IMI - Myopia Genetics Report
Tsujikawa A; Williams C; Hysi PG; Vitart V; Miyake M; Saw SM; Verhoeven VJM; Klaver CCW; Paterson AD; Tedja MS; Klein R; Veluchamy AB; Pfeiffer N; Kaprio J; Yam JCS; Li SM; Pang CP; Jonas JB; Lyytikainen LP; van Duijn CM; Wojciechowski R; Raitakari O; Rahi JS; Biino G; Hoang Q; Campbell H; Wang NL; Sahebjada S; Delcourt C; Igo RP; Middlebrooks C; He MG; Fossarello M; Tai ES; Yip SP; Yamashiro K; Lehtimaki T; Wedenoja J; Craig JE; Li Q; Mizuki N; Hammond CJ; Stambolian D; Evans DM; Han XK; Polasek O; Gharahkhani P; Simpson CL; Lass JH; Cumberland PM; Lewis D; Parssinen O; Meester-Smoor MA; Young TL; Chen LJ; Nickels S; Williams KM; Yazar S; Guggenheim JA; Guol XB; Haller T; Burdon KP; Foster PJ; Fan Q; Iglesias AI; Hayward C; Zhou XT; Musolf A; Mackey DA; MacGregor S; Bailey-Wilson JE; Tideman JWL; Wei WB; Rudan I; Hewitt AW; Wang YX; Haarman AEG; Baird PN; Khawaja AP; Klein BE; Metspalu A; Kahonen M; Lee K; Ding XH; Wilson JF; Cheng CY; Meguro A; Oexle K; Iyengar SK; Yap MKH; Chew EY; Martin NG; Deangelis MM
IMI - Myopia Genetics Report
Tsujikawa A
Williams C
Hysi PG
Vitart V
Miyake M
Saw SM
Verhoeven VJM
Klaver CCW
Paterson AD
Tedja MS
Klein R
Veluchamy AB
Pfeiffer N
Kaprio J
Yam JCS
Li SM
Pang CP
Jonas JB
Lyytikainen LP
van Duijn CM
Wojciechowski R
Raitakari O
Rahi JS
Biino G
Hoang Q
Campbell H
Wang NL
Sahebjada S
Delcourt C
Igo RP
Middlebrooks C
He MG
Fossarello M
Tai ES
Yip SP
Yamashiro K
Lehtimaki T
Wedenoja J
Craig JE
Li Q
Mizuki N
Hammond CJ
Stambolian D
Evans DM
Han XK
Polasek O
Gharahkhani P
Simpson CL
Lass JH
Cumberland PM
Lewis D
Parssinen O
Meester-Smoor MA
Young TL
Chen LJ
Nickels S
Williams KM
Yazar S
Guggenheim JA
Guol XB
Haller T
Burdon KP
Foster PJ
Fan Q
Iglesias AI
Hayward C
Zhou XT
Musolf A
Mackey DA
MacGregor S
Bailey-Wilson JE
Tideman JWL
Wei WB
Rudan I
Hewitt AW
Wang YX
Haarman AEG
Baird PN
Khawaja AP
Klein BE
Metspalu A
Kahonen M
Lee K
Ding XH
Wilson JF
Cheng CY
Meguro A
Oexle K
Iyengar SK
Yap MKH
Chew EY
Martin NG
Deangelis MM
ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Julkaisun pysyvä osoite on:
https://urn.fi/URN:NBN:fi-fe2021042827134
https://urn.fi/URN:NBN:fi-fe2021042827134
Tiivistelmä
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.
Kokoelmat
- Rinnakkaistallenteet [19207]