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| PMID |
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| TITLE |
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| IMI - Myopia Genetics Report. |
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| ABSTRACT |
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| The knowledge on the genetic background of refractive error and myopia has expanded dramatically in the past few years. This white paper aims to provide a concise summary of current genetic findings and defines the direction where development is needed. We performed an extensive literature search and conducted informal discussions with key stakeholders. Specific topics reviewed included common refractive error, any and high myopia, and myopia related to syndromes. To date, almost 200 genetic loci have been identified for refractive error and myopia, and risk variants mostly carry low risk but are highly prevalent in the general population. Several genes for secondary syndromic myopia overlap with those for common myopia. Polygenic risk scores show overrepresentation of high myopia in the higher deciles of risk. Annotated genes have a wide variety of functions, and all retinal layers appear to be sites of expression. The current genetic findings offer a world of new molecules involved in myopiagenesis. As the missing heritability is still large, further genetic advances are needed. This Committee recommends expanding large-scale, in-depth genetic studies using complementary big data analytics, consideration of gene-environment effects by thorough measurement of environmental exposures, and focus on subgroups with extreme phenotypes and high familial occurrence. Functional characterization of associated variants is simultaneously needed to bridge the knowledge gap between sequence variance and consequence for eye growth. |
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| DATE PUBLISHED |
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| HISTORY |
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| PUBSTATUS |
PUBSTATUSDATE |
| entrez |
2019/03/01 06:00 |
| pubmed |
2019/03/01 06:00 |
| medline |
2019/08/17 06:00 |
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| AUTHORS |
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| NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
| Tedja MS |
|
Tedja |
Milly S |
MS |
|
Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands. |
| Haarman AEG |
|
Haarman |
Annechien E G |
AEG |
|
Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands. |
| Meester-Smoor MA |
|
Meester-Smoor |
Magda A |
MA |
|
Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands. |
| Kaprio J |
|
Kaprio |
Jaakko |
J |
|
Department of Public Health, University of Helsinki, Helsinki, Finland. |
| Mackey DA |
|
Mackey |
David A |
DA |
|
Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia. |
| Guggenheim JA |
|
Guggenheim |
Jeremy A |
JA |
|
School of Optometry and Vision Sciences, Cardiff University, Cardiff, United Kingdom. |
| Hammond CJ |
|
Hammond |
Christopher J |
CJ |
|
Section of Academic Ophthalmology, School of Life Course Sciences, King's College London, London, United Kingdom. |
| Verhoeven VJM |
|
Verhoeven |
Virginie J M |
VJM |
|
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands. |
| Klaver CCW |
|
Klaver |
Caroline C W |
CCW |
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Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands. |
|
CREAM Consortium |
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| INVESTIGATORS |
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| JOURNAL |
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| VOLUME: 60 |
| ISSUE: 3 |
| TITLE: Investigative ophthalmology & visual science |
| ISOABBREVIATION: Invest. Ophthalmol. Vis. Sci. |
| YEAR: 2019 |
| MONTH: 02 |
| DAY: 28 |
| MEDLINEDATE: |
| SEASON: |
| CITEDMEDIUM: Internet |
| ISSN: 1552-5783 |
| ISSNTYPE: Electronic |
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| MEDLINE JOURNAL |
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| MEDLINETA: Invest Ophthalmol Vis Sci |
| COUNTRY: United States |
| ISSNLINKING: 0146-0404 |
| NLMUNIQUEID: 7703701 |
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| PUBLICATION TYPE |
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| PUBLICATIONTYPE TEXT |
| Journal Article |
| Research Support, N.I.H., Extramural |
| Research Support, Non-U.S. Gov't |
| Review |
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| COMMENTS AND CORRECTIONS |
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| GRANTS |
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| GRANTID |
AGENCY |
COUNTRY |
| R01 EY020483 |
NEI NIH HHS |
United States |
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| GENERAL NOTE |
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| KEYWORDS |
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| MESH HEADINGS |
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| DESCRIPTORNAME |
QUALIFIERNAME |
| Gene-Environment Interaction |
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| Genetic Linkage |
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| Genetic Predisposition to Disease |
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| Genome-Wide Association Study |
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| Humans |
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| Internationality |
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| Myopia |
genetics |
| Risk Factors |
genetics |
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| SUPPLEMENTARY MESH |
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| GENE SYMBOLS |
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| CHEMICALS |
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| OTHER ID's |
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