Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
QIMR Home Page
GenEpi Home Page
Publications
Contacts
Research
Staff Index
Collaborators
Software Tools
Computing Resources
Studies
Search
GenEpi Intranet
PMID
30817828
TITLE
IMI - Myopia Genetics Report.
ABSTRACT
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.
DATE PUBLISHED
2019 02 28
HISTORY
PUBSTATUS PUBSTATUSDATE
entrez 2019/03/01 06:00
pubmed 2019/03/01 06:00
medline 2019/08/17 06:00
AUTHORS
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 Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.
CREAM Consortium
INVESTIGATORS
JOURNAL
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
MEDLINE JOURNAL
MEDLINETA: Invest Ophthalmol Vis Sci
COUNTRY: United States
ISSNLINKING: 0146-0404
NLMUNIQUEID: 7703701
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
R01 EY020483 NEI NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Gene-Environment Interaction
Genetic Linkage
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Internationality
Myopia genetics
Risk Factors genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's