{"doi":"10.1530/erc-16-0055","title":"Genetics of primary hyperaldosteronism","abstract":"<jats:p>\n                    Hypertension is a common medical condition and affects approximately 20% of the population in developed countries. Primary aldosteronism is the most common form of secondary hypertension and affects 8–13% of patients with hypertension. The two most common causes of primary aldosteronism are aldosterone-producing adenoma and bilateral adrenal hyperplasia. Familial hyperaldosteronism types I, II and III are the known genetic syndromes, in which both adrenal glands produce excessive amounts of aldosterone. However, only a minority of patients with primary aldosteronism have one of these syndromes. Several novel susceptibility genes have been found to be mutated in aldosterone-producing adenomas:\n                    <jats:italic>KCNJ5</jats:italic>\n                    ,\n                    <jats:italic>ATP1A1</jats:italic>\n                    ,\n                    <jats:italic>ATP2B3</jats:italic>\n                    ,\n                    <jats:italic>CTNNB1, CACNA1D, CACNA1H</jats:italic>\n                    and\n                    <jats:italic>ARMC5</jats:italic>\n                    . This review describes the genes currently known to be responsible for primary aldosteronism, discusses the origin of aldosterone-producing adenomas and considers the future clinical implications based on these novel insights.\n                  </jats:p>","journal":"Endocrine-Related Cancer","year":2016,"id":610555,"datarank":1.9232752800293784,"base_score":3.5263605246161616,"endowment":3.5263605246161616,"self_citation_contribution":0.5289540786924243,"citation_network_contribution":1.3943212013369541,"self_endowment_contribution":0.5289540786924243,"citer_contribution":1.3943212013369541,"corpus_percentile":null,"corpus_rank":null,"citation_count":33,"citer_count":31,"citers_with_citation_signal":25,"citers_with_endowment":25,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":926953,"name":"Peter Söderkvist","orcid":"0000-0001-9867-8706","position":1,"is_corresponding":false},{"id":311975,"name":"Oliver Gimm","orcid":"0000-0002-0054-664X","position":2,"is_corresponding":false},{"id":858320,"name":"Ravi Kumar Dutta","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Genetics of primary hyperaldosteronism","abstract":"<jats:p>\n                    Hypertension is a common medical condition and affects approximately 20% of the population in developed countries. Primary aldosteronism is the most common form of secondary hypertension and affects 8–13% of patients with hypertension. The two most common causes of primary aldosteronism are aldosterone-producing adenoma and bilateral adrenal hyperplasia. Familial hyperaldosteronism types I, II and III are the known genetic syndromes, in which both adrenal glands produce excessive amounts of aldosterone. However, only a minority of patients with primary aldosteronism have one of these syndromes. Several novel susceptibility genes have been found to be mutated in aldosterone-producing adenomas:\n                    <jats:italic>KCNJ5</jats:italic>\n                    ,\n                    <jats:italic>ATP1A1</jats:italic>\n                    ,\n                    <jats:italic>ATP2B3</jats:italic>\n                    ,\n                    <jats:italic>CTNNB1, CACNA1D, CACNA1H</jats:italic>\n                    and\n                    <jats:italic>ARMC5</jats:italic>\n                    . This review describes the genes currently known to be responsible for primary aldosteronism, discusses the origin of aldosterone-producing adenomas and considers the future clinical implications based on these novel insights.\n                  </jats:p>","is_dataset_classified":null,"base_score":3.5263605246161616,"endowment":3.5263605246161616,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"27485459","pmcid":null,"openalex_id":"https://openalex.org/W2496231646","authors":[],"funders":[],"total_grants":0,"fwci":3.4468,"citation_percentile":0.92934992,"influential_citations":0,"citation_trend":[{"year":2017,"count":7},{"year":2018,"count":3},{"year":2019,"count":5},{"year":2020,"count":6},{"year":2021,"count":3},{"year":2022,"count":3},{"year":2023,"count":4},{"year":2024,"count":1},{"year":2025,"count":1}],"oa_status":"bronze","license":null,"oa_locations":[{"url":"https://erc.bioscientifica.com/downloadpdf/journals/erc/23/10/R437.pdf","host_type":"journal"},{"url":"https://erc.bioscientifica.com/downloadpdf/journals/erc/23/10/R437.pdf","host_type":"publisher"},{"url":"https://erc.bioscientifica.com/view/journals/erc/23/10/R437.xml","host_type":"publisher"},{"url":"https://erc.bioscientifica.com/downloadpdf/journals/erc/23/10/R437.xml","host_type":"publisher"},{"url":"https://doi.org/10.1530/erc-16-0055","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/27485459","host_type":"repository"}],"fields_of_study":["Hormonal Regulation and Hypertension","Adrenal and Paraganglionic Tumors","Cardiovascular, Neuropeptides, and Oxidative Stress Research","Adrenal Cortex Neoplasms","Adrenal Glands","Adrenocortical Adenoma","Aldosterone","Animals","Genetic Predisposition to Disease","Humans","Hyperaldosteronism","Hyperplasia"],"mesh_terms":["Adrenal Cortex Neoplasms","Adrenal Glands","Aldosterone","Animals","Humans","Hyperaldosteronism","Hyperplasia","Adrenocortical Adenoma","Genetic Predisposition to Disease"],"keywords":["Primary aldosteronism","Hyperaldosteronism","Aldosterone","Secondary hypertension","Medicine","Adenoma","Population","Internal medicine","Endocrinology","Blood pressure","Genetics","Calcium channel","Familial","Sporadic"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Partnerships for the goals"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-01T00:47:34.949716Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}