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Genetics of Aldosterone-Producing Adenoma in Korean Patients

OBJECTIVES: Recently, 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 corr...

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Autores principales: Hong, A. Ram, Kim, Jung Hee, Song, Young Shin, Lee, Kyu Eun, Seo, Soo Hyun, Seong, Moon-Woo, Shin, Chan Soo, Kim, Sang Wan, Kim, Seong Yeon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726589/
https://www.ncbi.nlm.nih.gov/pubmed/26807823
http://dx.doi.org/10.1371/journal.pone.0147590
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author Hong, A. Ram
Kim, Jung Hee
Song, Young Shin
Lee, Kyu Eun
Seo, Soo Hyun
Seong, Moon-Woo
Shin, Chan Soo
Kim, Sang Wan
Kim, Seong Yeon
author_facet Hong, A. Ram
Kim, Jung Hee
Song, Young Shin
Lee, Kyu Eun
Seo, Soo Hyun
Seong, Moon-Woo
Shin, Chan Soo
Kim, Sang Wan
Kim, Seong Yeon
author_sort Hong, A. Ram
collection PubMed
description OBJECTIVES: Recently, 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. METHODS: We performed targeted gene sequencing in 66 patients with APA to detect somatic mutations in these genes. RESULTS: Somatic 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). CONCLUSIONS: The 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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spelling pubmed-47265892016-02-03 Genetics of Aldosterone-Producing Adenoma in Korean Patients Hong, A. Ram Kim, Jung Hee Song, Young Shin Lee, Kyu Eun Seo, Soo Hyun Seong, Moon-Woo Shin, Chan Soo Kim, Sang Wan Kim, Seong Yeon PLoS One Research Article OBJECTIVES: Recently, 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. METHODS: We performed targeted gene sequencing in 66 patients with APA to detect somatic mutations in these genes. RESULTS: Somatic 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). CONCLUSIONS: The 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. Public Library of Science 2016-01-25 /pmc/articles/PMC4726589/ /pubmed/26807823 http://dx.doi.org/10.1371/journal.pone.0147590 Text en © 2016 Hong et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Hong, A. Ram
Kim, Jung Hee
Song, Young Shin
Lee, Kyu Eun
Seo, Soo Hyun
Seong, Moon-Woo
Shin, Chan Soo
Kim, Sang Wan
Kim, Seong Yeon
Genetics of Aldosterone-Producing Adenoma in Korean Patients
title Genetics of Aldosterone-Producing Adenoma in Korean Patients
title_full Genetics of Aldosterone-Producing Adenoma in Korean Patients
title_fullStr Genetics of Aldosterone-Producing Adenoma in Korean Patients
title_full_unstemmed Genetics of Aldosterone-Producing Adenoma in Korean Patients
title_short Genetics of Aldosterone-Producing Adenoma in Korean Patients
title_sort genetics of aldosterone-producing adenoma in korean patients
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726589/
https://www.ncbi.nlm.nih.gov/pubmed/26807823
http://dx.doi.org/10.1371/journal.pone.0147590
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