Evidence map›Paper›PMID 30675526›Full record

ArticleCommunications biology2019

Parent-of-origin effects on quantitative phenotypes in a large Hutterite pedigree.

Sahar V Mozaffari, Jeanne M DeCara, Sanjiv J Shah, Carlo Sidore, Edoardo Fiorillo, Francesco Cucca, Roberto M Lang, Dan L Nicolae, Carole Ober

Open access · goldAbstract read
In one paragraph

Article in Communications biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
2.9field-weighted citation impact, top 9% 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

17 citing papers in PubMed, 25 citations in OpenAlex.

  1. Article
  2. Abundant Parent-of-origin Effect eQTL: The Framingham Heart Study.bioRxiv : the preprint server for biology · 2025
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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

9 authors at 4 institutions in 2 countries.

Sahar V Mozaffari1Department of Human Genetics, University of Chicago, Chicago, IL 60637 USA.ORCID 0000-0002-8216-1670
Jeanne M DeCara3Department of Medicine, University of Chicago, Chicago, IL 60637 USA.
Sanjiv J Shah4Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL 60611 USA.
Carlo Sidore5Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, 09042 Italy.
Edoardo Fiorillo5Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, 09042 Italy.
Francesco Cucca5Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, 09042 Italy.
Roberto M Lang3Department of Medicine, University of Chicago, Chicago, IL 60637 USA.
Dan L Nicolae1Department of Human Genetics, University of Chicago, Chicago, IL 60637 USA.
Carole Ober1Department of Human Genetics, University of Chicago, Chicago, IL 60637 USA.
University of Chicago · USInstitute of Genetic and Biomedical Research · ITNorthwestern University · USUniversity of Sassari · IT

Funding

PREDOCTORAL TRAINING IN GENETICS AND REGULATIONT32GM007197 · NIGMS · UNIVERSITY OF CHICAGO · PI ROTHMAN-DENES, LUCIA B. B · 1985 to 2020
$17.0M
Sex-Specific Genetic Architecture of Asthma-Associated Quantitative TraitsR01HL085197 · NHLBI · UNIVERSITY OF CHICAGO · PI OBER, CAROLE · 2007 to 2015
$7.6M
MOLECULAR GENETIC STUDIES OF FERTILITY IN THE HUTTERITESR01HD021244 · NICHD · UNIVERSITY OF CHICAGO · PI OBER, CAROLE · 1986 to 2011
$3.0M
Beagle-2S10OD018495 · OD · UNIVERSITY OF CHICAGO · PI FOSTER, IAN · 2014 to 2014
$2.0M
Allele Specific and Parent of Origin Effects on Gene Expression and Cardiovascular Disease Associated TraitsF31HL134315 · NHLBI · UNIVERSITY OF CHICAGO · PI MOZAFFARI, SAHAR VICTORIA · 2016 to 2017
$88k
NHLBI NIH HHS F31 HL134315NHLBI NIH HHS R01 HL085197NICHD NIH HHS R01 HD021244NIGMS NIH HHS T32 GM007197NIH HHS S10 OD018495
6 · The paper itself

Abstract

The impact of the parental origin of associated alleles in GWAS has been largely ignored. Yet sequence variants could affect traits differently depending on whether they are inherited from the mother or the father, as in imprinted regions, where identical inherited DNA sequences can have different effects based on the parental origin. To explore parent-of-origin effects (POEs), we studied 21 quantitative phenotypes in a large Hutterite pedigree to identify variants with single parent (maternal-only or paternal-only) effects, and then variants with opposite parental effects. Here we show that POEs, which can be opposite in direction, are relatively common in humans, have potentially important clinical effects, and will be missed in traditional GWAS. We identified POEs with 11 phenotypes, most of which are risk factors for cardiovascular disease. Many of the loci identified are characteristic of imprinted regions and are associated with the expression of nearby genes.

Indexed as

Genetic Association StudiesNuclear FamilyParentsPedigreePhenotypeAlgorithmsAllelesGenetic MarkersGenome-Wide Association StudyHumansModels, GeneticPolymorphism, Single NucleotideGenetic Markers

Identifiers

PMID30675526
PMCPMC6338666
OpenAlexW2920627534

What OpenQuestion 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 OpenQuestion graph.