Description and first insights on a large genomic biobank of lung transplantation

The main limitation to long-term lung transplant (LT) survival is chronic lung allograft dysfunction (CLAD), which leads to irreversible lung damage and significant mortality. Individual factors can impact CLAD, but no large genetic investigation has been conducted to date. We established the multicentric Genetic COhort in Lung Transplantation (GenCOLT) biobank from a rich and homogeneous sub-part of COLT cohort. GenCOLT collected DNA, high-quality GWAS (genome-wide association study) genotyping and robust HLA data for donors and recipients to supplement COLT clinical data. GenCOLT closely mirrors the global COLT cohort without significant variations in variables like demographics, initial disease and survival rates (P > 0.05). The GenCOLT donors were 45 years-old on average, 44% women, and primarily died of stroke (54%). The recipients were 48 years-old at transplantation on average, 45% women, and the main underlying disease was chronic obstructive pulmonary disease (45%). The mean follow-up time was 67 months and survival at 5 years was 57.3% for the CLAD subgroup and 97.4% for the non-CLAD subgroup. After stringent quality controls, GenCOLT gathered more than 7.3 million SNP and HLA genotypes for 387 LT pairs, including 91% pairs composed of donor and recipient of European ancestry. Overall, GenCOLT is an accurate snapshot of LT clinical practice in France and Belgium between 2009 and 2018. It currently represents one of the largest genetic biobanks dedicated to LT with data available simultaneously for donors and recipients. This unique cohort will empower to run comprehensive GWAS investigations of CLAD and other LT outcomes.

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Publication Details

Journal
European Journal of Human Genetics
Published
2024-08-20
DOI
https://doi.org/10.1038/s41431-024-01683-y
Citations
3
Primary Topic
Transplantation: Methods and Outcomes
Type
article
Field-Weighted Citation Impact
1.72

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article

Description and first insights on a large genomic biobank of lung transplantation

Jérôme Le Pavec, Loïc Falque, Thomas Villeneuve, Benjamin Coiffard et al.
3 citations
European Journal of Human Genetics
Transplantation: Methods and Outcomes
1.72
article

Description and first insights on a large genomic biobank of lung transplantation

Jérôme Le Pavec, Loïc Falque, Thomas Villeneuve, Benjamin Coiffard, Benjamin Renaud‐Picard, Xavier Demant, Pierre‐Antoine Gourraud, Nayane dos Santos Brito Silva, V. Boussaud, Vincent Mauduit, Adrien Tissot, Mathilde Salpin, Olivia Rousseau, A. Magnan, Axelle Durand, Sophie Limou, Mario Südholt, Nicolas Vince, Simon Brocard, Antoine Roux, Christiane Knoop, Jean‐François Mornex, Martin Morin
article en
3 citations

Abstract

The main limitation to long-term lung transplant (LT) survival is chronic lung allograft dysfunction (CLAD), which leads to irreversible lung damage and significant mortality. Individual factors can impact CLAD, but no large genetic investigation has been conducted to date. We established the multicentric Genetic COhort in Lung Transplantation (GenCOLT) biobank from a rich and homogeneous sub-part of COLT cohort. GenCOLT collected DNA, high-quality GWAS (genome-wide association study) genotyping and robust HLA data for donors and recipients to supplement COLT clinical data. GenCOLT closely mirrors the global COLT cohort without significant variations in variables like demographics, initial disease and survival rates (P > 0.05). The GenCOLT donors were 45 years-old on average, 44% women, and primarily died of stroke (54%). The recipients were 48 years-old at transplantation on average, 45% women, and the main underlying disease was chronic obstructive pulmonary disease (45%). The mean follow-up time was 67 months and survival at 5 years was 57.3% for the CLAD subgroup and 97.4% for the non-CLAD subgroup. After stringent quality controls, GenCOLT gathered more than 7.3 million SNP and HLA genotypes for 387 LT pairs, including 91% pairs composed of donor and recipient of European ancestry. Overall, GenCOLT is an accurate snapshot of LT clinical practice in France and Belgium between 2009 and 2018. It currently represents one of the largest genetic biobanks dedicated to LT with data available simultaneously for donors and recipients. This unique cohort will empower to run comprehensive GWAS investigations of CLAD and other LT outcomes.

European Journal of Human GeneticsVol. 33(3)
École Centrale de Nantes (FR), Université Claude Bernard Lyon 1 (FR), Université Paris-Sud (FR), Université Toulouse III - Paul Sabatier (FR), Inserm (FR), École Pratique des Hautes Études (FR), Université Paris Cité (FR), Université Paris-Saclay (FR), Centre Hospitalier Universitaire de Grenoble (FR), Erasmus Hospital (BE), Centre Hospitalier Universitaire de Bordeaux (FR), Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement (FR), Sorbonne Paris Cité (FR), Hôpital Cochin (FR), Assistance Publique – Hôpitaux de Paris (FR), Hospices Civils de Lyon (FR), Institut de Transplantation Urologie en Nephrologie (FR), Hôpital Nord (FR), Laboratoire des Sciences du Numérique de Nantes (FR), Hôpital Marie Lannelongue (FR), IMT Atlantique (FR), Hôpital Bichat-Claude-Bernard (FR), Hôpitaux Universitaires de Strasbourg (FR), Hôpital Foch (FR), Center for Research in Transplantation and Translational Immunology, Université de Strasbourg (FR), Universidade Estadual Paulista (Unesp) (BR), Nantes Université (FR)
Agence Nationale de la Recherche
Good health and well-being
Openalex Percentile: Top 15%
Transplantation: Methods and Outcomes
1.72
DOIOpen Access PDFOpenAlex
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