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Investigating the genetic architecture of eye colour in a Canadian cohort
Eye color is highly variable in populations with European ancestry, ranging from low to high quantities of melanin in the iris. Polymorphisms in the HERC2/OCA2 locus have the largest effect on eye color in these populations, although other genomic regions also influence eye color. We performed genom...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9194134/ https://www.ncbi.nlm.nih.gov/pubmed/35712076 http://dx.doi.org/10.1016/j.isci.2022.104485 |
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author | Lona-Durazo, Frida Thakur, Rohit Pairo-Castineira, Erola Funderburk, Karen Zhang, Tongwu Kovacs, Michael A. Choi, Jiyeon Jackson, Ian J. Brown, Kevin M. Parra, Esteban J. |
author_facet | Lona-Durazo, Frida Thakur, Rohit Pairo-Castineira, Erola Funderburk, Karen Zhang, Tongwu Kovacs, Michael A. Choi, Jiyeon Jackson, Ian J. Brown, Kevin M. Parra, Esteban J. |
author_sort | Lona-Durazo, Frida |
collection | PubMed |
description | Eye color is highly variable in populations with European ancestry, ranging from low to high quantities of melanin in the iris. Polymorphisms in the HERC2/OCA2 locus have the largest effect on eye color in these populations, although other genomic regions also influence eye color. We performed genome-wide association studies of eye color in a Canadian cohort of European ancestry (N = 5,641) and investigated candidate causal variants. We uncovered several candidate causal signals in the HERC2/OCA2 region, whereas other loci likely harbor a single causal signal. We observed colocalization of eye color signals with the expression or methylation profiles of cultured primary melanocytes. Genetic correlations of eye and hair color suggest high genome-wide pleiotropy, but locus-level differences in the genetic architecture of both traits. Overall, we provide a better picture of the polymorphisms underpinning eye color variation, which may be a consequence of specific molecular processes in the iris melanocytes. |
format | Online Article Text |
id | pubmed-9194134 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-91941342022-06-15 Investigating the genetic architecture of eye colour in a Canadian cohort Lona-Durazo, Frida Thakur, Rohit Pairo-Castineira, Erola Funderburk, Karen Zhang, Tongwu Kovacs, Michael A. Choi, Jiyeon Jackson, Ian J. Brown, Kevin M. Parra, Esteban J. iScience Article Eye color is highly variable in populations with European ancestry, ranging from low to high quantities of melanin in the iris. Polymorphisms in the HERC2/OCA2 locus have the largest effect on eye color in these populations, although other genomic regions also influence eye color. We performed genome-wide association studies of eye color in a Canadian cohort of European ancestry (N = 5,641) and investigated candidate causal variants. We uncovered several candidate causal signals in the HERC2/OCA2 region, whereas other loci likely harbor a single causal signal. We observed colocalization of eye color signals with the expression or methylation profiles of cultured primary melanocytes. Genetic correlations of eye and hair color suggest high genome-wide pleiotropy, but locus-level differences in the genetic architecture of both traits. Overall, we provide a better picture of the polymorphisms underpinning eye color variation, which may be a consequence of specific molecular processes in the iris melanocytes. Elsevier 2022-05-30 /pmc/articles/PMC9194134/ /pubmed/35712076 http://dx.doi.org/10.1016/j.isci.2022.104485 Text en © 2022 The Author(s) https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Lona-Durazo, Frida Thakur, Rohit Pairo-Castineira, Erola Funderburk, Karen Zhang, Tongwu Kovacs, Michael A. Choi, Jiyeon Jackson, Ian J. Brown, Kevin M. Parra, Esteban J. Investigating the genetic architecture of eye colour in a Canadian cohort |
title | Investigating the genetic architecture of eye colour in a Canadian cohort |
title_full | Investigating the genetic architecture of eye colour in a Canadian cohort |
title_fullStr | Investigating the genetic architecture of eye colour in a Canadian cohort |
title_full_unstemmed | Investigating the genetic architecture of eye colour in a Canadian cohort |
title_short | Investigating the genetic architecture of eye colour in a Canadian cohort |
title_sort | investigating the genetic architecture of eye colour in a canadian cohort |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9194134/ https://www.ncbi.nlm.nih.gov/pubmed/35712076 http://dx.doi.org/10.1016/j.isci.2022.104485 |
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