实现全基因组关联研究(Genome-wide association study,GWA)在数年前还是遗传学家们的梦想,如今它已经变成了现实。自2005年Science杂志报道了第一项有关年龄相关性(视网膜)黄斑变性全基因组关联研究研究以来,有关与复杂疾病的全基因组...实现全基因组关联研究(Genome-wide association study,GWA)在数年前还是遗传学家们的梦想,如今它已经变成了现实。自2005年Science杂志报道了第一项有关年龄相关性(视网膜)黄斑变性全基因组关联研究研究以来,有关与复杂疾病的全基因组关联研究如雨后春笋般层出不穷。文中介绍了近两年来全基因组关联研究在复杂疾病研究领域内的主要发现、全基因组关联研究设计原理、遗传标记的选择、比较及相关商品信息。最后介绍了人类基因组拷贝数变异的研究进展,总结了人类全基因组关联研究所取得成就和存在的问题,并对全基因组关联研究未来的研究重点和要解决的问题进行了展望。展开更多
Objective To develop a nationally acceptable blood pressure(BP)reference standards for the diagnosis and evaluation of hypertension in children and adolescents in China.Methods The current study was based on the data ...Objective To develop a nationally acceptable blood pressure(BP)reference standards for the diagnosis and evaluation of hypertension in children and adolescents in China.Methods The current study was based on the data from eleven large-scale cross-sectional BP surveys in China's Mainland since 2001,the survey sites were representative of national geographical distribution including four municipalities(Beijing,Shanghai,Tianjin,Chongqing)and seven provinces(Hunan,Liaoning,Hebei,Zhejiang,Guangxi,Xinqiang and Guangdong).The surveys which met the following selection criteria were involved to form the reference population sample and pooled database:1)Subjects were Han nationality and their ages were from 3 to 18 years old;2)BP levels were measured by auscultation using standard sphygmomanometer and recorded as Korotkoff phase 1(SBP),Korotkoff phase 4(DBP-K4)and/or Korotkoff phase 5(DBP-K5);3)All surveyors were trained before investigations and standard quality control was implemented throughout the BP measuring process;4)Basic variables,except BPs,were at least included but not limited to age,sex,nationality,height and weight.Totally 112 227 subjects(56 912 males accounting for 50.7%)were enrolled in the reference population sample in this study.SPSS 13.0 software was used to do the descriptive statistical analysis.Centile curves for SBP,DBP-K4 and DBP-K5 were drawn by sex using LMS method.Z scores of Height and BMI were calculated based on the data from the Chinese National Survey on Constitution and Health(CNSCH)in schoolchildren in 2005 to evaluate the nutrition status and development level of the reference population.Results The reference population had an optimal representation of Chinese Han children and adolescents.The resulting curves provided specific cut off points based on age and sex for the diagnosis of high normal BP,hypertension and severe hypertension,respectively.Given the best approach for blood pressure measurement in children and adolescents remained controversial,especially on the choice of K4 or K5 for diastolic blood pressure.So in present study we showed DBP reference standards with K4 and K5,respectively,that is,two sets of SBP/DBP-K4 and SBP/DBP-K5 were developed for the flexible usage in practice.The proposed reference standards of SBP/DBP-K4 were similar to the US fourth report on the diagnosis,evaluation,and treatment of high blood pressure in children and adolescents,with only exception of the age groups of preschool children and late adolescence.Cut off points for hypertension using DBP-K5 were significantly lower than the US standards.Conclusions The proposed reference standards,which were firstly developed based on the most recently pooled national data and in line with the growth and development characteristics of Chinese children and adolescents,should help for the early screening,diagnosis and evaluation of hypertension in children and adolescents,and were also recommended to be used in national comparisons of prevalence of hypertension.展开更多
文摘实现全基因组关联研究(Genome-wide association study,GWA)在数年前还是遗传学家们的梦想,如今它已经变成了现实。自2005年Science杂志报道了第一项有关年龄相关性(视网膜)黄斑变性全基因组关联研究研究以来,有关与复杂疾病的全基因组关联研究如雨后春笋般层出不穷。文中介绍了近两年来全基因组关联研究在复杂疾病研究领域内的主要发现、全基因组关联研究设计原理、遗传标记的选择、比较及相关商品信息。最后介绍了人类基因组拷贝数变异的研究进展,总结了人类全基因组关联研究所取得成就和存在的问题,并对全基因组关联研究未来的研究重点和要解决的问题进行了展望。
文摘Objective To develop a nationally acceptable blood pressure(BP)reference standards for the diagnosis and evaluation of hypertension in children and adolescents in China.Methods The current study was based on the data from eleven large-scale cross-sectional BP surveys in China's Mainland since 2001,the survey sites were representative of national geographical distribution including four municipalities(Beijing,Shanghai,Tianjin,Chongqing)and seven provinces(Hunan,Liaoning,Hebei,Zhejiang,Guangxi,Xinqiang and Guangdong).The surveys which met the following selection criteria were involved to form the reference population sample and pooled database:1)Subjects were Han nationality and their ages were from 3 to 18 years old;2)BP levels were measured by auscultation using standard sphygmomanometer and recorded as Korotkoff phase 1(SBP),Korotkoff phase 4(DBP-K4)and/or Korotkoff phase 5(DBP-K5);3)All surveyors were trained before investigations and standard quality control was implemented throughout the BP measuring process;4)Basic variables,except BPs,were at least included but not limited to age,sex,nationality,height and weight.Totally 112 227 subjects(56 912 males accounting for 50.7%)were enrolled in the reference population sample in this study.SPSS 13.0 software was used to do the descriptive statistical analysis.Centile curves for SBP,DBP-K4 and DBP-K5 were drawn by sex using LMS method.Z scores of Height and BMI were calculated based on the data from the Chinese National Survey on Constitution and Health(CNSCH)in schoolchildren in 2005 to evaluate the nutrition status and development level of the reference population.Results The reference population had an optimal representation of Chinese Han children and adolescents.The resulting curves provided specific cut off points based on age and sex for the diagnosis of high normal BP,hypertension and severe hypertension,respectively.Given the best approach for blood pressure measurement in children and adolescents remained controversial,especially on the choice of K4 or K5 for diastolic blood pressure.So in present study we showed DBP reference standards with K4 and K5,respectively,that is,two sets of SBP/DBP-K4 and SBP/DBP-K5 were developed for the flexible usage in practice.The proposed reference standards of SBP/DBP-K4 were similar to the US fourth report on the diagnosis,evaluation,and treatment of high blood pressure in children and adolescents,with only exception of the age groups of preschool children and late adolescence.Cut off points for hypertension using DBP-K5 were significantly lower than the US standards.Conclusions The proposed reference standards,which were firstly developed based on the most recently pooled national data and in line with the growth and development characteristics of Chinese children and adolescents,should help for the early screening,diagnosis and evaluation of hypertension in children and adolescents,and were also recommended to be used in national comparisons of prevalence of hypertension.
