{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T22:48:50Z","timestamp":1781563730895,"version":"3.54.5"},"reference-count":56,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T00:00:00Z","timestamp":1758499200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"CIBER\u2014Consorcio Centro de Investigaci\u00f3n Biom\u00e9dica en Red","award":["CB16\/11\/00229"],"award-info":[{"award-number":["CB16\/11\/00229"]}]},{"name":"CIBER\u2014Consorcio Centro de Investigaci\u00f3n Biom\u00e9dica en Red","award":["CB16\/11\/00246"],"award-info":[{"award-number":["CB16\/11\/00246"]}]},{"DOI":"10.13039\/501100003030","name":"Instituto de Salud Carlos III, Ministerio de Ciencia e Innovaci\u00f3n","doi-asserted-by":"publisher","award":["2021SGR144"],"award-info":[{"award-number":["2021SGR144"]}],"id":[{"id":"10.13039\/501100003030","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Crue-CSIC-Santander FONDO SUPERA COVID-19"},{"DOI":"10.13039\/100008666","name":"Fundaci\u00f3 La Marat\u00f3 de TV3","doi-asserted-by":"crossref","award":["202119-30"],"award-info":[{"award-number":["202119-30"]}],"id":[{"id":"10.13039\/100008666","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>We aimed to explore the global and sex-specific genetic variants associated with long COVID, as defined by patient-driven symptom recall. A 1-year cohort study of 2411 COVID-19 patients collected long COVID symptoms with an open-ended, non-directed questionnaire, and long COVID incidence was determined according to the World Health Organization definition. Global and sex-stratified genome-wide association analyses were conducted by logistic regression models adjusted for age, sex (in the global analysis), and the first 10 principal components. We assessed sex-variant interactions and performed gene-based analyses, gene mapping, and gene-set enrichment analyses. When comparing the 1392 long COVID cases with the non-cases, we identified 23 lead variants from suggestive signals: 13 from the global analysis, 5 from females, and 5 from males. Five variants showed a significant interaction with sex (two in females, three in males). We mapped 15 protein-coding genes related to diseases of the immune and nervous systems and tumoral processes. Notably, CD5 and VPS37C, linked to immune function, were significantly associated with long COVID in men. Our results suggest that persistent immune dysregulation may be involved in the development of precisely defined long COVID.<\/jats:p>","DOI":"10.3390\/ijms26189252","type":"journal-article","created":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T17:08:17Z","timestamp":1758560897000},"page":"9252","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Global and Sex-Stratified Genome-Wide Association Study of Long COVID Based on Patient-Driven Symptom Recall"],"prefix":"10.3390","volume":"26","author":[{"given":"Sara","family":"Polo-Alonso","sequence":"first","affiliation":[{"name":"Registre Giron\u00ed del Cor (REGICOR) Study Group, Hospital del Mar Research Institute, 08003 Barcelona, Spain"},{"name":"PhD Program in Biomedicine, Universitat Pompeu Fabra, 08003 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8593-1477","authenticated-orcid":false,"given":"\u00c1lvaro","family":"Hern\u00e1ez","sequence":"additional","affiliation":[{"name":"Registre Giron\u00ed del Cor (REGICOR) Study Group, Hospital del Mar Research Institute, 08003 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Cardiovasculares (CIBERCV), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Blanquerna School of Health Sciences, University Ramon Llull, 08022 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"D\u00e9gano","sequence":"additional","affiliation":[{"name":"Registre Giron\u00ed del Cor (REGICOR) Study Group, Hospital del Mar Research Institute, 08003 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Cardiovasculares (CIBERCV), Instituto de Salud Carlos III, 28029 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Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Puigmul\u00e9","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Cardiovasculares (CIBERCV), Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5344-6573","authenticated-orcid":false,"given":"Alexandra","family":"P\u00e9rez","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Center, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Girona Dr. Josep Trueta (IdIBGi), 17190 Salt, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6964-8898","authenticated-orcid":false,"given":"Raquel","family":"Cruz","sequence":"additional","affiliation":[{"name":"Centro Singular de Investigaci\u00f3n en Medicina Molecular y Enfermedades Cr\u00f3nicas (CIMUS), Universidade de Santiago de 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Petropoulou, D., Magkos, F., and Dalamaga, M. (2023). Laboratory Findings and Biomarkers in Long COVID: What Do We Know So Far? Insights into Epidemiology, Pathogenesis, Therapeutic Perspectives and Challenges. Int. J. Mol. Sci., 24.","DOI":"10.20944\/preprints202305.1487.v1"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1016\/S0140-6736(24)01136-X","article-title":"Long COVID: A Clinical Update","volume":"404","author":"Greenhalgh","year":"2024","journal-title":"Lancet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1636","DOI":"10.1093\/cid\/ciac961","article-title":"The Epidemiology of Long Coronavirus Disease in US Adults","volume":"76","author":"Robertson","year":"2023","journal-title":"Clin. Infect. Dis."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Kim, Y., Bae, S., Chang, H.H., and Kim, S.W. (2023). Long COVID Prevalence and Impact on Quality of Life 2 Years after Acute COVID-19. Sci. Rep., 13, Erratum in Sci. 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