Evidence map›Paper›PMID 29215094›Full record

ArticleJournal of human genetics2018

Expression QTL analysis of glaucoma endophenotypes in the Norfolk Island isolate provides evidence that immune-related genes are associated with optic disc size.

Pik Fang Kho, Rodney A Lea, Miles C Benton, David Eccles, Larisa M Haupt, Alex W Hewitt, Justin C Sherwin, David A Mackey, Lyn R Griffiths

Abstract read
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In one paragraph

Article in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 39% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. 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

9 authors at 5 institutions in 1 country.

Pik Fang KhoGenomics Research Centre, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia.
Rodney A LeaGenomics Research Centre, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia.
Miles C BentonGenomics Research Centre, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia.
David EcclesGenomics Research Centre, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia.
Larisa M HauptGenomics Research Centre, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia.
Alex W HewittCentre for Eye Research Australia & Royal Victorian Eye and Ear Hospital, University of Melbourne, East Melbourne, VIC, Australia.
Justin C SherwinCentre for Eye Research Australia & Royal Victorian Eye and Ear Hospital, University of Melbourne, East Melbourne, VIC, Australia.
David A MackeyInstitute for Medical Research, School of Medicine, Menzies University of Tasmania, Hobart, TAS, Australia.
Lyn R GriffithsGenomics Research Centre, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia. lyn.griffiths@qut.edu.au.ORCID http://orcid.org/0000-0002-6774-5475
Queensland University of Technology · AUGriffith University · AULions Eye Institute · AUThe University of Melbourne · AUUniversity of Tasmania · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primary open-angle glaucoma (POAG) is influenced by both genetic and environmental factors. Despite significant progress in identifying genetic variants associated with POAG, there remains a substantial amount of unexplained heritability. Study design features that may enhance knowledge of the genetic architecture include focusing on multiple quantitative traits related to ocular disorders (i.e. endophenotypes), targeting genetic variants that directly influence gene expression (i.e. cis-eQTLs) and utilising genetically isolated populations to reduce genetic and environmental noise and thus enhance association signals. In this study we performed heritability and blood-based eQTL association analysis of five key POAG endophenotypes in 330 individuals from the Norfolk Island (NI) isolate. Results showed evidence of heritability for all five traits, with H

Indexed as

1-Acylglycerophosphocholine O-AcyltransferaseButyrophilinsGene Expression RegulationGlaucoma, Open-AngleOptic DiskPolymorphism, Single NucleotideQuantitative Trait, HeritableFemaleHumansMaleMelanesiaPhenotype1-Acylglycerophosphocholine O-AcyltransferaseBTN3A2 protein, humanButyrophilinsLPCAT2 protein, human

Identifiers

PMID29215094
OpenAlexW2769009236

What OpenQuestion holds

Textmetadata
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.