目的:验证74重单核苷酸多态性位点(SNP,Single Nucleotide Polymorphism)复合扩增体系用于全球十个区域亚人群(撒哈拉以南的非洲、北非、欧洲、西南亚、南亚、北亚、东亚、东南亚、大洋洲、美洲)推断的准确性。方法:基于Agena Mass ARR...目的:验证74重单核苷酸多态性位点(SNP,Single Nucleotide Polymorphism)复合扩增体系用于全球十个区域亚人群(撒哈拉以南的非洲、北非、欧洲、西南亚、南亚、北亚、东亚、东南亚、大洋洲、美洲)推断的准确性。方法:基于Agena Mass ARRY平台构建74重SNP复合扩增体系,检测176份盲测样本和10份已知族群的对照样本,使用全球57个人群3628份个体SNP分型作为参考人群库,使用项目组自主研发的族群来源推断自动分析系统(DNA Ancestry Analyzer Version 1.0,以下简称DAA V1.0)计算176份盲测样本和10份对照样本的群体匹配概率(AMP,Population Assignment Match Probability)、似然比(LR,Likelihood Ratio)和族群成分,综合分析三个结果进行推断。结果:176份盲测样本的族群推断结果与样本信息一致性为92.34%,10份对照样本族群推断结果与样本信息一致性为100%。结论:该74重SNP复合扩增体系能够准确推断未知个体洲际人群和亚人群来源,在实际案件中可应用,为案件侦查提供更详细的科学线索。展开更多
Teeth are one of the most important materials for anthropological studies because they are likely to be preserved in ancient remains.While the frequencies of dental characteristics can provide clues to the phylogeny o...Teeth are one of the most important materials for anthropological studies because they are likely to be preserved in ancient remains.While the frequencies of dental characteristics can provide clues to the phylogeny of populations,genetic studies at the individual level can further reveal the biological mechanisms and evolutionary context of dental characteristics.In this study,by analyzing 38 dental characteristics of 242 Xinjiang Uyghur individuals,we found that(i)the dental characteristics of the Uyghurs showed evidence of admixture between European and East Asian populations.The admixture proportions were in line with those previously reported in population genetic studies;(ii)the Xinjiang Uyghur dental characteristics formed three clusters in pairwise correlation analysis.One of the main clusters consisted of characteristics including incisor shoveling,double shoveling and mesial ridge;and(iii)all the characteristics in this cluster were significantly correlated with the genetic variant EDARV370A.The extracted composite phenotypic factor was also significantly associated with EDARV370A,which explained 18%of the total phenotypic variance.This indicated a pleiotropic effect,i.e.,the same genetic factor affects a number of dental characteristics at the same time.Our results confirmed that EDARV370A,a genetic variant that first originated in East Asia about 30000 years ago,played an important role in incisor shoveling in East Asia.This finding suggested that incisor shoveling in modern humans in East Asia is likely to have appeared after the late Pleistocene.展开更多
目的系统评价东亚人群IL-6-572C/G基因多态性与乙型肝炎病毒(HBV)感染易感性的关系。方法在PubMed、Web of Science、中国知网、万方数据库、维普网中搜索基于东亚人群的IL-6-572C/G(rs1800796C>G)基因多态性与HBV感染关系的病例对...目的系统评价东亚人群IL-6-572C/G基因多态性与乙型肝炎病毒(HBV)感染易感性的关系。方法在PubMed、Web of Science、中国知网、万方数据库、维普网中搜索基于东亚人群的IL-6-572C/G(rs1800796C>G)基因多态性与HBV感染关系的病例对照研究,检索时限均为建库至2021年10月,采用Stata S12.0软件进行meta分析。结果最终纳入10篇文献,包括3532例乙型肝炎病毒感染者和4020例对照者。meta分析结果显示:携带G等位基因和GG+GC、GG、GC基因型是东亚人群HBV感染的保护因素[G vs C(OR=0.80,95%CI:0.74~0.87,P<0.001);GG+GC vs CC(OR=0.77,95%CI:0.70~0.85,P<0.001);GG vs CG+CC(OR=0.72,95%CI:0.59~0.87,P=0.001);GC vs CC(OR=0.79,95%CI:0.72~0.87,P<0.001);GG vs CC(OR=0.66,95%CI:0.54~0.80,P<0.001)]。结论东亚人群中IL-6-572基因多态性改变(C>G)可能会降低HBV感染的风险。展开更多
Objective To clarify the association between rs1050450 polymorphism in Glutathione peroxidase-1 （GPx-1） and the risk of cardi-ovascular diseases （CVD） by performing a meta-analysis of published studies. There is g...Objective To clarify the association between rs1050450 polymorphism in Glutathione peroxidase-1 （GPx-1） and the risk of cardi-ovascular diseases （CVD） by performing a meta-analysis of published studies. There is growing evidence from different study types for an association of the GPx-1 polymorphism and cardiovascular outcomes, but observational studies have so far shown inconsistent results. Me-thods Relevant publications were searched through PubMed, Embase database databases and the Cochrane Library. We used odds ratios （ORs） with 95%confidence intervals （CIs） to assess the strength of association under the best genetic model. Both Q statistic and the I2 were used to check heterogeneity. Meta-regression analysis was performed to explore heterogeneity source. Sensitivity analysis, cumulative me-ta-analysis analysis and publication bias were used to test the reliability of the results. Results Data were available from two cohort studies and 8 case-control studies involving 1,430 cases and 3,767 controls. The pooled ORs for overall CVD risk was 1.36 with 95%CI：1.08-1.70 under a co-dominant model, and that for East Asian subgroup was 1.84 （95%CI：1.39-2.43）. Substantial heterogeneity for ORs were de-tected among all the included studies, mainly caused by ethnic differences between East Asian and non-East Asian populations. Although Egger＇s regression test suggested no statistical significant publication bias, Begg＇s funnel plot exhibited obvious asymmetry. The statistical significance disappeared after adjusting for potential publication bias in the overall studies. However, no substantial publication bias was found in the East Asian subgroup. Conclusions GPx-1 gene Pro198Leu and Pro197Leu polymorphisms considerably increased the risk of CVD in the East Asian population. Large-scale investigations are needed to confirm the results in different ethnicities.展开更多
目的研发东亚人群中具有较高个体识别率及族源分析能力的SNP Panal。方法以耶鲁大学KIDD教授建立的55个SNP Panel和加利福尼亚大学戴维斯分校SELDIN教授建立的128个SNP Panel,共计170个SNP Panel(简称170 SNP Panel)为基础,收集其在东...目的研发东亚人群中具有较高个体识别率及族源分析能力的SNP Panal。方法以耶鲁大学KIDD教授建立的55个SNP Panel和加利福尼亚大学戴维斯分校SELDIN教授建立的128个SNP Panel,共计170个SNP Panel(简称170 SNP Panel)为基础,收集其在东亚人群中的检测数据,计算SNP位点的遗传学参数,结合热图分析结果筛选出适合东亚人群的SNP位点,并检测部分藏族及汉族人群样本,运用STRUCTURE软件、主成分分析、热图分析等方法分析其用于族源推断的可能性。结果筛选出45个SNP组成的Panel(简称45 SNP Panel),其中SNP位点的遗传学参数平均值优于170 SNP Panel,与170 SNP Panel具有相同的族源分析及推断能力。结论在族源推断信息上,45 SNP Panel完全可以替代170 SNP Panel,达到相同的族源分析及推断能力。而在遗传学参数上,在东亚人群中45 SNP Panel优于170 SNP Panel,体现了其潜在的重要法医学应用价值。展开更多
文摘目的:验证74重单核苷酸多态性位点(SNP,Single Nucleotide Polymorphism)复合扩增体系用于全球十个区域亚人群(撒哈拉以南的非洲、北非、欧洲、西南亚、南亚、北亚、东亚、东南亚、大洋洲、美洲)推断的准确性。方法:基于Agena Mass ARRY平台构建74重SNP复合扩增体系,检测176份盲测样本和10份已知族群的对照样本,使用全球57个人群3628份个体SNP分型作为参考人群库,使用项目组自主研发的族群来源推断自动分析系统(DNA Ancestry Analyzer Version 1.0,以下简称DAA V1.0)计算176份盲测样本和10份对照样本的群体匹配概率(AMP,Population Assignment Match Probability)、似然比(LR,Likelihood Ratio)和族群成分,综合分析三个结果进行推断。结果:176份盲测样本的族群推断结果与样本信息一致性为92.34%,10份对照样本族群推断结果与样本信息一致性为100%。结论:该74重SNP复合扩增体系能够准确推断未知个体洲际人群和亚人群来源,在实际案件中可应用,为案件侦查提供更详细的科学线索。
基金supported by the National Natural Science Foundation of China(31271338,31071102,31071096,31260263,91331108,31322030)the National Key Technology Research and Development Program(2011BAI09B00)+2 种基金the National High Technology Research and Develop-ment Program of China(2012AA021802)the Ministry of Health(201002007),the Key Project of Ministry of Education(311016)the Philosophy and Social Science Foundation of Shanghai(2010BZH005)
文摘Teeth are one of the most important materials for anthropological studies because they are likely to be preserved in ancient remains.While the frequencies of dental characteristics can provide clues to the phylogeny of populations,genetic studies at the individual level can further reveal the biological mechanisms and evolutionary context of dental characteristics.In this study,by analyzing 38 dental characteristics of 242 Xinjiang Uyghur individuals,we found that(i)the dental characteristics of the Uyghurs showed evidence of admixture between European and East Asian populations.The admixture proportions were in line with those previously reported in population genetic studies;(ii)the Xinjiang Uyghur dental characteristics formed three clusters in pairwise correlation analysis.One of the main clusters consisted of characteristics including incisor shoveling,double shoveling and mesial ridge;and(iii)all the characteristics in this cluster were significantly correlated with the genetic variant EDARV370A.The extracted composite phenotypic factor was also significantly associated with EDARV370A,which explained 18%of the total phenotypic variance.This indicated a pleiotropic effect,i.e.,the same genetic factor affects a number of dental characteristics at the same time.Our results confirmed that EDARV370A,a genetic variant that first originated in East Asia about 30000 years ago,played an important role in incisor shoveling in East Asia.This finding suggested that incisor shoveling in modern humans in East Asia is likely to have appeared after the late Pleistocene.
文摘目的系统评价东亚人群IL-6-572C/G基因多态性与乙型肝炎病毒(HBV)感染易感性的关系。方法在PubMed、Web of Science、中国知网、万方数据库、维普网中搜索基于东亚人群的IL-6-572C/G(rs1800796C>G)基因多态性与HBV感染关系的病例对照研究,检索时限均为建库至2021年10月,采用Stata S12.0软件进行meta分析。结果最终纳入10篇文献,包括3532例乙型肝炎病毒感染者和4020例对照者。meta分析结果显示:携带G等位基因和GG+GC、GG、GC基因型是东亚人群HBV感染的保护因素[G vs C(OR=0.80,95%CI:0.74~0.87,P<0.001);GG+GC vs CC(OR=0.77,95%CI:0.70~0.85,P<0.001);GG vs CG+CC(OR=0.72,95%CI:0.59~0.87,P=0.001);GC vs CC(OR=0.79,95%CI:0.72~0.87,P<0.001);GG vs CC(OR=0.66,95%CI:0.54~0.80,P<0.001)]。结论东亚人群中IL-6-572基因多态性改变(C>G)可能会降低HBV感染的风险。
文摘Objective To clarify the association between rs1050450 polymorphism in Glutathione peroxidase-1 （GPx-1） and the risk of cardi-ovascular diseases （CVD） by performing a meta-analysis of published studies. There is growing evidence from different study types for an association of the GPx-1 polymorphism and cardiovascular outcomes, but observational studies have so far shown inconsistent results. Me-thods Relevant publications were searched through PubMed, Embase database databases and the Cochrane Library. We used odds ratios （ORs） with 95%confidence intervals （CIs） to assess the strength of association under the best genetic model. Both Q statistic and the I2 were used to check heterogeneity. Meta-regression analysis was performed to explore heterogeneity source. Sensitivity analysis, cumulative me-ta-analysis analysis and publication bias were used to test the reliability of the results. Results Data were available from two cohort studies and 8 case-control studies involving 1,430 cases and 3,767 controls. The pooled ORs for overall CVD risk was 1.36 with 95%CI：1.08-1.70 under a co-dominant model, and that for East Asian subgroup was 1.84 （95%CI：1.39-2.43）. Substantial heterogeneity for ORs were de-tected among all the included studies, mainly caused by ethnic differences between East Asian and non-East Asian populations. Although Egger＇s regression test suggested no statistical significant publication bias, Begg＇s funnel plot exhibited obvious asymmetry. The statistical significance disappeared after adjusting for potential publication bias in the overall studies. However, no substantial publication bias was found in the East Asian subgroup. Conclusions GPx-1 gene Pro198Leu and Pro197Leu polymorphisms considerably increased the risk of CVD in the East Asian population. Large-scale investigations are needed to confirm the results in different ethnicities.
文摘目的研发东亚人群中具有较高个体识别率及族源分析能力的SNP Panal。方法以耶鲁大学KIDD教授建立的55个SNP Panel和加利福尼亚大学戴维斯分校SELDIN教授建立的128个SNP Panel,共计170个SNP Panel(简称170 SNP Panel)为基础,收集其在东亚人群中的检测数据,计算SNP位点的遗传学参数,结合热图分析结果筛选出适合东亚人群的SNP位点,并检测部分藏族及汉族人群样本,运用STRUCTURE软件、主成分分析、热图分析等方法分析其用于族源推断的可能性。结果筛选出45个SNP组成的Panel(简称45 SNP Panel),其中SNP位点的遗传学参数平均值优于170 SNP Panel,与170 SNP Panel具有相同的族源分析及推断能力。结论在族源推断信息上,45 SNP Panel完全可以替代170 SNP Panel,达到相同的族源分析及推断能力。而在遗传学参数上,在东亚人群中45 SNP Panel优于170 SNP Panel,体现了其潜在的重要法医学应用价值。
