{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T02:19:02Z","timestamp":1793758742337,"version":"4.6.1"},"reference-count":27,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Hypertension"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:p>\n                    Primary aldosteronism is the most common form of secondary hypertension. Somatic mutations in\n                    <jats:italic>KCNJ5<\/jats:italic>\n                    ,\n                    <jats:italic>ATP1A1<\/jats:italic>\n                    ,\n                    <jats:italic>ATP2B3<\/jats:italic>\n                    , and\n                    <jats:italic>CACNA1D<\/jats:italic>\n                    have been described in aldosterone-producing adenomas (APAs). Our aim was to investigate the prevalence of somatic mutations in these genes in unselected patients with APA (n=474), collected through the European Network for the Study of Adrenal Tumors. Correlations with clinical and biochemical parameters were first analyzed in a subset of 199 patients from a single center and then replicated in 2 additional centers. Somatic heterozygous\n                    <jats:italic>KCNJ5<\/jats:italic>\n                    mutations were present in 38% (180\/474) of APAs, whereas\n                    <jats:italic>ATP1A1<\/jats:italic>\n                    mutations were found in 5.3% (25\/474) and\n                    <jats:italic>ATP2B3<\/jats:italic>\n                    mutations in 1.7% (8\/474) of APAs. Previously reported somatic\n                    <jats:italic>CACNA1D<\/jats:italic>\n                    mutations as well as 10 novel\n                    <jats:italic>CACNA1D<\/jats:italic>\n                    mutations were identified in 44 of 474 (9.3%) APAs. There was no difference in the cellular composition of APAs or in\n                    <jats:italic>CYP11B2<\/jats:italic>\n                    ,\n                    <jats:italic>CYP11B1, KCNJ5<\/jats:italic>\n                    ,\n                    <jats:italic>CACNA1D<\/jats:italic>\n                    , or\n                    <jats:italic>ATP1A1<\/jats:italic>\n                    gene expression in APAs across genotypes. Patients with\n                    <jats:italic>KCNJ5<\/jats:italic>\n                    mutations were more frequently female, diagnosed younger, and with higher minimal plasma potassium concentrations compared with\n                    <jats:italic>CACNA1D<\/jats:italic>\n                    mutation carriers or noncarriers.\n                    <jats:italic>CACNA1D<\/jats:italic>\n                    mutations were associated with smaller adenomas. These associations were largely dependent on the population structure of the different centers. In conclusion, recurrent somatic mutations were identified in 54% of APAs. Young women with APAs are more likely to be\n                    <jats:italic>KCNJ5<\/jats:italic>\n                    mutation carriers; identification of specific characteristics or surrogate biomarkers of mutation status may lead to targeted treatment options.\n                  <\/jats:p>","DOI":"10.1161\/hypertensionaha.114.03419","type":"journal-article","created":{"date-parts":[[2014,5,28]],"date-time":"2014-05-28T02:48:42Z","timestamp":1401245322000},"page":"354-361","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":284,"title":["Genetic Spectrum and Clinical Correlates of Somatic Mutations in Aldosterone-Producing Adenoma"],"prefix":"10.1161","volume":"64","author":[{"given":"Fabio Luiz","family":"Fernandes-Rosa","sequence":"first","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy Ann","family":"Williams","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Riester","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Steichen","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Beuschlein","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheerazed","family":"Boulkroun","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim M.","family":"Strom","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Monticone","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Amar","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tchao","family":"Meatchi","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Mantero","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria-Verena","family":"Cicala","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus","family":"Quinkler","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Fallo","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Allolio","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giampaolo","family":"Bernini","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Maccario","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilberta","family":"Giacchetti","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Jeunemaitre","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; 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University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria-Christina","family":"Zennaro","sequence":"additional","affiliation":[{"name":"From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de G\u00e9n\u00e9tique (F.L.F.-R., X.J., M.-C.Z.), Unit\u00e9 Hypertension art\u00e9rielle (L.A.), and Service d\u2019Anatomie Pathologique (T.M.), Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France; 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