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

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 Eu...

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Main Authors: Chao Tian, Robert M Plenge, Michael Ransom, Annette Lee, Pablo Villoslada, Carlo Selmi, Lars Klareskog, Ann E Pulver, Lihong Qi, Peter K Gregersen, Michael F Seldin
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2008-01-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC2211544?pdf=render
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author Chao Tian
Robert M Plenge
Michael Ransom
Annette Lee
Pablo Villoslada
Carlo Selmi
Lars Klareskog
Ann E Pulver
Lihong Qi
Peter K Gregersen
Michael F Seldin
author_facet Chao Tian
Robert M Plenge
Michael Ransom
Annette Lee
Pablo Villoslada
Carlo Selmi
Lars Klareskog
Ann E Pulver
Lihong Qi
Peter K Gregersen
Michael F Seldin
author_sort Chao Tian
collection DOAJ
description 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.
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spelling doaj.art-0362b8af7f65446487cb3831824d76f02022-12-22T00:34:09ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042008-01-0141e410.1371/journal.pgen.0040004Analysis and application of European genetic substructure using 300 K SNP information.Chao TianRobert M PlengeMichael RansomAnnette LeePablo VillosladaCarlo SelmiLars KlareskogAnn E PulverLihong QiPeter K GregersenMichael F SeldinEuropean 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.http://europepmc.org/articles/PMC2211544?pdf=render
spellingShingle Chao Tian
Robert M Plenge
Michael Ransom
Annette Lee
Pablo Villoslada
Carlo Selmi
Lars Klareskog
Ann E Pulver
Lihong Qi
Peter K Gregersen
Michael F Seldin
Analysis and application of European genetic substructure using 300 K SNP information.
PLoS Genetics
title Analysis and application of European genetic substructure using 300 K SNP information.
title_full Analysis and application of European genetic substructure using 300 K SNP information.
title_fullStr Analysis and application of European genetic substructure using 300 K SNP information.
title_full_unstemmed Analysis and application of European genetic substructure using 300 K SNP information.
title_short Analysis and application of European genetic substructure using 300 K SNP information.
title_sort analysis and application of european genetic substructure using 300 k snp information
url http://europepmc.org/articles/PMC2211544?pdf=render
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