Evidence map›Paper›PMID 27663074›Full record

ArticleMolecular and cellular endocrinology2017

Genetic analysis of hyperemesis gravidarum reveals association with intracellular calcium release channel (RYR2).

Marlena Schoenberg Fejzo, Ronny Myhre, Lucía Colodro-Conde, Kimber W MacGibbon, Janet S Sinsheimer, M V Prasad Linga Reddy, Päivi Pajukanta, Dale R Nyholt, Margaret J Wright, Nicholas G Martin and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular and cellular endocrinology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
3.0field-weighted citation impact, top 8% 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

15 citing papers in PubMed, 29 citations in OpenAlex.

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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

14 authors at 8 institutions in 3 countries.

Marlena Schoenberg FejzoDepartment of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA; Department of Maternal-Fetal Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. Electronic address: mfejzo@mednet.ucla.edu.
Ronny MyhreNorwegian Institute of Public Health, Oslo Norway.
Lucía Colodro-CondePsychiatric Genetics Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Kimber W MacGibbonHyperemesis Education and Research Foundation, Damascus, OR, USA.
Janet S SinsheimerDepartments of Biostatistics, Biomathematics, & Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
M V Prasad Linga ReddyDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Päivi PajukantaDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Dale R NyholtInstitute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, Australia.
Margaret J WrightQueensland Brain Institute and Centre for Advanced Imaging, University of Queensland, Brisbane, Australia.
Nicholas G MartinGenetic Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Stephanie M EngelDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Sarah E MedlandPsychiatric Genetics Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Per MagnusNorwegian Institute of Public Health, Oslo Norway.
Patrick M MullinDepartment of Maternal-Fetal Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
University of California, Los Angeles · USQIMR Berghofer Medical Research Institute · AUNorwegian Institute of Public Health · NOEducation & Research Foundation · USQueensland Eye Institute · AUQueensland University of Technology · AUUniversity of North Carolina at Chapel Hill · USUniversity of Southern California · US

Funding

UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
Gene-Environment Interactions in an Autism Birth CohortU01NS047537 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LIPKIN, W. IAN · 2003 to 2013
$27.0M
STATISTICAL METHODS FOR GENE MAPPINGR01GM053275 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI LANGE, KENNETH L · 1995 to 2019
$9.3M
UCLA Clinical and Translational Science InstituteKL2TR000122 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$4.5M
Prenatal Smoking, Maternal & Fetal Genetic Variation & Risk of PreeclampsiaR01HD058008 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI ENGEL, STEPHANIE · 2008 to 2012
$2.7M
UCLA Clinical and Translational Science InstituteKL2RR033185 · NCRR · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2011 to 2011
$407k
NCATS NIH HHS KL2 TR000122NCATS NIH HHS UL1 TR000124NCRR NIH HHS KL2 RR033185NICHD NIH HHS R01 HD058008NIEHS NIH HHS N01 ES075558NIGMS NIH HHS R01 GM053275NINDS NIH HHS U01 NS047537
6 · The paper itself

Abstract

Hyperemesis Gravidarum (HG), severe nausea/vomiting in pregnancy (NVP), can cause poor maternal/fetal outcomes. Genetic predisposition suggests the genetic component is essential in discovering an etiology. We performed whole-exome sequencing of 5 families followed by analysis of variants in 584 cases/431 controls. Variants in RYR2 segregated with disease in 2 families. The novel variant L3277R was not found in any case/control. The rare variant, G1886S was more common in cases (p = 0.046) and extreme cases (p = 0.023). Replication of G1886S using Norwegian/Australian data was supportive. Common variants rs790899 and rs1891246 were significantly associated with HG and weight loss. Copy-number analysis revealed a deletion in a patient. RYR2 encodes an intracellular calcium release channel involved in vomiting, cyclic-vomiting syndrome, and is a thyroid hormone target gene. Additionally, RYR2 is a downstream drug target of Inderal, used to treat HG and CVS. Thus, herein we provide genetic evidence for a pathway and therapy for HG.

Indexed as

Genetic Predisposition to DiseaseAustraliaCalciumCohort StudiesExomeFamilyFemaleGene DeletionGene DosageGenome-Wide Association StudyHumansHyperemesis GravidarumIntracellular SpaceMaleNorwayParenteral NutritionCalciumRyanodine Receptor Calcium Release ChannelHyperemesis gravidarumNauseaPregnancyRYR2Vomiting

Identifiers

PMID27663074
PMCPMC6464816
OpenAlexW2522438015

What OpenQuestion 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 OpenQuestion graph.