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Cabildo Insular de Tenerife","award":["18_A01"],"award-info":[{"award-number":["18_A01"]}]},{"name":"Instituto Tecnol\u00f3gico y de Energ\u00edas Renovables (ITER)","award":["RTC-2017-6471-1"],"award-info":[{"award-number":["RTC-2017-6471-1"]}]},{"name":"Instituto Tecnol\u00f3gico y de Energ\u00edas Renovables (ITER)","award":["CGIEU0000219140"],"award-info":[{"award-number":["CGIEU0000219140"]}]},{"name":"Instituto Tecnol\u00f3gico y de Energ\u00edas Renovables (ITER)","award":["OA17\/008"],"award-info":[{"award-number":["OA17\/008"]}]},{"name":"Instituto Tecnol\u00f3gico y de Energ\u00edas Renovables (ITER)","award":["OA23\/043"],"award-info":[{"award-number":["OA23\/043"]}]},{"name":"Instituto Tecnol\u00f3gico y de Energ\u00edas Renovables (ITER)","award":["PIFIISC19\/48"],"award-info":[{"award-number":["PIFIISC19\/48"]}]},{"name":"Instituto Tecnol\u00f3gico y de Energ\u00edas Renovables (ITER)","award":["18_A01"],"award-info":[{"award-number":["18_A01"]}]},{"name":"Fundaci\u00f3n Canaria Instituto de Investigaci\u00f3n Sanitaria de Canarias","award":["RTC-2017-6471-1"],"award-info":[{"award-number":["RTC-2017-6471-1"]}]},{"name":"Fundaci\u00f3n Canaria Instituto de Investigaci\u00f3n Sanitaria de Canarias","award":["CGIEU0000219140"],"award-info":[{"award-number":["CGIEU0000219140"]}]},{"name":"Fundaci\u00f3n Canaria Instituto de Investigaci\u00f3n Sanitaria de Canarias","award":["OA17\/008"],"award-info":[{"award-number":["OA17\/008"]}]},{"name":"Fundaci\u00f3n Canaria Instituto de Investigaci\u00f3n Sanitaria de Canarias","award":["OA23\/043"],"award-info":[{"award-number":["OA23\/043"]}]},{"name":"Fundaci\u00f3n Canaria Instituto de Investigaci\u00f3n Sanitaria de Canarias","award":["PIFIISC19\/48"],"award-info":[{"award-number":["PIFIISC19\/48"]}]},{"name":"Fundaci\u00f3n Canaria Instituto de Investigaci\u00f3n Sanitaria de Canarias","award":["18_A01"],"award-info":[{"award-number":["18_A01"]}]},{"name":"Spanish Society of Allergy and Clinical Immunology Foundation","award":["RTC-2017-6471-1"],"award-info":[{"award-number":["RTC-2017-6471-1"]}]},{"name":"Spanish Society of Allergy and Clinical Immunology Foundation","award":["CGIEU0000219140"],"award-info":[{"award-number":["CGIEU0000219140"]}]},{"name":"Spanish Society of Allergy and Clinical Immunology Foundation","award":["OA17\/008"],"award-info":[{"award-number":["OA17\/008"]}]},{"name":"Spanish Society of Allergy and Clinical Immunology Foundation","award":["OA23\/043"],"award-info":[{"award-number":["OA23\/043"]}]},{"name":"Spanish Society of Allergy and Clinical Immunology Foundation","award":["PIFIISC19\/48"],"award-info":[{"award-number":["PIFIISC19\/48"]}]},{"name":"Spanish Society of Allergy and Clinical Immunology Foundation","award":["18_A01"],"award-info":[{"award-number":["18_A01"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background and Objectives: One of the most common causes of drug-induced angioedema (AE-DI) is related to reduced bradykinin breakdown after the use of certain medications. This is the case for forms of AE-DI due to the use of angiotensin-converting enzyme inhibitors (ACEi), which are used for the treatment of cardiovascular conditions. The causes of AE are not clear in these patients. Given the limited number of AE-ACEi genetic loci identified by genome-wide association studies, we opted to assess the utility of NGS of a panel of relevant genes to identify candidate genetic risk factors in severely affected patients. Methods: Five hypertensive patients from unrelated families with clinical AE-ACEi were included in the study. Whole-exome sequencing, variant calling, and annotation techniques were used. ANNOVAR v18.04.16 was used to annotate the variant calls. The resulting variants for each patient were assessed using the Hereditary Angioedema Database Annotation tool and Franklin genomic platform for variant prioritization and clinical impact interpretation. Results: The genetic variant rs6025 in the F5 gene was identified in all recruited samples, which has been associated with an increase in blood clotting in AE-ACEi patients. In two patients, a common synonymous genetic variant of the ACE gene was found (rs4343). Finally, we identified the ACE genetic variant rs142947404 in only one patient. This variant has not been assessed in AE-ACEi. Conclusions: More studies will be needed to clarify the genetics involved in AE-DI. In this way, we will be able to try to predict future episodes of angioedema due to the use of ACEi.<\/jats:p>","DOI":"10.3390\/jcm14051659","type":"journal-article","created":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T08:05:54Z","timestamp":1740729954000},"page":"1659","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Whole Exome Sequencing in Drug-Induced Angioedema Caused by Angiotensin-Converting Enzyme Inhibitors: A Pilot Study in Five Patients"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2283-7923","authenticated-orcid":false,"given":"Alejandro","family":"Mendoza-Alvarez","sequence":"first","affiliation":[{"name":"Research Unit, Hospital Universitario Ntra. Se\u00f1ora de Candelaria, Instituto de Investigaci\u00f3n Sanitaria de Canarias, 38010 Santa Cruz de Tenerife, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan-Antonio","family":"Martinez-Tadeo","sequence":"additional","affiliation":[{"name":"Allergy Service, Hospital Universitario Ntra. Se\u00f1ora de Candelaria, 38010 Santa Cruz de Tenerife, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Perez-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Allergy Service, Hospital Universitario Ntra. Se\u00f1ora de Candelaria, 38010 Santa Cruz de Tenerife, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javier","family":"Barrios-Recio","sequence":"additional","affiliation":[{"name":"Allergy Service, Hospital Universitario Ntra. Se\u00f1ora de Candelaria, 38010 Santa Cruz de Tenerife, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose-Carlos","family":"Garc\u00eda-Robaina","sequence":"additional","affiliation":[{"name":"Allergy Service, Hospital Universitario Ntra. Se\u00f1ora de Candelaria, 38010 Santa Cruz de Tenerife, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Almudena","family":"Corrales","sequence":"additional","affiliation":[{"name":"Research Unit, Hospital Universitario Ntra. Se\u00f1ora de Candelaria, Instituto de Investigaci\u00f3n Sanitaria de Canarias, 38010 Santa Cruz de Tenerife, Spain"},{"name":"CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Itahisa","family":"Marcelino-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Research Unit, Hospital Universitario Ntra. Se\u00f1ora de Candelaria, Instituto de Investigaci\u00f3n Sanitaria de Canarias, 38010 Santa Cruz de Tenerife, Spain"},{"name":"Preventive Medicine and Public Health Area, Universidad de La Laguna, 38200 Santa Cruz de Tenerife, Spain"},{"name":"Instituto de Tecnolog\u00edas Biom\u00e9dicas (ITB), Universidad de La Laguna, 38200 Santa Cruz de Tenerife, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose-Miguel","family":"Lorenzo-Salazar","sequence":"additional","affiliation":[{"name":"Genomics Division, Instituto Tecnol\u00f3gico y de Energ\u00edas Renovables, 38600 Santa Cruz de Tenerife, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9022-8663","authenticated-orcid":false,"given":"Rafaela","family":"Gonz\u00e1lez-Montelongo","sequence":"additional","affiliation":[{"name":"Genomics Division, Instituto Tecnol\u00f3gico y de Energ\u00edas Renovables, 38600 Santa Cruz de Tenerife, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5352-069X","authenticated-orcid":false,"given":"Carlos","family":"Flores","sequence":"additional","affiliation":[{"name":"Research Unit, Hospital Universitario Ntra. Se\u00f1ora de Candelaria, Instituto de Investigaci\u00f3n Sanitaria de Canarias, 38010 Santa Cruz de Tenerife, Spain"},{"name":"CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Instituto de Tecnolog\u00edas Biom\u00e9dicas (ITB), Universidad de La Laguna, 38200 Santa Cruz de Tenerife, Spain"},{"name":"Genomics Division, Instituto Tecnol\u00f3gico y de Energ\u00edas Renovables, 38600 Santa Cruz de Tenerife, Spain"},{"name":"Facultad de Ciencias de la Salud, Universidad Fernando Pessoa Canarias, 35450 Las Palmas de Gran Canaria, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8964-8262","authenticated-orcid":false,"given":"Ariel","family":"Callero","sequence":"additional","affiliation":[{"name":"Research Unit, Hospital Universitario Ntra. Se\u00f1ora de Candelaria, Instituto de Investigaci\u00f3n Sanitaria de Canarias, 38010 Santa Cruz de Tenerife, Spain"},{"name":"Allergy Service, Hospital Universitario Ntra. Se\u00f1ora de Candelaria, 38010 Santa Cruz de Tenerife, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,2,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.jaci.2024.03.024","article-title":"The Definition, Acronyms, Nomenclature, and Classification of Angioedema: AAAAI, ACAAI, ACARE, and APAACI DANCE Consensus","volume":"154","author":"Reshef","year":"2024","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Marcelino, I., Callero, A., Mendoza-Alvarez, A., Perez-Rodriguez, E., Barrios-Recio, J., Garcia-Robaina, J.C., and Flores, C. (2019). Bradykinin-mediated angioedema: An update of the genetic causes and the impact of genomics. Front. 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