Evidence map›Paper›PMID 32926103›Full record

ArticleInvestigative ophthalmology & visual science2020

The Role of Chromosome X in Intraocular Pressure Variation and Sex-Specific Effects.

Mark J Simcoe, Anthony P Khawaja, Omar A Mahroo, Christopher J Hammond, Pirro G Hysi, UK Biobank Eye and Vision Consortium

Open access · goldAbstract read
In one paragraph

Article in Investigative ophthalmology & visual science, 2020. 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
0.8field-weighted citation impact, top 27% 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, 9 citations in OpenAlex.

  1. Article
  2. An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy X.American journal of medical genetics. Part C, Seminars in medical genetics · 2024
    Article
  3. Article
  4. Review
  5. 10 Years of GWAS in intraocular pressure.Frontiers in genetics · 2023
    Review
  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

6 authors at 3 institutions in 1 country.

Mark J SimcoeDepartment of Ophthalmology, Kings College London, London, United Kingdom.
Anthony P KhawajaNIHR Biomedical Research Centre, Moorfield's Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, United Kingdom.
Omar A MahrooInstitute of Ophthalmology, University College London, London, United Kingdom.
Christopher J HammondDepartment of Ophthalmology, Kings College London, London, United Kingdom.
Pirro G HysiDepartment of Ophthalmology, Kings College London, London, United Kingdom.
UK Biobank Eye and Vision Consortium
King's College London · GBUniversity College London · GBUniversity of Cambridge · GB

Funding

Cancer Research UK 14136Medical Research Council G0401527Medical Research Council G0500300Medical Research Council G1000143Medical Research Council MC_PC_13048Medical Research Council MC-UU_12015/1Medical Research Council MR/N003284/1Medical Research Council MR/T040912/1Wellcome TrustWellcome Trust 206619/Z/17/Z
6 · The paper itself

Abstract

Purpose: The purpose of this study was to identify genetic variants on chromosome X associated with intraocular pressure (IOP) and determine if they possess any sex-specific effects. Methods: Association analyses were performed across chromosome X using 102,407 participants from the UK Biobank. Replication and validation analyses were conducted in an additional 6599 participants from the EPIC-Norfolk cohort, and an independent 331,682 participants from the UK Biobank. Results: We identified three loci associated with IOP at genomewide significance (P < 5 × 10-8), located within or near the following genes: MXRA5 (rs2107482, P = 7.1 × 10-11), GPM6B (rs66819623, P = 6.9 × 10-10), NDP, and EFHC2 (rs12558081, P = 4.9 × 10-11). Alleles associated with increased IOP were also associated with increased risk for primary open-angle glaucoma in an independent sample. Finally, our results indicate that chromosome X genetics most likely do not illicit sex-specific effects on IOP. Conclusions: In this study, we report the results of genomewide levels of association of three loci on chromosome X with IOP, and provide a framework to include chromosome X in large-scale genomewide association analyses for complex phenotypes.

Indexed as

Genetic Predisposition to DiseasePolymorphism, Single NucleotideChromosomes, Human, XFemaleGenome-Wide Association StudyGenotypeGlaucoma, Open-AngleHumansIntraocular PressureMalePhenotypeSex Factors

Identifiers

PMID32926103
PMCPMC7490223
OpenAlexW3084608394

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.