Evidence map›Paper›PMID 30315151›Full record

ArticleTranslational psychiatry2018

Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.

Rachel L Kember, Liping Hou, Xiao Ji, Lars H Andersen, Arpita Ghorai, Lisa N Estrella, Laura Almasy, Francis J McMahon, Christopher Brown, Maja Bućan

Open access · goldAbstract read
In one paragraph

Article in Translational psychiatry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.2field-weighted citation impact, top 11% 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

10 citing papers in PubMed, 23 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

10 authors at 4 institutions in 1 country.

Rachel L KemberDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Liping HouHuman Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, MD, 20892, USA.ORCID http://orcid.org/0000-0003-3972-245X
Xiao JiGenomics and Computational Biology Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Lars H AndersenLancaster General Health/Penn Medicine, University of Pennsylvania Health System, Lancaster, PA, 17602, USA.
Arpita GhoraiDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Lisa N EstrellaLancaster General Health/Penn Medicine, University of Pennsylvania Health System, Lancaster, PA, 17602, USA.
Laura AlmasyDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Francis J McMahonHuman Genetics Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, MD, 20892, USA.ORCID http://orcid.org/0000-0002-9469-305X
Christopher BrownDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Maja BućanDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA. bucan@upenn.edu.
University of Pennsylvania · USNational Institutes of Health · USUniversity of Pennsylvania Health System · USChildren's Hospital of Philadelphia · US

Funding

Mapping genes that contribute to bipolar disorderZIAMH002810 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI MCMAHON, FRANCIS J · 2009 to 2025
$31.2M
Identification of Genes Involved in Major Mood DisordersZIAMH002843 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI MCMAHON, FRANCIS J · 2009 to 2025
$24.5M
Genomic analysis of bipolar disorder in a genetic isolateR01MH093415 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI BUCAN, MAJA · 2011 to 2014
$3.5M
The Bipolar Sequencing Consortium for Combined Analyses and Follow-Up - SupplementR01MH110437 · NIMH · JOHNS HOPKINS UNIVERSITY · PI BOEHNKE, MICHAEL L, FREIMER, NELSON B. · 2016 to 2018
$2.5M
NIMH NIH HHS R01 MH093415NIMH NIH HHS R01 MH110437
6 · The paper itself

Abstract

Bipolar disorder (BD) is a mental disorder characterized by alternating periods of depression and mania. Individuals with BD have higher levels of early mortality than the general population, and a substantial proportion of this is due to increased risk for comorbid diseases. To identify the molecular events that underlie BD and related medical comorbidities, we generated imputed whole-genome sequence data using a population-specific reference panel for an extended multigenerational Old Order Amish pedigree (n = 394), segregating BD and related disorders. First, we investigated all putative disease-causing variants at known Mendelian disease loci present in this pedigree. Second, we performed genomic profiling using polygenic risk scores (PRS) to establish each individual's risk for several complex diseases. We identified a set of Mendelian variants that co-occur in individuals with BD more frequently than their unaffected family members, including the R3527Q mutation in APOB associated with hypercholesterolemia. Using PRS, we demonstrated that BD individuals from this pedigree were enriched for the same common risk alleles for BD as the general population (β = 0.416, p = 6 × 10

Indexed as

Genetic PleiotropyGenetic Predisposition to DiseaseAmishBipolar DisorderDiabetes ComplicationsHumansLipid MetabolismMood DisordersMultifactorial InheritanceMutationPedigreePolymorphism, Single NucleotideRisk FactorsThyroid Diseases

Identifiers

PMID30315151
PMCPMC6185949
OpenAlexW2952952507

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.