Refereed journal article or data article (A1)

IMI - Myopia Genetics Report




List of AuthorsTedja MS, Haarman AEG, Meester-Smoor MA, Kaprio J, Mackey DA, Guggenheim JA, Hammond CJ, Verhoeven VJM, Klaver CCW, Bailey-Wilson JE, Baird PN, Veluchamy AB, Biino G, Burdon KP, Campbell H, Chen LJ, Cheng CY, Chew EY, Craig JE, Cumberland PM, Deangelis MM, Delcourt C, Ding XH, van Duijn CM, Evans DM, Fan Q, Fossarello M, Foster PJ, Gharahkhani P, Iglesias AI, Guol XB, Haller T, Han XK, Hayward C, He MG, Hewitt AW, Hoang Q, Hysi PG, Igo RP, Iyengar SK, Jonas JB, Kahonen M, Khawaja AP, Klein BE, Klein R, Lass JH, Lee K, Lehtimaki T, Lewis D, Li Q, Li SM, Lyytikainen LP, MacGregor S, Martin NG, Meguro A, Metspalu A, Middlebrooks C, Miyake M, Mizuki N, Musolf A, Nickels S, Oexle K, Pang CP, Parssinen O, Paterson AD, Pfeiffer N, Polasek O, Rahi JS, Raitakari O, Rudan I, Sahebjada S, Saw SM, Stambolian D, Simpson CL, Tai ES, Tideman JWL, Tsujikawa A, Verhoeven VJM, Vitart V, Wang NL, Wedenoja J, Wei WB, Williams C, Williams KM, Wilson JF, Wojciechowski R, Wang YX, Yamashiro K, Yam JCS, Yap MKH, Yazar S, Yip SP, Young TL, Zhou XT, Young TL, Yip SP, Zhou XT, Yazar S

PublisherASSOC RESEARCH VISION OPHTHALMOLOGY INC

Publication year2019

JournalInvestigative Ophthalmology & Visual Science

Journal name in sourceINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Journal acronymINVEST OPHTH VIS SCI

Volume number60

Issue number3

Start pageM89

End pageM105

Number of pages17

ISSN0146-0404

eISSN1552-5783

DOIhttp://dx.doi.org/10.1167/iovs.18-25965

Self-archived copy’s web addresshttps://research.utu.fi/converis/portal/detail/Publication/39910051


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.

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Last updated on 2022-07-04 at 17:18