ArticlePloS one2016
Genetics of Aldosterone-Producing Adenoma in Korean Patients.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 55 citations in OpenAlex.
- Sexual dimorphism in benign adrenocortical tumours.European journal of endocrinology · 2025Review
- Clinical comparison and genetic analysis in pheochromocytoma with primary aldosteronism.Endocrine journal · 2025Article
- The relationship between tissue inhibitor of metalloproteinases-1 and KCNJ5 mutation in aldosterone-producing adenoma patients.Hypertension research : official journal of the Japanese Society of Hypertension · 2025Article
- Temporal trends in clinical features of patients with primary aldosteronism over 20 years.Hypertension research : official journal of the Japanese Society of Hypertension · 2024Article
- Shifting paradigms in primary aldosteronism: reconsideration of screening strategy via integrating pathophysiological insights.Frontiers in endocrinology · 2024Review
- 2023 Korean Endocrine Society Consensus Guidelines for the Diagnosis and Management of Primary Aldosteronism.Endocrinology and metabolism (Seoul, Korea) · 2023Article
- Cardiovascular and metabolic characters ofFrontiers in endocrinology · 2023Review
- Genetic Alterations in Benign Adrenal Tumors.Biomedicines · 2022Review
- Disorders of the adrenal cortex: Genetic and molecular aspects.Frontiers in endocrinology · 2022Review
- KCNJ5 Somatic Mutation Is Associated With Higher Aortic Wall Thickness and Less Calcification in Patients With Aldosterone-Producing Adenoma.Frontiers in endocrinology · 2022Article
- Metabolic Subtyping of Adrenal Tumors: Prospective Multi-Center Cohort Study in Korea.Endocrinology and metabolism (Seoul, Korea) · 2021Article
- Article
- Diseases caused by mutations in the NaAmerican journal of physiology. Cell physiology · 2021Review
- GENETICS IN ENDOCRINOLOGY: Impact of race and sex on genetic causes of aldosterone-producing adenomas.European journal of endocrinology · 2021Review
- Update on Genetics of Primary Aldosteronism.Biomedicines · 2021Review
- Recent Development toward the Next Clinical Practice of Primary Aldosteronism: A Literature Review.Biomedicines · 2021Review
- What Did We Learn from the Molecular Biology of Adrenal Cortical Neoplasia? From Histopathology to Translational Genomics.Endocrine pathology · 2021Review
- Aldosterone-Regulating Receptors and Aldosterone-Driver Somatic Mutations.Frontiers in endocrinology · 2021Article
- Molecular Genetic and Genomic Alterations in Cushing's Syndrome and Primary Aldosteronism.Frontiers in endocrinology · 2021Review
- The Potential Role of Aldosterone-Producing Cell Clusters in Adrenal Disease.Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme · 2020Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesRecently, somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D genes were found to be associated with the pathogenesis of aldosterone-producing adenoma (APA). This study aimed to investigate the prevalence of somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D and examine the correlations between these mutations and the clinical and biochemical characteristics in Korean patients with APA.
methodsWe performed targeted gene sequencing in 66 patients with APA to detect somatic mutations in these genes.
resultsSomatic KCNJ5 mutations were found in 47 (71.2%) of the 66 patients with APA (31 cases of p.G151R and 16 cases of p.L168R); these two mutations were mutually exclusive. Somatic mutations in the ATP1A1, ATP2B3, and CACNA1D genes were not observed. Somatic KCNJ5 mutations were more prevalent in female patients (66% versus 36.8%, respectively; P = 0.030). Moreover, patients with KCNJ5 mutations comprised a significantly higher proportion of patients younger than 35 years of age (19.1% versus 0%, respectively; P = 0.040). There were no significant differences in pre-operative blood pressure, plasma aldosterone, serum potassium, lateralization index, and adenoma size according to mutational status. Patients with KCNJ5 mutations were less likely to need antihypertensive medications after adrenalectomy compared with those without mutation (36.2% versus 63.2%; P = 0.045).
conclusionsThe present study demonstrated the high prevalence of somatic KCNJ5 mutations in Korean patients with APA. Carriers of somatic KCNJ5 mutations were more likely to be female. Early diagnosis and better therapeutic outcomes were associated with somatic KCNJ5 mutations in APA.
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