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Heritability of pulmonary function estimated from pedigree and whole-genome markers

Asthma and chronic obstructive pulmonary disease (COPD) are major worldwide health problems. Pulmonary function testing is a useful diagnostic tool for these diseases, and is known to be influenced by genetic and environmental factors. Previous studies have demonstrated that a substantial proportion...

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Autores principales: Klimentidis, Yann C., Vazquez, Ana I., de los Campos, Gustavo, Allison, David B., Dransfield, Mark T., Thannickal, Victor J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766834/
https://www.ncbi.nlm.nih.gov/pubmed/24058366
http://dx.doi.org/10.3389/fgene.2013.00174
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author Klimentidis, Yann C.
Vazquez, Ana I.
de los Campos, Gustavo
Allison, David B.
Dransfield, Mark T.
Thannickal, Victor J.
author_facet Klimentidis, Yann C.
Vazquez, Ana I.
de los Campos, Gustavo
Allison, David B.
Dransfield, Mark T.
Thannickal, Victor J.
author_sort Klimentidis, Yann C.
collection PubMed
description Asthma and chronic obstructive pulmonary disease (COPD) are major worldwide health problems. Pulmonary function testing is a useful diagnostic tool for these diseases, and is known to be influenced by genetic and environmental factors. Previous studies have demonstrated that a substantial proportion of the variation in pulmonary function phenotypes can be explained by familial relationships. The availability of whole-genome single nucleotide polymorphism (SNP) data enables us to further evaluate the extent to which genetic factors account for variation in pulmonary function and to compare pedigree- to SNP-based estimates of heritability. Here, we employ methods developed in the animal breeding field to estimate the heritability of forced expiratory volume in one second (FEV(1)), forced vital capacity (FVC), and the ratio of these two measures (FEV(1)/FVC) among subjects in the Framingham Heart Study dataset. We compare heritability estimates based on pedigree-based relationships to those based on genome-wide SNPs. We find that, in a family-based study, estimates of heritability using SNP data are nearly identical to estimates based on pedigree information, and range from 0.50 for FEV(1) to 0.66 for FEV(1)/FVC. Therefore, we conclude that genetic factors account for a sizable proportion of inter-individual differences in pulmonary function, and that estimates of heritability based on SNP data are nearly identical to estimates based on pedigree data. Finally, our findings suggest a higher heritability for FEV(1)/FVC compared to either FEV(1) or FVC.
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spelling pubmed-37668342013-09-20 Heritability of pulmonary function estimated from pedigree and whole-genome markers Klimentidis, Yann C. Vazquez, Ana I. de los Campos, Gustavo Allison, David B. Dransfield, Mark T. Thannickal, Victor J. Front Genet Genetics Asthma and chronic obstructive pulmonary disease (COPD) are major worldwide health problems. Pulmonary function testing is a useful diagnostic tool for these diseases, and is known to be influenced by genetic and environmental factors. Previous studies have demonstrated that a substantial proportion of the variation in pulmonary function phenotypes can be explained by familial relationships. The availability of whole-genome single nucleotide polymorphism (SNP) data enables us to further evaluate the extent to which genetic factors account for variation in pulmonary function and to compare pedigree- to SNP-based estimates of heritability. Here, we employ methods developed in the animal breeding field to estimate the heritability of forced expiratory volume in one second (FEV(1)), forced vital capacity (FVC), and the ratio of these two measures (FEV(1)/FVC) among subjects in the Framingham Heart Study dataset. We compare heritability estimates based on pedigree-based relationships to those based on genome-wide SNPs. We find that, in a family-based study, estimates of heritability using SNP data are nearly identical to estimates based on pedigree information, and range from 0.50 for FEV(1) to 0.66 for FEV(1)/FVC. Therefore, we conclude that genetic factors account for a sizable proportion of inter-individual differences in pulmonary function, and that estimates of heritability based on SNP data are nearly identical to estimates based on pedigree data. Finally, our findings suggest a higher heritability for FEV(1)/FVC compared to either FEV(1) or FVC. Frontiers Media S.A. 2013-09-09 /pmc/articles/PMC3766834/ /pubmed/24058366 http://dx.doi.org/10.3389/fgene.2013.00174 Text en Copyright © 2013 Klimentidis, Vazquez, de los Campos, Allison, Dransfield and Thannickal. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Klimentidis, Yann C.
Vazquez, Ana I.
de los Campos, Gustavo
Allison, David B.
Dransfield, Mark T.
Thannickal, Victor J.
Heritability of pulmonary function estimated from pedigree and whole-genome markers
title Heritability of pulmonary function estimated from pedigree and whole-genome markers
title_full Heritability of pulmonary function estimated from pedigree and whole-genome markers
title_fullStr Heritability of pulmonary function estimated from pedigree and whole-genome markers
title_full_unstemmed Heritability of pulmonary function estimated from pedigree and whole-genome markers
title_short Heritability of pulmonary function estimated from pedigree and whole-genome markers
title_sort heritability of pulmonary function estimated from pedigree and whole-genome markers
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766834/
https://www.ncbi.nlm.nih.gov/pubmed/24058366
http://dx.doi.org/10.3389/fgene.2013.00174
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