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Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants.

Publication ,  Journal Article
Zhao, X; Qiao, D; Yang, C; Kasela, S; Kim, W; Ma, Y; Shrine, N; Batini, C; Sofer, T; Taliun, SAG; Sakornsakolpat, P; Balte, PP; Prokopenko, D ...
Published in: Nat Commun
October 14, 2020

Chronic obstructive pulmonary disease (COPD), diagnosed by reduced lung function, is a leading cause of morbidity and mortality. We performed whole genome sequence (WGS) analysis of lung function and COPD in a multi-ethnic sample of 11,497 participants from population- and family-based studies, and 8499 individuals from COPD-enriched studies in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program. We identify at genome-wide significance 10 known GWAS loci and 22 distinct, previously unreported loci, including two common variant signals from stratified analysis of African Americans. Four novel common variants within the regions of PIAS1, RGN (two variants) and FTO show evidence of replication in the UK Biobank (European ancestry n ~ 320,000), while colocalization analyses leveraging multi-omic data from GTEx and TOPMed identify potential molecular mechanisms underlying four of the 22 novel loci. Our study demonstrates the value of performing WGS analyses and multi-omic follow-up in cohorts of diverse ancestry.

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Published In

Nat Commun

DOI

EISSN

2041-1723

Publication Date

October 14, 2020

Volume

11

Issue

1

Start / End Page

5182

Location

England

Related Subject Headings

  • Whole Genome Sequencing
  • Small Ubiquitin-Related Modifier Proteins
  • Respiratory Physiological Phenomena
  • Pulmonary Disease, Chronic Obstructive
  • Protein Inhibitors of Activated STAT
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Lung
  • Intracellular Signaling Peptides and Proteins
 

Citation

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Zhao, X., Qiao, D., Yang, C., Kasela, S., Kim, W., Ma, Y., … Manichaikul, A. (2020). Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants. Nat Commun, 11(1), 5182. https://doi.org/10.1038/s41467-020-18334-7
Zhao, Xutong, Dandi Qiao, Chaojie Yang, Silva Kasela, Wonji Kim, Yanlin Ma, Nick Shrine, et al. “Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants.Nat Commun 11, no. 1 (October 14, 2020): 5182. https://doi.org/10.1038/s41467-020-18334-7.
Zhao X, Qiao D, Yang C, Kasela S, Kim W, Ma Y, et al. Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants. Nat Commun. 2020 Oct 14;11(1):5182.
Zhao, Xutong, et al. “Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants.Nat Commun, vol. 11, no. 1, Oct. 2020, p. 5182. Pubmed, doi:10.1038/s41467-020-18334-7.
Zhao X, Qiao D, Yang C, Kasela S, Kim W, Ma Y, Shrine N, Batini C, Sofer T, Taliun SAG, Sakornsakolpat P, Balte PP, Prokopenko D, Yu B, Lange LA, Dupuis J, Cade BE, Lee J, Gharib SA, Daya M, Laurie CA, Ruczinski I, Cupples LA, Loehr LR, Bartz TM, Morrison AC, Psaty BM, Vasan RS, Wilson JG, Taylor KD, Durda P, Johnson WC, Cornell E, Guo X, Liu Y, Tracy RP, Ardlie KG, Aguet F, VanDenBerg DJ, Papanicolaou GJ, Rotter JI, Barnes KC, Jain D, Nickerson DA, Muzny DM, Metcalf GA, Doddapaneni H, Dugan-Perez S, Gupta N, Gabriel S, Rich SS, O’Connor GT, Redline S, Reed RM, Laurie CC, Daviglus ML, Preudhomme LK, Burkart KM, Kaplan RC, Wain LV, Tobin MD, London SJ, Lappalainen T, Oelsner EC, Abecasis GR, Silverman EK, Barr RG, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Lung Working Group, Cho MH, Manichaikul A. Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants. Nat Commun. 2020 Oct 14;11(1):5182.

Published In

Nat Commun

DOI

EISSN

2041-1723

Publication Date

October 14, 2020

Volume

11

Issue

1

Start / End Page

5182

Location

England

Related Subject Headings

  • Whole Genome Sequencing
  • Small Ubiquitin-Related Modifier Proteins
  • Respiratory Physiological Phenomena
  • Pulmonary Disease, Chronic Obstructive
  • Protein Inhibitors of Activated STAT
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Lung
  • Intracellular Signaling Peptides and Proteins