{
  "abstract": "The mechanisms underlying the development and severity of pulmonary hypertension (PH) in chronic obstructive pulmonary disease (COPD) and interstitial lung disease (ILD) remain poorly understood. To investigate the contribution of genetic factors, we performed targeted sequencing of PH-related genes in 63 patients with COPD, 51 with ILD, and 38 with idiopathic pulmonary arterial hypertension (IPAH), stratifying COPD and ILD patients according to PH severity, assessed by right heart catheterisation. Patients with ILD-associated PH harboured fewer genetic variants than those without PH, whereas an opposite trend was observed in COPD-associated PH. Variants of uncertain significance (VUS) in PAH-associated genes (BMPR2, BMPR1B) were identified in two out of 28 patients with severe COPD-PH and in one with nonsevere ILD-PH (SMAD9). VUS in extracellular matrix-related genes (THBS1, LOXL2) were also identified in four patients with severe COPD-PH, and in inflammatory-related genes (TNFAIP6) in two patients with ILD-PH. Pathogenic/likely pathogenic variants in PAH-associated genes were exclusive to IPAH. We conclude that there is limited genetic overlap between COPD-PH and ILD-PH, with a stronger genetic contribution to PH in COPD, particularly in its severe form, where a subset of patients carries VUS in PAH-associated genes or genes involved in vascular remodelling.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Pulmonary Medicine, Hospital Clinic-IDIBAPS, University of Barcelona, 08036 Barcelona, Spain",
    "Biomedical Research Networking Centre in Respiratory Diseases (CIBERES), 28029 Madrid, Spain",
    "Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and Fundació de Recerca Clínic Barcelona-Institut d’Investigacions Biomediques August Pi i Sunyer (FRCB-IDIBAPS), 08036 Barcelona, Spain",
    "Bioinformatics Platform, Biomedical Research Networking Centre in Hepatic and Digestive Disease (CIBEREHD), 28029 Madrid, Spain",
    "Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain",
    "ERN-LUNG (European Reference Network on Rare Respiratory Diseases), Villarroel 170, 08036 Barcelona, Spain",
    "Translational Research Group on Cardiovascular Respiratory Diseases (CAREs), Dr. Josep Trueta University Hospital de Girona, Avinguda de França, 17007 Girona, Spain",
    "Girona Biomedical Research Institute (IDIBGI-CERCA), Santa Caterina Hospital de Salt, 17190 Salt, Spain",
    "Department of Pulmonary Medicine, Hospital del Mar Research Institute, Department of Medicine and Life Sciences (MELIS), Universitat Pompeu Fabra (UPF), 08003 Barcelona, Spain",
    "Department of Pulmonary Medicine, Hospital Vall d’Hebron, 08035 Barcelona, Spain",
    "Department of Pulmonary Medicine, Hospital Universitari de Bellvitge, IDIBELL, University of Barcelona, Hospitalet de Llobregat, 08907 Barcelona, Spain",
    "Department of Pulmonary Medicine, Parc Taulí Hospital Universitari, Institut d’Investigació i Innovació Parc Taulí (I3PT-CERCA). Universitat Autònoma de Barcelona, 08208 Sabadell, Spain",
    "Department of Experimental Pathology, Institut d’Investigacions Biomèdiques de Barcelona (IIBB), CSIC-IDIBAPS, 08036 Barcelona, Spain"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 21,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Adelaida Bosacoma"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Agustín R. Garcia"
    },
    {
      "affs": [
        2
      ],
      "name": "Irene Madrigal",
      "orcid": "0000-0002-7229-1199"
    },
    {
      "affs": [
        3
      ],
      "name": "Juan-José Lozano",
      "orcid": "0000-0001-7613-3908"
    },
    {
      "affs": [
        3
      ],
      "name": "Julia Sidorova"
    },
    {
      "affs": [
        4
      ],
      "name": "Daniel Aguilar"
    },
    {
      "affs": [
        0,
        1,
        5
      ],
      "name": "Isabel Blanco",
      "orcid": "0000-0001-9452-3432"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Ylenia Roger"
    },
    {
      "affs": [
        0,
        1,
        6,
        7
      ],
      "name": "Olga Tura-Ceide"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Anna Sardiné-Rama",
      "orcid": "0000-0002-7192-0344"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Clara Martín-Ontiyuelo"
    },
    {
      "affs": [
        1,
        8
      ],
      "name": "Diego A. Rodríguez-Chiaradía",
      "orcid": "0000-0002-8566-4011"
    },
    {
      "affs": [
        1,
        5,
        9
      ],
      "name": "Manuel López-Meseguer",
      "orcid": "0000-0003-2650-9238"
    },
    {
      "affs": [
        0,
        1,
        5
      ],
      "name": "Fernanda Hernandez-Gonzalez",
      "orcid": "0000-0001-5113-4285"
    },
    {
      "affs": [
        10
      ],
      "name": "Jesús Ribas",
      "orcid": "0000-0001-7356-4307"
    },
    {
      "affs": [
        11
      ],
      "name": "Xavier Pomares",
      "orcid": "0000-0002-2783-414X"
    },
    {
      "affs": [
        1,
        10
      ],
      "name": "Salud Santos"
    },
    {
      "affs": [
        1,
        10
      ],
      "name": "María Molina-Molina"
    },
    {
      "affs": [
        0
      ],
      "name": "Rita Fernández-Hernández",
      "orcid": "0009-0006-6869-9016"
    },
    {
      "affs": [
        0,
        1,
        12
      ],
      "name": "Victor I. Peinado",
      "orcid": "0000-0001-9793-9433"
    },
    {
      "affs": [
        0,
        1,
        5
      ],
      "name": "Joan A. Barberà",
      "orcid": "0000-0003-1469-4990"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/5sb48fp0ajtjs.bib",
  "cited_by": 0,
  "doi": "10.3390/ijms27208992",
  "fulltext_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13704505/?tool=EBI",
  "id": "5sb48fp0ajtjs",
  "issns": [
    "1422-0067"
  ],
  "landing_url": "https://www.mdpi.com/1422-0067/27/20/8992",
  "language": "eng",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2740|Pulmonary Hypertension Research and Treatments"
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  ],
  "openalex": "W7221320461",
  "pdf_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13704505/pdf/?tool=EBI",
  "pmcid": "PMC13704505",
  "pmid": null,
  "published": "2026-10-01",
  "publisher": "MDPI AG",
  "ris": "https://research.draconitic.com/paper/5sb48fp0ajtjs.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:18:55Z",
      "native_id": "10.3390/ijms27208992",
      "source": "crossref",
      "url": "https://www.mdpi.com/1422-0067/27/20/8992"
    },
    {
      "first_seen": "2026-10-30T12:21:49Z",
      "native_id": "PMC:PMC13704505",
      "source": "europepmc",
      "url": "https://europepmc.org/article/PMC/PMC13704505"
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  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2740|Pulmonary Hypertension Research and Treatments",
      "subfield": "general"
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  ],
  "title": "Targeted DNA Sequencing Reveals Distinct Rare-Variant Profiles in Pulmonary Hypertension Associated with Chronic Lung Diseases",
  "title_text": "Targeted DNA Sequencing Reveals Distinct Rare-Variant Profiles in Pulmonary Hypertension Associated with Chronic Lung Diseases",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:21:49Z",
  "url": "https://research.draconitic.com/paper/5sb48fp0ajtjs",
  "venue": "International Journal of Molecular Sciences",
  "versions": []
}