Evidence map›Paper›PMID 32652459›Full record

ArticleBlood cells, molecules & diseases2020

Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels.

Eriza S Secondes, Daniel F Wallace, Gautam Rishi, Gordon D McLaren, Christine E McLaren, Wen-Pin Chen, Louise E Ramm, Lawrie W Powell, Grant A Ramm, James C Barton and 1 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Blood cells, molecules & diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 43% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. 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

11 authors at 5 institutions in 2 countries.

Eriza S SecondesSchool of Biomedical Sciences, Institute of Health and Biomedical Innovation, Queensland University of Technology (QUT), Brisbane, Queensland, Australia. Electronic address: e.secondes@qut.edu.au.
Daniel F WallaceSchool of Biomedical Sciences, Institute of Health and Biomedical Innovation, Queensland University of Technology (QUT), Brisbane, Queensland, Australia. Electronic address: d5.wallace@qut.edu.au.
Gautam RishiSchool of Biomedical Sciences, Institute of Health and Biomedical Innovation, Queensland University of Technology (QUT), Brisbane, Queensland, Australia. Electronic address: gautam.rishi@qut.edu.au.
Gordon D McLarenDivision of Hematology/Oncology, Department of Medicine, University of California, Irvine, CA, USA; Department of Veterans Affairs Long Beach Healthcare System, Long Beach, CA, USA. Electronic address: gmclaren@uci.edu.
Christine E McLarenDepartment of Medicine, University of California, Irvine, CA, USA. Electronic address: cmclaren@uci.edu.
Wen-Pin ChenChao Family Comprehensive Cancer Center, University of California, Irvine, CA. Electronic address: wenpinc@uci.edu.
Louise E RammQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. Electronic address: Louise.Ramm@qimrberghofer.edu.au.
Lawrie W PowellQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. Electronic address: l.powell@uq.edu.au.
Grant A RammQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. Electronic address: Grant.Ramm@qimrberghofer.edu.au.
James C BartonDepartment of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA, Southern Iron Disorders Center, Birmingham, AL, USA.
V Nathan SubramaniamSchool of Biomedical Sciences, Institute of Health and Biomedical Innovation, Queensland University of Technology (QUT), Brisbane, Queensland, Australia; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. Electronic address: nathan.subramaniam@qut.edu.au.
Queensland University of Technology · AUQIMR Berghofer Medical Research Institute · AUUniversity of California, Irvine · USUniversity of Alabama at Birmingham · USVA Long Beach Healthcare System · US

Funding

Univ.of Calif., Irvine Cancer Center Support GrantP30CA062203 · NCI · UNIVERSITY OF CALIFORNIA-IRVINE · PI Melanie Funes · 1994 to 2026
$57.9M
Genetic Modifiers of Iron Status in Hemochromatosis HFE C282Y HomozygotesR24DK093433 · NIDDK · UNIVERSITY OF CALIFORNIA-IRVINE · PI MCLAREN, CHRISTINE E., MCLAREN, GORDON D · 2011 to 2011
$376k
NCI NIH HHS P30 CA062203NIDDK NIH HHS R24 DK093433
6 · The paper itself

Abstract

Glyceronephosphate O-acyltransferase (GNPAT) p.D519G (rs11558492) was identified as a genetic modifier correlated with more severe iron overload in hemochromatosis through whole-exome sequencing of HFE p.C282Y homozygotes with extreme iron phenotypes. We studied the prevalence of p.D519G in HFE p.C282Y/p.H63D compound heterozygotes, a genotype associated with iron overload in some patients. Cases were Australian participants with elevated serum ferritin (SF) levels ≥300μg/L (males) and ≥200μg/L (females); subjects whose SF levels were below these cut-offs were designated as controls. Samples were genotyped for GNPAT p.D519G. We compared the allele frequency of the present subjects, with/without elevated SF, to p.D519G frequency in public datasets. GNPAT p.D519G was more prevalent in our cohort of p.C282Y/p.H63D compound heterozygotes with elevated SF (37%) than European public datasets: 1000G 21%, gnomAD 20% and ESP 21%. We conclude that GNPAT p.D519G is associated with elevated SF in Australian HFE p.C282Y/p.H63D compound heterozygotes.

Indexed as

Point MutationAcyltransferasesAdultFemaleFerritinsHemochromatosisHemochromatosis ProteinHeterozygoteHumansMaleMiddle AgedAcyltransferasesFerritinsglycerone-phosphate O-acyltransferaseHemochromatosis ProteinHFE protein, humanGenetic modifiersGNPATHemochromatosisHFEIron overload

Identifiers

PMID32652459
PMCPMC7786288
OpenAlexW3039543512

What OpenQuestion holds

Textmetadata
LicenceTDM
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.