Familial aggregation and heritability of aldosteronism with cardiovascular events

Vin Cent Wu, Jeff S. Chueh, Mei Yun Hsieh, Ya Hui Hu, Kuo How Huang, Yen Hung Lin, Shao Yu Yang, Tzong Shinn Chu, Chang Fu Kuo*

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

3 Scopus citations

Abstract

Context. To date, the effect of positive family history as a risk factor of primary aldosteronism(PA) is largely unknown. Studies have failed to distinguish the heritability of PA as well as theassociations between positive family history of PA and clinical outcomes.Objectives. We quantified the prevalence, the extent of familial aggregation, the heritability ofPA among family members of patients with PA, and the association between positive PA familyhistory and major cardiovascular events (MACE).Design and Settings. Using the Taiwan National Health Insurance Database, 30 245 077National Health Insurance beneficiaries (both alive and those deceased between January 1,1999, and December 31, 2015) were identified.Results. We identified 7902 PA patients. Forty-four had PA (0.3%) among 10 234 individualswith affected parents, 2298 with affected offspring, 1924 with affected siblings, and 22 withaffected twins. A positive family history was associated with the adjusted relative risk (RR)(95% confidence interval [CI]) of 11.60 (7.63-17.63) for PA in people with an affected firstdegree relative. In subgroup analysis, the risk for PA across all relationships (parent, siblings,offspring, and spouse) showed highly significant differences to PA without family history. Theaccountability for phenotypic variance of PA was 51.0% for genetic factors, 24.9% for sharedenvironmental factors, and 24.1% for nonshared environmental factors. PA patients withan affected first-degree relative were associated with an increased risk for composite majorcardiovascular events (RR 1.31; 95% CI 1.24-1.40, P <.001) compared with PA patients withoutfamily history.Conclusion. Familial clustering of PA exists among a population-based study, supporting agenetic susceptibility leading to PA. There is increased coaggregation of MACE in first-degreerelatives of PA patients. Our findings suggest a strong genetic component in the susceptibilityof PA, involving different kinships.

Original languageEnglish
JournalJournal of Clinical Endocrinology and Metabolism
Volume105
Issue number6
DOIs
StatePublished - 01 06 2020

Bibliographical note

Publisher Copyright:
© 2020 Endocrine Society. All rights reserved.

Keywords

  • Familial aggregation
  • Heritability
  • Primary aldosteronism
  • TAIPAI

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