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Analysis of GWAS-nominated loci for lung cancer and COPD revealed a new asthma locus

Madore Anne-Marie, Bossé Yohan, Margaritte-Jeannin Patricia, Vucic Emily, Lam Wan L., Bouzigon Emmanuelle, Bourbeau Jean et Laprise Catherine. (2022). Analysis of GWAS-nominated loci for lung cancer and COPD revealed a new asthma locus. BMC Pulmonary Medicine, 22, e155.

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URL officielle: http://dx.doi.org/doi:10.1186/s12890-022-01890-7

Résumé

Background: Asthma, lung cancer (LC) and chronic obstructive pulmonary disease (COPD) are three respiratory diseases characterized by complex mechanisms underlying and genetic predispositions, with asthma having the highest calculated heritability. Despite efforts deployed in the last decades, only a small part of its heritability has been elucidated. It was hypothesized that shared genetic factors by these three diseases could help identify new asthma loci.

Methods: GWAS-nominated LC and COPD loci were selected among studies performed in Caucasian cohorts using the GWAS Catalog. Genetic analyses were carried out for these loci in the Saguenay–Lac-Saint-Jean (SLSJ) asthma familial cohort and then replicated in two independent cohorts (the Canadian Cohort Obstructive Lung Disease [CanCOLD] and the Epidemiological Study of the Genetics and Environment of Asthma [EGEA]).

Results: Analyses in the SLSJ cohort identified 2851 and 4702 genetic variants to be replicated in the CanCOLD and EGEA cohorts for LC and COPD loci respectively. Replication and meta-analyses allowed the association of one new locus with asthma, 2p24.3, from COPD studies. None was associated from LC studies reported.

Conclusions: The approach used in this study contributed to better understand the heritability of asthma with shared genetic backgrounds of respiratory diseases.

Type de document:Article publié dans une revue avec comité d'évaluation
ISSN:1471-2466
Volume:22
Pages:e155
Version évaluée par les pairs:Oui
Date:2022
Identifiant unique:10.1186/s12890-022-01890-7
Sujets:Sciences de la santé > Sciences médicales > Biologie moléculaire
Sciences de la santé > Sciences médicales > Génétique
Sciences de la santé > Sciences médicales > Oncologie
Département, module, service et unité de recherche:Départements et modules > Département des sciences fondamentales
Mots-clés:Asthma, COPD, lung cancer, genetics, 2p24.3, MYCN
Déposé le:09 mai 2022 18:43
Dernière modification:09 mai 2022 18:43
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