.0002）.With the stratification according to the number of affected coronary arteries,an association was observed between rs11054731 and CAD （P=0.0002）.No significant association was observed between any other SNPs and the risk of CAD.Conclusion The C allele of the rs11054731 within the LRP6 gene was associated with increased risk and extent of CAD in Chinese.展开更多
目的研究脑微出血(cerebral microbleeds,CMBs)患者1,25-二羟维生素D3[1,25-dihydroxyvitamin D3,1,25-(OH)2D3],可溶性低密度脂蛋白受体相关蛋白1(soluble low density lipoprotein receptor related protein 1,sLRP1)水平与头颅SWI微...目的研究脑微出血(cerebral microbleeds,CMBs)患者1,25-二羟维生素D3[1,25-dihydroxyvitamin D3,1,25-(OH)2D3],可溶性低密度脂蛋白受体相关蛋白1(soluble low density lipoprotein receptor related protein 1,sLRP1)水平与头颅SWI微出血病灶数量及部位等影像学特征的相关关系。方法连续纳入2017年1月~2019年5月就诊于陕西省人民医院的CMBs患者196例(男性152例,女性44例),正常对照组99例(男性67例,女性32例),采集人口学资料及病史。对两组人群进行血浆1,25-(OH)2D3,sLRP1水平的检查。比较两组间血浆1,25-(OH)2D3和sLRP1水平的差异,并统计CMBs组各检验指标与CMBs病灶数量及部位的相关关系。结果CMBs组患者血浆1,25-(OH)2D3,sLRP1水平均低于对照组(23.32±18.91 mmol/L vs 39.60±18.58 mmol/L;237.96±70.62 ng/ml vs 312.61±62.78 ng/ml),差异均具有统计学意义(t=7.07,-9.24,均P<0.01)。CMBs患者血浆sLRP1水平与脑皮质CMBs病灶数量呈负相关(r=0.239,P=0.001),而与脑深部CMBs病灶数量无明显相关(t=-0.096,P>0.05)。结论CMBs患者的血浆1,25-(OH)2D3,sLRP1水平均低于正常人群。高表达的血浆sLRP1可能对脑皮质CMBs的发生具有一定的保护作用。展开更多
文摘目的探讨遗忘型轻度认知功能损害（amnestic mild cognitive impairment，aMCI）的认知特征及其与低密度脂蛋白受体相关蛋白1（low density lipoprotein receptor related proteinl，LRP1）基因C766T多态性的关联性。方法应用多维度神经心理测试评估109例aMCI患者和104例正常对照者的神经认知功能；采用等位基因鉴别方法分析LRPI基因C766T多态性。结果aMCI组的各项神经认知测试成绩均显著差于正常对照组（P〈0．01），尤以反映情节记忆的听觉词语记忆测试（AVMT）的20分钟延迟回忆受损最明显[aMCI组：3（0～4），正常对照组：7．5（6～12），Z=-12．697，P〈0．01]；aMCI组和正常对照组间LRP1基因C766T基因型和等位基因频率差异无统计学意义（P〉0．05）。aMCI组LRP1基因C766T等位基因亚组间各神经认知测试成绩差异无统计学意义（均P〉0．05）。结论aMCI患者存在明显的情节记忆减退；LRP1基因C766T多态性不是aMCI主要的遗传风险因素。
文摘Background Genetic factors contribute to the development of coronary artery disease （CAD）.Recently,a missense mutation in the low density lipoprotein receptor related protein 6 （LRP6） gene,encoding low density lipoprotein receptor related protein 6,has been implicated in an autosomal dominant form of early-onset CAD.The aim of this study was to determine whether the common variants in LRP6 are associated with sporadic CAD in Chinese.Methods A total of 766 CAD patients and 806 healthy controls were included in this study.The presence of angiographic CAD was determined by coronary angiographic analysis.Six signal nucleotide polymorphisms （SNPs） were genotyped using the polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） technique.Results A significant association was detected between rs11054731 in LRP6 intron 2 and CAD in our cohort （P=0.001）.The CC genotype and C allele frequency in the case group were 52% and 72%.Using a dominant model of inheritance,the C allele of rs11054731 was shown to be an independent risk factor for CAD with an OR of 1.45 （95% CI：1.19-1.77,P=0.0002）.With the stratification according to the number of affected coronary arteries,an association was observed between rs11054731 and CAD （P=0.0002）.No significant association was observed between any other SNPs and the risk of CAD.Conclusion The C allele of the rs11054731 within the LRP6 gene was associated with increased risk and extent of CAD in Chinese.
文摘目的研究脑微出血(cerebral microbleeds,CMBs)患者1,25-二羟维生素D3[1,25-dihydroxyvitamin D3,1,25-(OH)2D3],可溶性低密度脂蛋白受体相关蛋白1(soluble low density lipoprotein receptor related protein 1,sLRP1)水平与头颅SWI微出血病灶数量及部位等影像学特征的相关关系。方法连续纳入2017年1月~2019年5月就诊于陕西省人民医院的CMBs患者196例(男性152例,女性44例),正常对照组99例(男性67例,女性32例),采集人口学资料及病史。对两组人群进行血浆1,25-(OH)2D3,sLRP1水平的检查。比较两组间血浆1,25-(OH)2D3和sLRP1水平的差异,并统计CMBs组各检验指标与CMBs病灶数量及部位的相关关系。结果CMBs组患者血浆1,25-(OH)2D3,sLRP1水平均低于对照组(23.32±18.91 mmol/L vs 39.60±18.58 mmol/L;237.96±70.62 ng/ml vs 312.61±62.78 ng/ml),差异均具有统计学意义(t=7.07,-9.24,均P<0.01)。CMBs患者血浆sLRP1水平与脑皮质CMBs病灶数量呈负相关(r=0.239,P=0.001),而与脑深部CMBs病灶数量无明显相关(t=-0.096,P>0.05)。结论CMBs患者的血浆1,25-(OH)2D3,sLRP1水平均低于正常人群。高表达的血浆sLRP1可能对脑皮质CMBs的发生具有一定的保护作用。
