Refereed journal article or data article (A1)
IMI - Myopia Genetics Report
List of Authors: Tedja 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
Publisher: ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Publication year: 2019
Journal: Investigative Ophthalmology & Visual Science
Journal name in source: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Journal acronym: INVEST OPHTH VIS SCI
Volume number: 60
Issue number: 3
Start page: M89
End page: M105
Number of pages: 17
ISSN: 0146-0404
eISSN: 1552-5783
DOI: http://dx.doi.org/10.1167/iovs.18-25965
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/39910051
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.
Downloadable publication This is an electronic reprint of the original article. |