IMI - Myopia Genetics Report

Investigative Ophthalmology & Visual Science
Milly S TedjaCREAM Consortium

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 e...Continue Reading

References

Jan 1, 1988·Acta Ophthalmologica. Supplement·L L Lin, C J Chen
Sep 1, 1969·American Journal of Optometry and Archives of American Academy of Optometry·F A YoungC Johnson
Oct 1, 1993·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·M R AngiC Bisantis
Oct 30, 1998·American Journal of Human Genetics·T L YoungR A King
Apr 25, 2000·Journal of Medical Genetics·J A GuggenheimS A Hodson
Oct 16, 2001·Nature Genetics·J P IoannidisD G Contopoulos-Ioannidis
Feb 12, 2002·Journal of Medical Genetics·L NaiglinP Calvas
May 16, 2002·Clinical & Experimental Ophthalmology·Kathryn A RosePaul Mitchell
Feb 26, 2003·Investigative Ophthalmology & Visual Science·Dennis Shun Chiu LamChi Pui Pang
Apr 26, 2003·Investigative Ophthalmology & Visual Science·Prasuna PaluruTerri L Young
Dec 20, 2003·Nature·UNKNOWN International HapMap Consortium
Apr 13, 2004·International Journal of Epidemiology·George Davey Smith, Shah Ebrahim
Nov 24, 2004·Progress in Retinal and Eye Research·Ian Morgan, Kathryn Rose
Sep 20, 2005·Lancet·M Dawn Teare, Jennifer H Barrett
Sep 27, 2005·Lancet·Heather J Cordell, David G Clayton
May 26, 2006·Investigative Ophthalmology & Visual Science·Wei HanShea Ping Yip
Oct 21, 2006·Science·Andrew DewanJosephine Hoh
Oct 27, 2006·Investigative Ophthalmology & Visual Science·Mohamed DiraniPaul N Baird
Dec 1, 2006·The British Journal of Ophthalmology·Jeremy A GuggenheimSeang Mei Saw
Jun 9, 2007·Human Genetics·Yumiko InamoriNobuhisa Mizuki
Aug 29, 2007·Investigative Ophthalmology & Visual Science·Jon A PeetDwight Stambolian
Apr 1, 1925·The British Journal of Ophthalmology·W S Duke-Elder
Apr 19, 2008·Investigative Ophthalmology & Visual Science·Ching Yan LamDennis S C Lam
Sep 2, 2008·Investigative Ophthalmology & Visual Science·Margarida C LopesChristopher J Hammond
Nov 26, 2008·American Journal of Ophthalmology·Elise CinerDwight Stambolian
Jan 7, 2009·Investigative Ophthalmology & Visual Science·Wei HanShea Ping Yip
Jan 20, 2009·Investigative Ophthalmology & Visual Science·Robert WojciechowskiJoan E Bailey-Wilson
Mar 13, 2009·Investigative Ophthalmology & Visual Science·Nigel F HallChristopher N Martyn
Apr 15, 2009·Archives of Ophthalmology·Yi ZhaShea Ping Yip
Apr 24, 2009·Investigative Ophthalmology & Visual Science·Ravikanth MetlapallyTerri L Young
Jun 9, 2009·Ophthalmology·Chiea C KhorSeang-Mei Saw
Jun 19, 2009·The Journal of Investigative Dermatology·Jamison D FeramiscoHensin Tsao
Jul 10, 2009·Current Opinion in Ophthalmology·Dana M Hornbeak, Terri L Young
Aug 28, 2009·Seminars in Reproductive Medicine·Cathérine DupontCarol A Brenner

❮ Previous
Next ❯

Citations

Mar 1, 2019·Investigative Ophthalmology & Visual Science·Daniel Ian FlitcroftLawrence Yannuzzi
Mar 1, 2019·Investigative Ophthalmology & Visual Science·James S WolffsohnChristine F Wildsoet
May 31, 2019·JAMA Ophthalmology·Maria A WoodwardPaula Anne Newman-Casey
Mar 14, 2020·Ophthalmic Genetics·Kai Xiong CheongBryan Chin Hou Ang
Apr 28, 2020·Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (Optometrists)·Mark A Bullimore, Kathryn Richdale
May 27, 2020·Current Eye Research·Kai Xiong CheongBryan Chin Hou Ang
Jul 30, 2020·Investigative Ophthalmology & Visual Science·Nethrajeith SrinivasaluXiangtian Zhou
Jul 31, 2020·PloS One·Valentina Bilbao-MalavéAlfredo Garcia-Layana
Aug 18, 2020·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Bhim Bahadur RaiTed Maddess
Nov 14, 2019·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·L BatresG Carracedo
Apr 1, 2020·Molecular Genetics and Genomics : MGG·Alfred PozarickijUNKNOWN and the UK Biobank Eye and Vision Consortium
Aug 21, 2020·The British Journal of Ophthalmology·Fen Fen LiLi Jia Chen
May 7, 2020·Journal of Clinical Medicine·Katarzyna PowierzaAlina Bakunowicz-Łazarczyk
Nov 21, 2020·PloS One·Pavan Kumar VerkicharlaAnthony Vipin Das
Dec 18, 2020·Nature Reviews. Disease Primers·Paul N BairdMingguang He
Jan 24, 2021·Orphanet Journal of Rare Diseases·Noémi SzéllZoltán Sohajda
Nov 5, 2019·Trends in Pharmacological Sciences·Tatiana V Tkatchenko, Andrei V Tkatchenko
Mar 7, 2021·Journal of Clinical Medicine·Cristina Alvarez-PeregrinaCesar Villa-Collar
Mar 13, 2021·Advances in Medical Sciences·Joanna SwierkowskaMarzena Gajecka
Apr 4, 2021·Genes·Cristina Alvarez-PeregrinaMiguel Ángel Sánchez-Tena
Mar 30, 2021·Contact Lens & Anterior Eye : the Journal of the British Contact Lens Association·James S WolffsohnFiona Stapleton
Apr 9, 2021·JAMA Ophthalmology·J Willem L TidemanUNKNOWN UK Biobank Eye and Vision Consortium and the Consortium for Refractive Error and Myopia (CREAM Consortium)
Apr 29, 2021·Investigative Ophthalmology & Visual Science·Monica JongEarl L Smith
Apr 29, 2021·Investigative Ophthalmology & Visual Science·Kyoko Ohno-MatsuiJost B Jonas
Apr 29, 2021·Investigative Ophthalmology & Visual Science·Ian G MorganJeremy A Guggenheim
Jun 3, 2021·International Journal of Environmental Research and Public Health·Cristina Alvarez-PeregrinaMiguel Ángel Sánchez-Tena
Jul 7, 2021·Experimental Eye Research·Jody A SummersAndrei V Tkatchenko
Aug 8, 2021·The British Journal of Ophthalmology·Julia V StinglAlexander K Schuster
Jul 27, 2021·Current Opinion in Ophthalmology·Li Lian FooDaniel Shu Wei Ting
Aug 19, 2021·Investigative Ophthalmology & Visual Science·Annechien E G HaarmanCaroline C W Klaver
Aug 24, 2021·Journal of Tropical Medicine·Qin WangChun-Fang Wang
Sep 22, 2021·Ophthalmic Epidemiology·Xiyan ZhangChen-Wei Pan
Oct 6, 2021·Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (Optometrists)·Brian An PengMonica Jong
Oct 15, 2021·Eye·Xiaotong HanMingguang He
Nov 18, 2021·Investigative Ophthalmology & Visual Science·Peiyuan WangUNKNOWN GSHM study group

❮ Previous
Next ❯

Methods Mentioned

BETA
dissection
genotyping

Software Mentioned

GEWIS
23andMe
CREAM

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.