文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期,新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2025

利用小面板的祖先信息标记推断欧洲人的原籍地理坐标。

Inferring geographic coordinates of origin for Europeans using small panels of ancestry informative markers.

机构信息

Department of Computer Science, Rensselaer Polytechnic Institute, Troy, New York, United States of America.

出版信息

PLoS One. 2010 Aug 18;5(8):e11892. doi: 10.1371/journal.pone.0011892.


DOI:10.1371/journal.pone.0011892
PMID:20805874
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2923600/
Abstract

Recent large-scale studies of European populations have demonstrated the existence of population genetic structure within Europe and the potential to accurately infer individual ancestry when information from hundreds of thousands of genetic markers is used. In fact, when genomewide genetic variation of European populations is projected down to a two-dimensional Principal Components Analysis plot, a surprising correlation with actual geographic coordinates of self-reported ancestry has been reported. This substructure can hamper the search of susceptibility genes for common complex disorders leading to spurious correlations. The identification of genetic markers that can correct for population stratification becomes therefore of paramount importance. Analyzing 1,200 individuals from 11 populations genotyped for more than 500,000 SNPs (Population Reference Sample), we present a systematic exploration of the extent to which geographic coordinates of origin within Europe can be predicted, with small panels of SNPs. Markers are selected to correlate with the top principal components of the dataset, as we have previously demonstrated. Performing thorough cross-validation experiments we show that it is indeed possible to predict individual ancestry within Europe down to a few hundred kilometers from actual individual origin, using information from carefully selected panels of 500 or 1,000 SNPs. Furthermore, we show that these panels can be used to correctly assign the HapMap Phase 3 European populations to their geographic origin. The SNPs that we propose can prove extremely useful in a variety of different settings, such as stratification correction or genetic ancestry testing, and the study of the history of European populations.

摘要

最近的大规模欧洲人群研究表明,欧洲内部存在人口遗传结构,并且当使用数十万遗传标记的信息时,可以准确推断个体的祖先。事实上,当欧洲人群的全基因组遗传变异被投射到二维主成分分析图上时,与自我报告的祖先的实际地理坐标之间存在惊人的相关性。这种亚结构可能会阻碍对常见复杂疾病的易感基因的搜索,从而导致虚假相关。因此,确定可以纠正人群分层的遗传标记变得至关重要。我们分析了来自 11 个群体的 1200 个人,这些个体的基因型超过 50 万个 SNP(人口参考样本),我们系统地探索了使用小面板 SNP 可以在多大程度上预测欧洲内部的起源地理坐标。我们选择与数据集的前几个主成分相关的标记,就像我们之前所证明的那样。通过进行彻底的交叉验证实验,我们表明,使用精心挑选的 500 或 1000 个 SNP 面板的信息,确实可以从实际个体起源的几百公里内预测欧洲个体的祖先。此外,我们表明,这些面板可用于正确地将 HapMap Phase 3 欧洲人群分配到其地理起源。我们提出的 SNP 可以在各种不同的环境中非常有用,例如分层校正或遗传祖先测试以及欧洲人群历史的研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a87e/2923600/ba47627564d1/pone.0011892.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a87e/2923600/858ab92a28c4/pone.0011892.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a87e/2923600/ba47627564d1/pone.0011892.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a87e/2923600/858ab92a28c4/pone.0011892.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a87e/2923600/ba47627564d1/pone.0011892.g002.jpg

相似文献

[1]
Inferring geographic coordinates of origin for Europeans using small panels of ancestry informative markers.

PLoS One. 2010-8-18

[2]
Tracing sub-structure in the European American population with PCA-informative markers.

PLoS Genet. 2008-7-4

[3]
Selecting SNPs informative for African, American Indian and European Ancestry: application to the Family Investigation of Nephropathy and Diabetes (FIND).

BMC Genomics. 2016-5-4

[4]
Analysis and application of European genetic substructure using 300 K SNP information.

PLoS Genet. 2008-1

[5]
European population genetic substructure: further definition of ancestry informative markers for distinguishing among diverse European ethnic groups.

Mol Med. 2009-8-27

[6]
Using ancestry-informative markers to identify fine structure across 15 populations of European origin.

Eur J Hum Genet. 2014-10

[7]
PCA-correlated SNPs for structure identification in worldwide human populations.

PLoS Genet. 2007-9

[8]
Tracing cattle breeds with principal components analysis ancestry informative SNPs.

PLoS One. 2011-4-7

[9]
ETHNOPRED: a novel machine learning method for accurate continental and sub-continental ancestry identification and population stratification correction.

BMC Bioinformatics. 2013-2-22

[10]
Genes mirror geography within Europe.

Nature. 2008-11-6

引用本文的文献

[1]
Genetic ancestry plays a central role in population pharmacogenomics.

Commun Biol. 2021-2-5

[2]
Integrating Linguistics, Social Structure, and Geography to Model Genetic Diversity within India.

Mol Biol Evol. 2021-5-4

[3]
MySeq: privacy-protecting browser-based personal Genome analysis for genomics education and exploration.

BMC Med Genomics. 2019-11-27

[4]
Assessment of whole-genome regression for type II diabetes.

PLoS One. 2015-4-17

[5]
Integrated genomic and BMI analysis for type 2 diabetes risk assessment.

Front Genet. 2015-3-17

[6]
Spatial localization of recent ancestors for admixed individuals.

G3 (Bethesda). 2014-11-3

[7]
Using ancestry-informative markers to identify fine structure across 15 populations of European origin.

Eur J Hum Genet. 2014-10

[8]
Heritability of pulmonary function estimated from pedigree and whole-genome markers.

Front Genet. 2013-9-9

[9]
Racial and ethnic health disparities in reproductive medicine: an evidence-based overview.

Semin Reprod Med. 2013-8-9

[10]
Inference of human continental origin and admixture proportions using a highly discriminative ancestry informative 41-SNP panel.

Investig Genet. 2013-7-1

本文引用的文献

[1]
The genetical structure of populations.

Ann Eugen. 1951-3

[2]
European population genetic substructure: further definition of ancestry informative markers for distinguishing among diverse European ethnic groups.

Mol Med. 2009-8-27

[3]
Genome-wide insights into the patterns and determinants of fine-scale population structure in humans.

Am J Hum Genet. 2009-5

[4]
Geographical structure and differential natural selection among North European populations.

Genome Res. 2009-5

[5]
Investigation of the fine structure of European populations with applications to disease association studies.

Eur J Hum Genet. 2008-12

[6]
Tracing sub-structure in the European American population with PCA-informative markers.

PLoS Genet. 2008-7-4

[7]
The Population Reference Sample, POPRES: a resource for population, disease, and pharmacological genetics research.

Am J Hum Genet. 2008-9

[8]
Genes mirror geography within Europe.

Nature. 2008-11-6

[9]
Correlation between genetic and geographic structure in Europe.

Curr Biol. 2008-8-26

[10]
Worldwide human relationships inferred from genome-wide patterns of variation.

Science. 2008-2-22

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索