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Genome-wide association study of preserved ratio impaired spirometry (PRISm).

The European respiratory journal | 2024

Preserved ratio impaired spirometry (PRISm) is defined as a forced expiratory volume in 1 s (FEV1) <80% predicted and FEV1/forced vital capacity ≥0.70. PRISm is associated with respiratory symptoms and comorbidities. Our objective was to discover novel genetic signals for PRISm and see if they provide insight into the pathogenesis of PRISm and associated comorbidities.

Pubmed ID: 38097206 RIS Download

Associated grants

  • Agency: NCATS NIH HHS, United States
    Id: UL1 TR001079
  • Agency: NHLBI NIH HHS, United States
    Id: U01 HL130114
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL087652
  • Agency: NIDDK NIH HHS, United States
    Id: P30 DK063491
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC95165
  • Agency: NHLBI NIH HHS, United States
    Id: 75N92020D00007
  • Agency: NHLBI NIH HHS, United States
    Id: HHSN268201500003I
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC85083
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC85081
  • Agency: NHLBI NIH HHS, United States
    Id: HHSN268201500003C
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL103612
  • Agency: NHLBI NIH HHS, United States
    Id: 75N92020D00002
  • Agency: Intramural NIH HHS, United States
    Id: Z01 CP010119
  • Agency: NHLBI NIH HHS, United States
    Id: 75N92020D00005
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC95160
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL120393
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC95163
  • Agency: NHLBI NIH HHS, United States
    Id: U01 HL080295
  • Agency: NHLBI NIH HHS, United States
    Id: HHSN268200800007C
  • Agency: NHLBI NIH HHS, United States
    Id: 75N92020D00001
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC95169
  • Agency: NHLBI NIH HHS, United States
    Id: U01 HL089897
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL077612
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL153248
  • Agency: Intramural NIH HHS, United States
    Id: Z01 ES049030
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC95164
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL089856
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC55222
  • Agency: NHLBI NIH HHS, United States
    Id: N02HL64278
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC95162
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC85086
  • Agency: NHLBI NIH HHS, United States
    Id: 75N92020D00003
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL093081
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL105756
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC95168
  • Agency: NHLBI NIH HHS, United States
    Id: U01 HL089856
  • Agency: NHLBI NIH HHS, United States
    Id: HHSN268201200036C
  • Agency: NHLBI NIH HHS, United States
    Id: HHSN268201800001C
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC95159
  • Agency: NIEHS NIH HHS, United States
    Id: N01ES55546
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC95161
  • Agency: NCATS NIH HHS, United States
    Id: UL1 TR001420
  • Agency: NHLBI NIH HHS, United States
    Id: 75N92020D00004
  • Agency: NHLBI NIH HHS, United States
    Id: 75N92021D00006
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC85082
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC95167
  • Agency: NCATS NIH HHS, United States
    Id: UL1 TR000040
  • Agency: Wellcome Trust, United Kingdom
  • Agency: NHLBI NIH HHS, United States
    Id: 75N92020D00006
  • Agency: Intramural NIH HHS, United States
    Id: Z01 ES043012
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC85079
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC95166
  • Agency: NIA NIH HHS, United States
    Id: R01 AG023629
  • Agency: NCATS NIH HHS, United States
    Id: UL1 TR001881
  • Agency: NHLBI NIH HHS, United States
    Id: N01HC85080

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This is a list of tools and resources that we have found mentioned in this publication.


PLINK (tool)

RRID:SCR_001757

Open source whole genome association analysis toolset, designed to perform range of basic, large scale analyses in computationally efficient manner. Used for analysis of genotype/phenotype data. Through integration with gPLINK and Haploview, there is some support for subsequent visualization, annotation and storage of results. PLINK 1.9 is improved and second generation of the software.

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R Project for Statistical Computing (tool)

RRID:SCR_001905

Software environment and programming language for statistical computing and graphics. R is integrated suite of software facilities for data manipulation, calculation and graphical display. Can be extended via packages. Some packages are supplied with the R distribution and more are available through CRAN family.It compiles and runs on wide variety of UNIX platforms, Windows and MacOS.

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WikiPathways (tool)

RRID:SCR_002134

Open and collaborative platform dedicated to curation of biological pathways. Each pathway has dedicated wiki page, displaying current diagram, description, references, download options, version history, and component gene and protein lists. Database of biological pathways maintained by and for scientific community.

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PRISM (tool)

RRID:SCR_005375

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on May 5,2022.Tool that predicts interactions between transcription factors and their regulated genes from binding motifs. Understanding vertebrate development requires unraveling the cis-regulatory architecture of gene regulation. PRISM provides accurate genome-wide computational predictions of transcription factor binding sites for the human and mouse genomes, and integrates the predictions with GREAT to provide functional biological context. Together, accurate computational binding site prediction and GREAT produce for each transcription factor: 1. putative binding sites, 2. putative target genes, 3. putative biological roles of the transcription factor, and 4. putative cis-regulatory elements through which the factor regulates each target in each functional role.

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HARDY (tool)

RRID:SCR_009107

Markov chain Monte Carlo program for association in two-dimensional contingency tables, and for testing Hardy-Weinberg equilibrium. (entry from Genetic Analysis Software)

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UK Biobank (tool)

RRID:SCR_012815

Biobank provides data collected at Assessment Center and via online questionnaires on participants aged 40-69 years recruited throughout United Kingdom and provides summary information to improve prevention, diagnosis and treatment of serious and life threatening illnesses.

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Functional Mapping and Annotation of Genome Wide Association Studies (tool)

RRID:SCR_017521

Platform that can be used to annotate, prioritize, visualize and interpret GWAS results. To submit your own GWAS, login is required for security reason. You can browse public results of FUMA from Browse Public Results without registration or login.

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GeneHancer (tool)

RRID:SCR_023953

Database of human regulatory elements like enhancers and promoters, and their inferred target genes which is embedded in GeneCards, human gene compendium. Associations between regulatory elements and target genes were based on multiple sources of linking molecular data, along with distance.

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