Evidence map›Paper›PMID 23468642›Full record

ArticlePLoS genetics2013

Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia.

Amy K Kiefer, Joyce Y Tung, Chuong B Do, David A Hinds, Joanna L Mountain, Uta Francke, Nicholas Eriksson

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 175 papers, 14 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
175citing papers in PubMed, 14 pooled it
18.5field-weighted citation impact, top 1% 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

175 citing papers in PubMed, 14 syntheses or guidelines pooled it, 309 citations in OpenAlex.

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  17. Visual activity and its association with myopia stabilisation.Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) · 2014
    Trial
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115 more citing papers are in PubMed but not listed here.

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

7 authors at 1 institution in 1 country.

Amy K Kiefer23andMe, Mountain View, California, United States of America.
Joyce Y Tung
Chuong B Do
David A Hinds
Joanna L Mountain
Uta Francke
Nicholas Eriksson
23andMe (United States) · US

Funding

Development of a web-based database and research engine for genetic discoveryR44HG006981 · NHGRI · 23ANDME, INC. · PI MOUNTAIN, JOANNA L. · 2013 to 2014
$1.4M
NHGRI NIH HHS R44 HG006981
6 · The paper itself

Abstract

Myopia, or nearsightedness, is the most common eye disorder, resulting primarily from excess elongation of the eye. The etiology of myopia, although known to be complex, is poorly understood. Here we report the largest ever genome-wide association study (45,771 participants) on myopia in Europeans. We performed a survival analysis on age of myopia onset and identified 22 significant associations ([Formula: see text]), two of which are replications of earlier associations with refractive error. Ten of the 20 novel associations identified replicate in a separate cohort of 8,323 participants who reported if they had developed myopia before age 10. These 22 associations in total explain 2.9% of the variance in myopia age of onset and point toward a number of different mechanisms behind the development of myopia. One association is in the gene PRSS56, which has previously been linked to abnormally small eyes; one is in a gene that forms part of the extracellular matrix (LAMA2); two are in or near genes involved in the regeneration of 11-cis-retinal (RGR and RDH5); two are near genes known to be involved in the growth and guidance of retinal ganglion cells (ZIC2, SFRP1); and five are in or near genes involved in neuronal signaling or development. These novel findings point toward multiple genetic factors involved in the development of myopia and suggest that complex interactions between extracellular matrix remodeling, neuronal development, and visual signals from the retina may underlie the development of myopia in humans.

Indexed as

Extracellular MatrixEyeGenome-Wide Association StudyMyopiaGenetic Predisposition to DiseaseHumansNeuronsRefractive ErrorsRetinaRetinal Ganglion CellsSerine ProteasesPRSS56 protein, humanSerine Proteases

Identifiers

PMID23468642
PMCPMC3585144
OpenAlexW2058685320

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.