Suppr超能文献

利用30万单核苷酸多态性信息对欧洲遗传亚结构进行分析与应用

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

作者信息

Tian Chao, Plenge Robert M, Ransom Michael, Lee Annette, Villoslada Pablo, Selmi Carlo, Klareskog Lars, Pulver Ann E, Qi Lihong, Gregersen Peter K, Seldin Michael F

机构信息

Rowe Program in Human Genetics, University of California Davis, Davis, California, United States of America.

出版信息

PLoS Genet. 2008 Jan;4(1):e4. doi: 10.1371/journal.pgen.0040004.

Abstract

European population genetic substructure was examined in a diverse set of >1,000 individuals of European descent, each genotyped with >300 K SNPs. Both STRUCTURE and principal component analyses (PCA) showed the largest division/principal component (PC) differentiated northern from southern European ancestry. A second PC further separated Italian, Spanish, and Greek individuals from those of Ashkenazi Jewish ancestry as well as distinguishing among northern European populations. In separate analyses of northern European participants other substructure relationships were discerned showing a west to east gradient. Application of this substructure information was critical in examining a real dataset in whole genome association (WGA) analyses for rheumatoid arthritis in European Americans to reduce false positive signals. In addition, two sets of European substructure ancestry informative markers (ESAIMs) were identified that provide substantial substructure information. The results provide further insight into European population genetic substructure and show that this information can be used for improving error rates in association testing of candidate genes and in replication studies of WGA scans.

摘要

在一组超过1000名欧洲裔个体中研究了欧洲人群遗传亚结构,每个个体均采用超过30万个单核苷酸多态性(SNP)进行基因分型。结构分析(STRUCTURE)和主成分分析(PCA)均显示,最大的分类/主成分(PC)将北欧血统与南欧血统区分开来。第二主成分进一步将意大利、西班牙和希腊个体与阿什肯纳兹犹太血统个体区分开来,并区分了北欧人群。在对北欧参与者的单独分析中,发现了其他亚结构关系,呈现出从西到东的梯度。在对欧裔美国人类风湿关节炎全基因组关联(WGA)分析的真实数据集进行检查时,应用这种亚结构信息对于减少假阳性信号至关重要。此外,还鉴定出两组欧洲亚结构祖先信息标记(ESAIM),它们提供了大量的亚结构信息。这些结果为欧洲人群遗传亚结构提供了进一步的见解,并表明该信息可用于提高候选基因关联测试和WGA扫描重复研究中的错误率。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8919/2213697/09e8e05c1b36/pgen.0040004.g001.jpg

相似文献

1
Analysis and application of European genetic substructure using 300 K SNP information.
PLoS Genet. 2008 Jan;4(1):e4. doi: 10.1371/journal.pgen.0040004.
2
European population substructure: clustering of northern and southern populations.
PLoS Genet. 2006 Sep 15;2(9):e143. doi: 10.1371/journal.pgen.0020143. Epub 2006 Jul 25.
4
Discerning the ancestry of European Americans in genetic association studies.
PLoS Genet. 2008 Jan;4(1):e236. doi: 10.1371/journal.pgen.0030236. Epub 2007 Nov 19.
5
Application of ancestry informative markers to association studies in European Americans.
PLoS Genet. 2008 Jan;4(1):e5. doi: 10.1371/journal.pgen.0040005.
7
Tracing sub-structure in the European American population with PCA-informative markers.
PLoS Genet. 2008 Jul 4;4(7):e1000114. doi: 10.1371/journal.pgen.1000114.
10
Using ancestry-informative markers to identify fine structure across 15 populations of European origin.
Eur J Hum Genet. 2014 Oct;22(10):1190-200. doi: 10.1038/ejhg.2014.1. Epub 2014 Feb 19.

引用本文的文献

1
A probabilistic approach to visualize the effect of missing data on PCA in ancient human genomics.
BMC Genomics. 2025 May 27;26(1):537. doi: 10.1186/s12864-025-11728-1.
2
Adjusting for principal components can induce collider bias in genome-wide association studies.
PLoS Genet. 2024 Dec 16;20(12):e1011242. doi: 10.1371/journal.pgen.1011242. eCollection 2024 Dec.
3
Advancing equine genomics: the development of a high density Axiom_Ashwa SNP chip for Indian horses and ponies.
Funct Integr Genomics. 2024 Oct 23;24(6):195. doi: 10.1007/s10142-024-01482-0.
5
Fine mapping of the Cepaea nemoralis shell colour and mid-banded loci using a high-density linkage map.
Heredity (Edinb). 2023 Dec;131(5-6):327-337. doi: 10.1038/s41437-023-00648-z. Epub 2023 Sep 27.
7
The TRIB3 R84 variant is associated with increased left ventricular mass in a sample of 2426 White individuals.
Cardiovasc Diabetol. 2021 May 29;20(1):115. doi: 10.1186/s12933-021-01308-4.
8
Genetic ancestry plays a central role in population pharmacogenomics.
Commun Biol. 2021 Feb 5;4(1):171. doi: 10.1038/s42003-021-01681-6.
9
Differential admixture in Latin American populations and its impact on the study of colorectal cancer.
Genet Mol Biol. 2020 Nov 13;43(4):e20200143. doi: 10.1590/1678-4685-GMB-2020-0143. eCollection 2020.
10
PCAmatchR: a flexible R package for optimal case-control matching using weighted principal components.
Bioinformatics. 2021 May 23;37(8):1178-1181. doi: 10.1093/bioinformatics/btaa784.

本文引用的文献

1
ESTIMATING F-STATISTICS FOR THE ANALYSIS OF POPULATION STRUCTURE.
Evolution. 1984 Nov;38(6):1358-1370. doi: 10.1111/j.1558-5646.1984.tb05657.x.
2
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.
N Engl J Med. 2007 Sep 20;357(12):1199-209. doi: 10.1056/NEJMoa073491. Epub 2007 Sep 5.
3
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Am J Hum Genet. 2007 Sep;81(3):559-75. doi: 10.1086/519795. Epub 2007 Jul 25.
5
Measuring European population stratification with microarray genotype data.
Am J Hum Genet. 2007 May;80(5):948-56. doi: 10.1086/513477. Epub 2007 Mar 22.
6
A simple and improved correction for population stratification in case-control studies.
Am J Hum Genet. 2007 May;80(5):921-30. doi: 10.1086/516842. Epub 2007 Mar 29.
7
Population structure and eigenanalysis.
PLoS Genet. 2006 Dec;2(12):e190. doi: 10.1371/journal.pgen.0020190.
8
IFN regulatory factor 4 and 8 promote Ig light chain kappa locus activation in pre-B cell development.
J Immunol. 2006 Dec 1;177(11):7898-904. doi: 10.4049/jimmunol.177.11.7898.
9
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.
Science. 2006 Dec 1;314(5804):1461-3. doi: 10.1126/science.1135245. Epub 2006 Oct 26.
10
European population substructure: clustering of northern and southern populations.
PLoS Genet. 2006 Sep 15;2(9):e143. doi: 10.1371/journal.pgen.0020143. Epub 2006 Jul 25.

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

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验