Common single nucleotide polymorphisms associated with idiopathic pulmonary fibrosis: a systematic review.

Humans Idiopathic Pulmonary Fibrosis / genetics Polymorphism, Single Nucleotide Genetic Predisposition to Disease Risk Factors Phenotype Genome-Wide Association Study Risk Assessment

Journal

European respiratory review : an official journal of the European Respiratory Society
ISSN: 1600-0617
Titre abrégé: Eur Respir Rev
Pays: England
ID NLM: 9111391

Informations de publication

Date de publication:
Jul 2024
Historique:
received: 30 01 2024
accepted: 18 06 2024
medline: 26 9 2024
pubmed: 26 9 2024
entrez: 25 9 2024
Statut: epublish

Résumé

Several genetic variants are associated with the risk of idiopathic pulmonary fibrosis (IPF). These have not been systematically reviewed. We searched the PubMed, Embase and GWAS Catalog databases for studies indexed between inception and 15 January 2024 describing genetic variants associated with IPF susceptibility. We included studies describing common associated single nucleotide polymorphisms (SNPs). We excluded studies describing rare variants, non-SNP variants and those without an allelic model analysis. We recorded study type, participant characteristics, genotyping methods, IPF diagnostic criteria, the SNPs and the respective genes, odds ratios, and other details. We also searched databases for functions of the identified genes. The primary search retrieved 2697 publications; we included 42 studies. There were nine genome-wide association/linkage studies, while 27 were candidate gene studies. The studies included 22-11 160 IPF subjects. 88 SNPs in 58 genes or loci were found associated with IPF susceptibility. Several common SNPs in over 50 genes have been found associated with IPF susceptibility. These variants may inform gene panels for future studies (PROSPERO CRD42023408912).

Sections du résumé

BACKGROUND BACKGROUND
Several genetic variants are associated with the risk of idiopathic pulmonary fibrosis (IPF). These have not been systematically reviewed.
METHODS METHODS
We searched the PubMed, Embase and GWAS Catalog databases for studies indexed between inception and 15 January 2024 describing genetic variants associated with IPF susceptibility. We included studies describing common associated single nucleotide polymorphisms (SNPs). We excluded studies describing rare variants, non-SNP variants and those without an allelic model analysis. We recorded study type, participant characteristics, genotyping methods, IPF diagnostic criteria, the SNPs and the respective genes, odds ratios, and other details. We also searched databases for functions of the identified genes.
RESULTS RESULTS
The primary search retrieved 2697 publications; we included 42 studies. There were nine genome-wide association/linkage studies, while 27 were candidate gene studies. The studies included 22-11 160 IPF subjects. 88 SNPs in 58 genes or loci were found associated with IPF susceptibility.
CONCLUSION CONCLUSIONS
Several common SNPs in over 50 genes have been found associated with IPF susceptibility. These variants may inform gene panels for future studies (PROSPERO CRD42023408912).

Identifiants

DOI: 10.1183/16000617.0018-2024 PMID: 39322261
pubmed: 39322261
pii: 33/173/240018
doi: 10.1183/16000617.0018-2024
pii:
doi:

Types de publication

Systematic Review Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Copyright ©The authors 2024.

Déclaration de conflit d'intérêts

Conflict of interest: All authors have nothing to disclose.

Auteurs

Sahajal Dhooria (S)

Department of Pulmonary Medicine, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India sahajal@gmail.com.
Both authors contributed equally and can be considered as first authors.
ORCID: 0000-0003-3199-9163

Riya Sharma (R)

Department of Pulmonary Medicine, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Both authors contributed equally and can be considered as first authors.

Amanjit Bal (A)

Department of Histopathology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
ORCID: 0000-0002-1457-8589

Inderpaul Singh Sehgal (IS)

Department of Pulmonary Medicine, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
ORCID: 0000-0002-6505-6019

Dharambir Kashyap (D)

Department of Histopathology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

Valliappan Muthu (V)

Department of Pulmonary Medicine, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

Kuruswamy Thurai Prasad (KT)

Department of Pulmonary Medicine, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

Ritesh Agarwal (R)

Department of Pulmonary Medicine, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

Ashutosh Nath Aggarwal (AN)

Department of Pulmonary Medicine, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Common single nucleotide polymorphisms...
questionsmedicales.fr › Maladies de l'appareil respiratoire › Maladies pulmonaires › Pneumopathies interstitielles › Fibrose pulmonaire idiopathique › Common single nucleotide polymorphisms...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Common single nucleotide polymorphisms...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Common single nucleotide polymorphisms...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Probabilité › Risque › Facteurs de risque › Common single nucleotide polymorphisms...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Common single nucleotide polymorphisms...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Common single nucleotide polymorphisms...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Probabilité › Risque › Appréciation des risques › Common single nucleotide polymorphisms...