An Overview of Strategies for Detecting Genotype-Phenotype Associations Across Ancestrally Diverse Populations

Genome-wide association studies (GWAS) have been very successful at identifying genetic variants influencing a large number of traits. Although the great majority of these studies have been performed in European-descent individuals, it has been recognised that including populations with differing an...

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Autores principales: Irving Simonin-Wilmer, Pedro Orozco-del-Pino, D. Timothy Bishop, Mark M. Iles, Carla Daniela Robles-Espinoza
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Publicado: Frontiers Media S.A. 2021
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Acceso en línea:https://doaj.org/article/e40ff356c7114bd7ab62378e5e23fdf2
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spelling oai:doaj.org-article:e40ff356c7114bd7ab62378e5e23fdf22021-11-05T11:17:37ZAn Overview of Strategies for Detecting Genotype-Phenotype Associations Across Ancestrally Diverse Populations1664-802110.3389/fgene.2021.703901https://doaj.org/article/e40ff356c7114bd7ab62378e5e23fdf22021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.703901/fullhttps://doaj.org/toc/1664-8021Genome-wide association studies (GWAS) have been very successful at identifying genetic variants influencing a large number of traits. Although the great majority of these studies have been performed in European-descent individuals, it has been recognised that including populations with differing ancestries enhances the potential for identifying causal SNPs due to their differing patterns of linkage disequilibrium. However, when individuals from distinct ethnicities are included in a GWAS, it is necessary to implement a number of control steps to ensure that the identified associations are real genotype-phenotype relationships. In this Review, we discuss the analyses that are required when performing multi-ethnic studies, including methods for determining ancestry at the global and local level for sample exclusion, controlling for ancestry in association testing, and post-GWAS interrogation methods such as genomic control and meta-analysis. We hope that this overview provides a primer for those researchers interested in including distinct populations in their studies.Irving Simonin-WilmerPedro Orozco-del-PinoD. Timothy BishopMark M. IlesCarla Daniela Robles-EspinozaCarla Daniela Robles-EspinozaFrontiers Media S.A.articleGWASadmixtureancestryPCAregressionGeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021)
institution DOAJ
collection DOAJ
language EN
topic GWAS
admixture
ancestry
PCA
regression
Genetics
QH426-470
spellingShingle GWAS
admixture
ancestry
PCA
regression
Genetics
QH426-470
Irving Simonin-Wilmer
Pedro Orozco-del-Pino
D. Timothy Bishop
Mark M. Iles
Carla Daniela Robles-Espinoza
Carla Daniela Robles-Espinoza
An Overview of Strategies for Detecting Genotype-Phenotype Associations Across Ancestrally Diverse Populations
description Genome-wide association studies (GWAS) have been very successful at identifying genetic variants influencing a large number of traits. Although the great majority of these studies have been performed in European-descent individuals, it has been recognised that including populations with differing ancestries enhances the potential for identifying causal SNPs due to their differing patterns of linkage disequilibrium. However, when individuals from distinct ethnicities are included in a GWAS, it is necessary to implement a number of control steps to ensure that the identified associations are real genotype-phenotype relationships. In this Review, we discuss the analyses that are required when performing multi-ethnic studies, including methods for determining ancestry at the global and local level for sample exclusion, controlling for ancestry in association testing, and post-GWAS interrogation methods such as genomic control and meta-analysis. We hope that this overview provides a primer for those researchers interested in including distinct populations in their studies.
format article
author Irving Simonin-Wilmer
Pedro Orozco-del-Pino
D. Timothy Bishop
Mark M. Iles
Carla Daniela Robles-Espinoza
Carla Daniela Robles-Espinoza
author_facet Irving Simonin-Wilmer
Pedro Orozco-del-Pino
D. Timothy Bishop
Mark M. Iles
Carla Daniela Robles-Espinoza
Carla Daniela Robles-Espinoza
author_sort Irving Simonin-Wilmer
title An Overview of Strategies for Detecting Genotype-Phenotype Associations Across Ancestrally Diverse Populations
title_short An Overview of Strategies for Detecting Genotype-Phenotype Associations Across Ancestrally Diverse Populations
title_full An Overview of Strategies for Detecting Genotype-Phenotype Associations Across Ancestrally Diverse Populations
title_fullStr An Overview of Strategies for Detecting Genotype-Phenotype Associations Across Ancestrally Diverse Populations
title_full_unstemmed An Overview of Strategies for Detecting Genotype-Phenotype Associations Across Ancestrally Diverse Populations
title_sort overview of strategies for detecting genotype-phenotype associations across ancestrally diverse populations
publisher Frontiers Media S.A.
publishDate 2021
url https://doaj.org/article/e40ff356c7114bd7ab62378e5e23fdf2
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