Evidence map›Paper›PMID 29495593›Full record

ReviewInternational journal of molecular sciences2018

Advances in the Genetics of Hypertension: The Effect of Rare Variants.

Alessia Russo, Cornelia Di Gaetano, Giovanni Cugliari, Giuseppe Matullo

Abstract readReview
In one paragraph

Review in International journal of molecular sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.

0numbers the graph read from it
0cells of the map it votes in
33citing 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

33 citing papers in PubMed.

  1. Article
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  7. Digitalization of hypertension management: a paradigm shift.Naunyn-Schmiedeberg's archives of pharmacology · 2024
    Review
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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

4 authors.

Alessia RussoDepartment of Medical Sciences, University of Turin, 10126 Turin, Italy. alessia.russo@hugef.org.
Cornelia Di GaetanoDepartment of Medical Sciences, University of Turin, 10126 Turin, Italy. cornelia.digaetano@unito.it.
Giovanni CugliariDepartment of Medical Sciences, University of Turin, 10126 Turin, Italy. giovanni.cugliari@hugef.org.ORCID 0000-0002-6080-0718
Giuseppe MatulloDepartment of Medical Sciences, University of Turin, 10126 Turin, Italy. giuseppe.matullo@unito.it.ORCID 0000-0003-0674-7757

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Worldwide, hypertension still represents a serious health burden with nine million people dying as a consequence of hypertension-related complications. Essential hypertension is a complex trait supported by multifactorial genetic inheritance together with environmental factors. The heritability of blood pressure (BP) is estimated to be 30-50%. A great effort was made to find genetic variants affecting BP levels through Genome-Wide Association Studies (GWAS). This approach relies on the "common disease-common variant" hypothesis and led to the identification of multiple genetic variants which explain, in aggregate, only 2-3% of the genetic variance of hypertension. Part of the missing genetic information could be caused by variants too rare to be detected by GWAS. The use of exome chips and Next-Generation Sequencing facilitated the discovery of causative variants. Here, we report the advances in the detection of novel rare variants, genes, and/or pathways through the most promising approaches, and the recent statistical tests that have emerged to handle rare variants. We also discuss the need to further support rare novel variants with replication studies within larger consortia and with deeper functional studies to better understand how new genes might improve patient care and the stratification of the response to antihypertensive treatments.

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationAllelesAnimalsBiomarkersBlood PressureGenome-Wide Association StudyHigh-Throughput Nucleotide SequencingHumansHypertensionPolymorphism, Single NucleotideBiomarkersblood pressureburden testessential hypertensionexome microarraygenome-wide association studiesnext-generation sequencingrare variantsrare-variants association testingsequence kernel association test

Identifiers

PMID29495593
PMCPMC5877549

What Socratic holds

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Registered trials

None linked

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 Socratic graph.