Genome-wide association study for genetic variants related with maximal voluntary ventilation reveals two novel genomic signals associated with lung function

Medicine
Yujin Suh, Chaeyoung Lee

Abstract

Genome-wide association studies (GWAS) for spirometry parameters have been limited to forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), 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). One (rs1496255) was also associated with FVC and FEV1. 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 neuromuscul...Continue Reading

References

Jan 1, 1994·Respiration; International Review of Thoracic Diseases·E García-PachónJ Sanchis
Jun 11, 2003·Chest·Debapriya Datta, Bimalin Lahiri
Aug 2, 2005·The European Respiratory Journal·M R MillerUNKNOWN ATS/ERS Task Force
Nov 3, 2005·The European Respiratory Journal·R PellegrinoJ Wanger
Nov 4, 2005·Bioinformatics·Nusrat Rabbee, Terence P Speed
Jan 27, 2006·American Journal of Physiology. Cell Physiology·Dustin D ArmstrongKaryn A Esser
Dec 14, 2007·Proceedings of the National Academy of Sciences of the United States of America·Jörg WeiskeOtmar Huber
Jul 4, 2008·Cell Cycle·Otmar Huber, Jörg Weiske
Dec 17, 2009·Nature Genetics·Emmanouela RepapiMartin D Tobin
Dec 2, 2010·The European Respiratory Journal·R P YoungG D Gamble
Dec 21, 2010·American Journal of Human Genetics·Jian YangPeter M Visscher
Feb 4, 2011·The Journal of Biological Chemistry·Paul Delgado-OlguínFélix Recillas-Targa
Feb 18, 2011·Current Opinion in Genetics & Development·Dale Dorsett
Sep 6, 2011·Nature Methods·Christoph LippertDavid Heckerman
Jan 10, 2013·Behavior Genetics·Terrie VasilopoulosKristen C Jacobson
Feb 5, 2013·Gastroenterology·Taeko K NoahNoah F Shroyer
Aug 13, 2013·The Journal of Allergy and Clinical Immunology·Tsung-Chieh YaoCarole Ober
Mar 29, 2014·Annals of the American Thoracic Society·Thomas Ferkol, Dean Schraufnagel
Dec 5, 2015·Nature Communications·María Soler ArtigasMartin D Tobin

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Citations

Jun 26, 2020·Frontiers in Physiology·Matías Otto-YáñezGuilherme Augusto de Freitas Fregonezi
Oct 14, 2020·Scientific Reports·Laura Florez-SampedroBarbro N Melgert

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Software Mentioned

IMPUTE
wide Complex Trait Analysis ( GCTA )

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