Evidence map›Paper›PMID 26446392›Full record

ArticleJournal of human hypertension2016

ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions.

P Mulatero, F Schiavi, T A Williams, S Monticone, G Barbon, G Opocher, F Fallo

Abstract read
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In one paragraph

Article in Journal of human hypertension, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
4.0field-weighted citation impact, top 5% of its field
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

22 citing papers in PubMed, 48 citations in OpenAlex.

  1. Article
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  12. Article
  13. Molecular Mechanisms of Primary Aldosteronism.Endocrinology and metabolism (Seoul, Korea) · 2019
    Review
  14. Molecular mechanisms ofCurrent opinion in endocrine and metabolic research · 2019
    Article
  15. ARMC 5 Variants and Risk of Hypertension in Blacks: MH- GRID Study.Journal of the American Heart Association · 2019
    Article
  16. Review
  17. Article
  18. Article
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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

7 authors at 3 institutions in 1 country.

P MulateroDivision of Internal Medicine and Hypertension, Department of Medical Sciences-DSM, University of Torino, Torino Italy.
F SchiaviFamilial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, University of Padova, Padova, Italy.
T A WilliamsDivision of Internal Medicine and Hypertension, Department of Medical Sciences-DSM, University of Torino, Torino Italy.
S MonticoneDivision of Internal Medicine and Hypertension, Department of Medical Sciences-DSM, University of Torino, Torino Italy.
G BarbonFamilial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, University of Padova, Padova, Italy.
G OpocherFamilial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, University of Padova, Padova, Italy.
F FalloDepartment of Medicine-DIMED, Clinica Medica 3, University of Padova, Padova, Italy.
Istituto Oncologico Veneto · ITUniversity of Turin · ITUniversity of Padua · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Idiopathic hyperaldosteronism (IHA) due to bilateral adrenal hyperplasia is the most common subtype of primary aldosteronism (PA). The pathogenesis of IHA is still unknown, but the bilateral disease suggests a potential predisposing genetic alteration. Heterozygous germline mutations of armadillo repeat containing 5 (ARMC5) have been shown to be associated with hypercortisolism due to sporadic primary bilateral macronodular adrenal hyperplasia and are also observed in African-American PA patients. We investigated the presence of germline ARMC5 mutations in a group of PA patients who had bilateral computed tomography-detectable adrenal alterations. We sequenced the entire coding region of ARMC5 and all intron/exon boundaries in 39 patients (37 Caucasians and 2 black Africans) with confirmed PA (8 unilateral, 27 bilateral and 4 undetermined subtype) and bilateral adrenal lesions. We identified 11 common variants, 5 rare variants with a minor allele frequency <1% and 2 new variants not previously reported in public databases. We did not detect by in silico analysis any ARMC5 sequence variations that were predicted to alter protein function. In conclusion, ARMC5 mutations are not present in a fairly large series of Caucasian patients with PA associated to bilateral adrenal disease. Further studies are required to definitively clarify the role of ARMC5 in the pathogenesis of adrenal nodules and aldosterone excess in patients with PA.

Indexed as

DNA Mutational AnalysisGerm-Line MutationAdrenal Hyperplasia, CongenitalAdultArmadillo Domain ProteinsBlack or African AmericanBlack PeopleFemaleGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseHumansHyperaldosteronismItalyMaleMiddle AgedArmadillo Domain ProteinsARMC5 protein, humanTumor Suppressor Proteins

Identifiers

PMID26446392
OpenAlexW2336613908

What OpenQuestion holds

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Read underepoch 390

Registered trials

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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.