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Genome-wide association study for genetic variants related with maximal voluntary ventilation reveals two novel genomic signals associated with lung function
Genome-wide association studies (GWAS) for spirometry parameters have been limited to forced vital capacity (FVC), forced expiratory volume in 1 second (FEV(1)), and their ratio. This study examined to identify genetic variants associated with maximal voluntary ventilation (MVV), an important spirom...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682835/ https://www.ncbi.nlm.nih.gov/pubmed/29095316 http://dx.doi.org/10.1097/MD.0000000000008530 |
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author | Suh, Yujin Lee, Chaeyoung |
author_facet | Suh, Yujin Lee, Chaeyoung |
author_sort | Suh, Yujin |
collection | PubMed |
description | Genome-wide association studies (GWAS) for spirometry parameters have been limited to forced vital capacity (FVC), forced expiratory volume in 1 second (FEV(1)), and their ratio. This study examined to identify genetic variants associated with maximal voluntary ventilation (MVV), an important spirometry parameter presenting inspiratory muscle strength. A total of 8842 Korean subjects participated in the Korean Association REsource Consortium were used to identify nucleotide variants associated with MVV and other spirometry parameters through a GWAS. Genetic associations were determined by employing a mixed model that can control background polygenic effects. The analysis revealed 3 nucleotide variants associated with MVV (P < 5 × 10(−8)). One (rs1496255) was also associated with FVC and FEV(1). The other 2 variants were identified only for MVV and located in the genes of LOC102724340 (rs41434646) and FHIT (rs9833533). In particular, FHIT represses transcriptional activity of β-catenin, a critical protein for growth of skeletal muscle, and thus might have influenced the level of MVV. The current study revealed 2 novel nucleotide variants as genetic association signals for MVV. The association signals were suggested specific for neuromuscular diseases with a restrictive ventilatory impairment. Further studies are required to understand underlying mechanisms for their influence to restrictive lung diseases. |
format | Online Article Text |
id | pubmed-5682835 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Wolters Kluwer Health |
record_format | MEDLINE/PubMed |
spelling | pubmed-56828352017-11-28 Genome-wide association study for genetic variants related with maximal voluntary ventilation reveals two novel genomic signals associated with lung function Suh, Yujin Lee, Chaeyoung Medicine (Baltimore) 3500 Genome-wide association studies (GWAS) for spirometry parameters have been limited to forced vital capacity (FVC), forced expiratory volume in 1 second (FEV(1)), and their ratio. This study examined to identify genetic variants associated with maximal voluntary ventilation (MVV), an important spirometry parameter presenting inspiratory muscle strength. A total of 8842 Korean subjects participated in the Korean Association REsource Consortium were used to identify nucleotide variants associated with MVV and other spirometry parameters through a GWAS. Genetic associations were determined by employing a mixed model that can control background polygenic effects. The analysis revealed 3 nucleotide variants associated with MVV (P < 5 × 10(−8)). One (rs1496255) was also associated with FVC and FEV(1). The other 2 variants were identified only for MVV and located in the genes of LOC102724340 (rs41434646) and FHIT (rs9833533). In particular, FHIT represses transcriptional activity of β-catenin, a critical protein for growth of skeletal muscle, and thus might have influenced the level of MVV. The current study revealed 2 novel nucleotide variants as genetic association signals for MVV. The association signals were suggested specific for neuromuscular diseases with a restrictive ventilatory impairment. Further studies are required to understand underlying mechanisms for their influence to restrictive lung diseases. Wolters Kluwer Health 2017-11-03 /pmc/articles/PMC5682835/ /pubmed/29095316 http://dx.doi.org/10.1097/MD.0000000000008530 Text en Copyright © 2017 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nd/4.0 This is an open access article distributed under the Creative Commons Attribution-NoDerivatives License 4.0, which allows for redistribution, commercial and non-commercial, as long as it is passed along unchanged and in whole, with credit to the author. http://creativecommons.org/licenses/by-nd/4.0 |
spellingShingle | 3500 Suh, Yujin Lee, Chaeyoung Genome-wide association study for genetic variants related with maximal voluntary ventilation reveals two novel genomic signals associated with lung function |
title | Genome-wide association study for genetic variants related with maximal voluntary ventilation reveals two novel genomic signals associated with lung function |
title_full | Genome-wide association study for genetic variants related with maximal voluntary ventilation reveals two novel genomic signals associated with lung function |
title_fullStr | Genome-wide association study for genetic variants related with maximal voluntary ventilation reveals two novel genomic signals associated with lung function |
title_full_unstemmed | Genome-wide association study for genetic variants related with maximal voluntary ventilation reveals two novel genomic signals associated with lung function |
title_short | Genome-wide association study for genetic variants related with maximal voluntary ventilation reveals two novel genomic signals associated with lung function |
title_sort | genome-wide association study for genetic variants related with maximal voluntary ventilation reveals two novel genomic signals associated with lung function |
topic | 3500 |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682835/ https://www.ncbi.nlm.nih.gov/pubmed/29095316 http://dx.doi.org/10.1097/MD.0000000000008530 |
work_keys_str_mv | AT suhyujin genomewideassociationstudyforgeneticvariantsrelatedwithmaximalvoluntaryventilationrevealstwonovelgenomicsignalsassociatedwithlungfunction AT leechaeyoung genomewideassociationstudyforgeneticvariantsrelatedwithmaximalvoluntaryventilationrevealstwonovelgenomicsignalsassociatedwithlungfunction |