Evidence map›Paper›PMID 30204804›Full record

ArticlePloS one2018

Parent of origin gene expression in a founder population identifies two new candidate imprinted genes at known imprinted regions.

Sahar V Mozaffari, Michelle M Stein, Kevin M Magnaye, Dan L Nicolae, Carole Ober

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.4field-weighted citation impact, top 16% 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

7 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Molecular medicine reports · 2021
    Article
  5. Article
  6. Article
  7. Article
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

5 authors at 1 institution in 1 country.

Sahar V MozaffariCommittee on Genetics, Genomics & Systems Biology, University of Chicago, Chicago, Illinois, United States of America.ORCID 0000-0002-8216-1670
Michelle M SteinDepartment of Human Genetics, University of Chicago, Chicago, Illinois, United States of America.ORCID 0000-0002-7680-9012
Kevin M MagnayeDepartment of Human Genetics, University of Chicago, Chicago, Illinois, United States of America.ORCID 0000-0002-9425-1825
Dan L NicolaeCommittee on Genetics, Genomics & Systems Biology, University of Chicago, Chicago, Illinois, United States of America.
Carole OberCommittee on Genetics, Genomics & Systems Biology, University of Chicago, Chicago, Illinois, United States of America.
University of Chicago · US

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
Elucidating the Role of Mitochondrial and X Chromosome Variation on the Genetic Architecture of Complex TraitsF31HL143891 · NHLBI · UNIVERSITY OF CHICAGO · PI MAGNAYE, KEVIN MATTHEW · 2018 to 2020
$108k
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 F31 HL143891NHLBI NIH HHS R01 HL085197NICHD NIH HHS R01 HD021244NIGMS NIH HHS T32 GM007197NIH HHS S10 OD018495
6 · The paper itself

Abstract

Genomic imprinting is the phenomena that leads to silencing of one copy of a gene inherited from a specific parent. Mutations in imprinted regions have been involved in diseases showing parent of origin effects. Identifying genes with evidence of parent of origin expression patterns in family studies allows the detection of more subtle imprinting. Here, we use allele specific expression in lymphoblastoid cell lines from 306 Hutterites related in a single pedigree to provide formal evidence for parent of origin effects. We take advantage of phased genotype data to assign parent of origin to RNA-seq reads in individuals with gene expression data. Our approach identified known imprinted genes, two putative novel imprinted genes, PXDC1 and PWAR6, and 14 genes with asymmetrical parent of origin gene expression. We used gene expression in peripheral blood leukocytes (PBL) to validate our findings, and then confirmed imprinting control regions (ICRs) using DNA methylation levels in the PBLs.

Indexed as

Founder EffectGenomic ImprintingCell LineDNA MethylationEthnicityFemaleGene ExpressionGene Expression ProfilingHaplotypesHumansLymphocytesMalePedigreePolymorphism, Single NucleotideSequence Analysis, RNA

Identifiers

PMID30204804
PMCPMC6133383
OpenAlexW2953312863

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.