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Examination of runs of homozygosity in relation to height in an endogamous Namibian population

OBJECTIVES: Height is a complex, highly heritable polygenic trait subject to both genetic composition and environmental influences. Recent studies suggest that a large proportion of height heritability is determined by the cumulative effect of many low allele frequency variants across the genome. Pr...

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Autores principales: Swinford, Natalie, Gallagher, Brenna, Sheehama, Jacob, Lin, Meng, Prall, Sean, Scelza, Brooke, Henn, Brenna M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9937629/
https://www.ncbi.nlm.nih.gov/pubmed/36790690
http://dx.doi.org/10.1002/ajpa.24660
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author Swinford, Natalie
Gallagher, Brenna
Sheehama, Jacob
Lin, Meng
Prall, Sean
Scelza, Brooke
Henn, Brenna M.
author_facet Swinford, Natalie
Gallagher, Brenna
Sheehama, Jacob
Lin, Meng
Prall, Sean
Scelza, Brooke
Henn, Brenna M.
author_sort Swinford, Natalie
collection PubMed
description OBJECTIVES: Height is a complex, highly heritable polygenic trait subject to both genetic composition and environmental influences. Recent studies suggest that a large proportion of height heritability is determined by the cumulative effect of many low allele frequency variants across the genome. Previous research has also identified an inverse relationship between height and runs of homozygosity (ROH); however, this has yet to be examined within African populations. We aim to identify this association within the Himba, an endogamous Namibian population who are recently bottlenecked, resulting in elevated haplotype sharing and increased homozygosity. MATERIALS AND METHODS: Here, we calculate the fraction of the genome composed of long runs of homozygosity (F (ROH)) in a sample of 245 adults and use mixed effects models to assess its effect on height. RESULTS: We find that Himba adults exhibit increased homozygosity. However, in contrast to previous studies in other populations, we do not find a significant effect of F (ROH) on height within the Himba. We further estimated heritability of height, noting both an enrichment of distant relatives and greater developmental homogeneity across households; we find that [Formula: see text] (SE ± 0.146), comparable to estimates reported in Europeans. DISCUSSION: Our results may be due to other environmental variables we were not able to include, measurement error, or low statistical power, but may also imply that phenotypic expression resulting from increased homozygosity may vary from population to population.
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spelling pubmed-99376292023-04-14 Examination of runs of homozygosity in relation to height in an endogamous Namibian population Swinford, Natalie Gallagher, Brenna Sheehama, Jacob Lin, Meng Prall, Sean Scelza, Brooke Henn, Brenna M. Am J Biol Anthropol Brief Communications OBJECTIVES: Height is a complex, highly heritable polygenic trait subject to both genetic composition and environmental influences. Recent studies suggest that a large proportion of height heritability is determined by the cumulative effect of many low allele frequency variants across the genome. Previous research has also identified an inverse relationship between height and runs of homozygosity (ROH); however, this has yet to be examined within African populations. We aim to identify this association within the Himba, an endogamous Namibian population who are recently bottlenecked, resulting in elevated haplotype sharing and increased homozygosity. MATERIALS AND METHODS: Here, we calculate the fraction of the genome composed of long runs of homozygosity (F (ROH)) in a sample of 245 adults and use mixed effects models to assess its effect on height. RESULTS: We find that Himba adults exhibit increased homozygosity. However, in contrast to previous studies in other populations, we do not find a significant effect of F (ROH) on height within the Himba. We further estimated heritability of height, noting both an enrichment of distant relatives and greater developmental homogeneity across households; we find that [Formula: see text] (SE ± 0.146), comparable to estimates reported in Europeans. DISCUSSION: Our results may be due to other environmental variables we were not able to include, measurement error, or low statistical power, but may also imply that phenotypic expression resulting from increased homozygosity may vary from population to population. John Wiley & Sons, Inc. 2022-11-20 2023-01 /pmc/articles/PMC9937629/ /pubmed/36790690 http://dx.doi.org/10.1002/ajpa.24660 Text en © 2022 The Authors. American Journal of Biological Anthropology published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Brief Communications
Swinford, Natalie
Gallagher, Brenna
Sheehama, Jacob
Lin, Meng
Prall, Sean
Scelza, Brooke
Henn, Brenna M.
Examination of runs of homozygosity in relation to height in an endogamous Namibian population
title Examination of runs of homozygosity in relation to height in an endogamous Namibian population
title_full Examination of runs of homozygosity in relation to height in an endogamous Namibian population
title_fullStr Examination of runs of homozygosity in relation to height in an endogamous Namibian population
title_full_unstemmed Examination of runs of homozygosity in relation to height in an endogamous Namibian population
title_short Examination of runs of homozygosity in relation to height in an endogamous Namibian population
title_sort examination of runs of homozygosity in relation to height in an endogamous namibian population
topic Brief Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9937629/
https://www.ncbi.nlm.nih.gov/pubmed/36790690
http://dx.doi.org/10.1002/ajpa.24660
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