Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Verhoeven V.J.M., Hysi P.G., Wojciechowski R., Fan Q., Guggenheim J.A., Hohn R., Macgregor S., Hewitt A.W., Nag A., Cheng C.-Y., Yonova-Doing E., Zhou X., Ikram M.K., Buitendijk G.H.S., Mcmahon G., Kemp J.P., Pourcain B.S., Simpson C.L., Makela K.-M., Lehtimaki T., Kahonen M., Paterson A.D., Hosseini S.M., Wong H.S., Xu L., Jonas J.B., Parssinen O., Wedenoja J., Yip S.P., Ho D.W.H., Pang C.P., Chen L.J., Burdon K.P., Craig J.E., Klein B.E.K., Klein R., Haller T., Metspalu A., Khor C.-C., Tai E.-S., Aung T., Vithana E., Tay W.-T., Barathi V.A., Chen P., Li R., Liao J., Zheng Y., Ong R.T., Doring A., Evans D.M., Timpson N.J., Verkerk A.J.M.H., Meitinger T., Raitakari O., Hawthorne F., Spector T.D., Karssen L.C., Pirastu M., Murgia F., Ang W., Mishra A., Montgomery G.W., Pennell C.E., Cumberland P.M., Cotlarciuc I., Mitchell P., Wang J.J., Schache M., Janmahasathian S., Igo Jr. R.P., Lass J.H., Chew E., Iyengar S.K., Gorgels T.G.M.F., Rudan I., Hayward C., Wright A.F., Polasek O., Vatavuk Z., Wilson J.F., Fleck B., Zeller T., Mirshahi A., Muller C., Uitterlinden A.G., Rivadeneira F., Vingerling J.R., Hofman A., Oostra B.A., Amin N., Bergen A.A.B., Teo Y.-Y., Rahi J.S., Vitart V., Williams C., Baird P.N., Wong T.-Y., Oexle K., Pfeiffer N., Mackey D.A., Young T.L., Van Duijn C.M., Saw S.-M., Bailey-Wilson J.E., Stambolian D., Klaver C.C. and Hammond C.J. (2013) Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nature Genetics, 45 3: 314-318. doi:10.1038/ng.2554

Author Verhoeven V.J.M.
Hysi P.G.
Wojciechowski R.
Fan Q.
Guggenheim J.A.
Hohn R.
Macgregor S.
Hewitt A.W.
Nag A.
Cheng C.-Y.
Yonova-Doing E.
Zhou X.
Ikram M.K.
Buitendijk G.H.S.
Mcmahon G.
Kemp J.P.
Pourcain B.S.
Simpson C.L.
Makela K.-M.
Lehtimaki T.
Kahonen M.
Paterson A.D.
Hosseini S.M.
Wong H.S.
Xu L.
Jonas J.B.
Parssinen O.
Wedenoja J.
Yip S.P.
Ho D.W.H.
Pang C.P.
Chen L.J.
Burdon K.P.
Craig J.E.
Klein B.E.K.
Klein R.
Haller T.
Metspalu A.
Khor C.-C.
Tai E.-S.
Aung T.
Vithana E.
Tay W.-T.
Barathi V.A.
Chen P.
Li R.
Liao J.
Zheng Y.
Ong R.T.
Doring A.
Evans D.M.
Timpson N.J.
Verkerk A.J.M.H.
Meitinger T.
Raitakari O.
Hawthorne F.
Spector T.D.
Karssen L.C.
Pirastu M.
Murgia F.
Ang W.
Mishra A.
Montgomery G.W.
Pennell C.E.
Cumberland P.M.
Cotlarciuc I.
Mitchell P.
Wang J.J.
Schache M.
Janmahasathian S.
Igo Jr. R.P.
Lass J.H.
Chew E.
Iyengar S.K.
Gorgels T.G.M.F.
Rudan I.
Hayward C.
Wright A.F.
Polasek O.
Vatavuk Z.
Wilson J.F.
Fleck B.
Zeller T.
Mirshahi A.
Muller C.
Uitterlinden A.G.
Rivadeneira F.
Vingerling J.R.
Hofman A.
Oostra B.A.
Amin N.
Bergen A.A.B.
Teo Y.-Y.
Rahi J.S.
Vitart V.
Williams C.
Baird P.N.
Wong T.-Y.
Oexle K.
Pfeiffer N.
Mackey D.A.
Young T.L.
Van Duijn C.M.
Saw S.-M.
Bailey-Wilson J.E.
Stambolian D.
Klaver C.C.
Hammond C.J.
Title Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2013-03
Year available 2013
Sub-type Article (original research)
DOI 10.1038/ng.2554
Open Access Status
Volume 45
Issue 3
Start page 314
End page 318
Total pages 8
Place of publication New York United States
Publisher Nature Publishing Group
Collection year 2014
Language eng
Formatted abstract
Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
UQ Diamantina Institute Publications
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