Evidence map›Paper›PMID 42577001›Full record

ArticleJournal of the Endocrine Society2026

Rare germline variants in canonical and candidate genes in apparently sporadic bilateral primary aldosteronism.

Lucas S Santana, Débora K Alves-Fernandes, Jose Antonio B Lima Sobrinho, Felipe Freitas-Castro, Lucas B Rossetti, Jessica Okubo, Gustavo F C Fagundes, Eduardo Z Kawahara, Thiago S Mendes, Luiz A Bortolotto and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of the Endocrine Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Lucas S SantanaUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Débora K Alves-FernandesUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Jose Antonio B Lima SobrinhoUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Felipe Freitas-CastroUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Lucas B RossettiUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Jessica OkuboUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Gustavo F C FagundesUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Eduardo Z KawaharaUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Thiago S MendesUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Luiz A BortolottoUnidade de Hipertensão, Instituto do Coração (InCor), Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-900, Brasil.ORCID https://orcid.org/0000-0002-4865-6442
Andrea Pio-AbreuUnidade de Hipertensão, Disciplina de Nefrologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brasil.
Giovanio V SilvaUnidade de Hipertensão, Disciplina de Nefrologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brasil.
Luciano F DragerUnidade de Hipertensão, Instituto do Coração (InCor), Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-900, Brasil.
Ana Claudia LatronicoUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Madson Q AlmeidaUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.ORCID https://orcid.org/0000-0002-2957-6148

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: The germline genetic basis of bilateral primary aldosteronism (PA) remains poorly understood, particularly in apparently sporadic disease. We investigated rare germline variants in canonical and candidate genes in patients with bilateral PA associated with resistant hypertension and/or hypertension diagnosed before 40 years of age. Methods: We studied 53 individuals with bilateral PA after exclusion of familial PA types 1 and 3. Whole-exome sequencing was performed in 52 probands and 1 affected relative. Variant prioritization was restricted to genes with direct or indirect evidence linking them to PA using a virtual panel approach. Clinical, biochemical, and imaging data were compared between carriers and noncarriers. Results: Nine of 53 patients (17%) harbored at least one rare germline candidate variant. Variants in canonical PA genes were identified in 5 patients (9.6%), including Conclusion: Rare germline variants in canonical and candidate genes were identified in a subset of patients with apparently sporadic bilateral PA. Variants in established genes, particularly

Indexed as

bilateral primary aldosteronismexome sequencinggenetics

Identifiers

PMID42577001
PMCPMC13453528

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.