Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

Cheng C.-Y., Schache M., Ikram M.K., Young T.L., Guggenheim J.A., Vitart V., MacGregor S., Verhoeven V.J.M., Barathi V.A., Liao J., Hysi P.G., Bailey-Wilson J.E., St. Pourcain B., Kemp J.P., McMahon G., Timpson N.J., Evans D.M., Montgomery G.W., Mishra A., Wang Y.X., Wang J.J., Rochtchina E., Polasek O., Wright A.F., Amin N., Van Leeuwen E.M., Wilson J.F., Pennell C.E., Van Duijn C.M., De Jong P.T.V.M., Vingerling J.R., Zhou X., Chen P., Li R., Tay W.-T., Zheng Y., Chew M., Burdon K.P., Craig J.E., Iyengar S.K., Igo Jr. R.P., Lass Jr. J.H., Chew E.Y., Haller T., Mihailov E., Metspalu A., Wedenoja J., Simpson C.L., Wojciechowski R., Hohn R., Mirshahi A., Zeller T., Pfeiffer N., Lackner K.J., Bettecken T., Meitinger T., Oexle K., Pirastu M., Portas L., Nag A., Williams K.M., Yonova-Doing E., Klein R., Klein B.E., Hosseini S.M., Paterson A.D., Makela K.-M., Lehtimaki T., Kahonen M., Raitakari O., Yoshimura N., Matsuda F., Chen L.J., Pang C.P., Yip S.P., Yap M.K.H., Meguro A., Mizuki N., Inoko H., Foster P.J., Zhao J.H., Vithana E., Tai E.-S., Fan Q., Xu L., Campbell H., Fleck B., Rudan I., Aung T., Hofman A., Uitterlinden A.G., Bencic G., Khor C.-C., Forward H., Parssinen O., Mitchell P., Rivadeneira F., Hewitt A.W., Williams C., Oostra B.A., Teo Y.-Y., Hammond C.J., Stambolian D., MacKey D.A., Klaver C.C.W., Wong T.-Y., Saw S.-M. and Baird P.N. (2013) Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. American Journal of Human Genetics, 93 2: 264-277. doi:10.1016/j.ajhg.2013.06.016

Author Cheng C.-Y.
Schache M.
Ikram M.K.
Young T.L.
Guggenheim J.A.
Vitart V.
MacGregor S.
Verhoeven V.J.M.
Barathi V.A.
Liao J.
Hysi P.G.
Bailey-Wilson J.E.
St. Pourcain B.
Kemp J.P.
McMahon G.
Timpson N.J.
Evans D.M.
Montgomery G.W.
Mishra A.
Wang Y.X.
Wang J.J.
Rochtchina E.
Polasek O.
Wright A.F.
Amin N.
Van Leeuwen E.M.
Wilson J.F.
Pennell C.E.
Van Duijn C.M.
De Jong P.T.V.M.
Vingerling J.R.
Zhou X.
Chen P.
Li R.
Tay W.-T.
Zheng Y.
Chew M.
Burdon K.P.
Craig J.E.
Iyengar S.K.
Igo Jr. R.P.
Lass Jr. J.H.
Chew E.Y.
Haller T.
Mihailov E.
Metspalu A.
Wedenoja J.
Simpson C.L.
Wojciechowski R.
Hohn R.
Mirshahi A.
Zeller T.
Pfeiffer N.
Lackner K.J.
Bettecken T.
Meitinger T.
Oexle K.
Pirastu M.
Portas L.
Nag A.
Williams K.M.
Yonova-Doing E.
Klein R.
Klein B.E.
Hosseini S.M.
Paterson A.D.
Makela K.-M.
Lehtimaki T.
Kahonen M.
Raitakari O.
Yoshimura N.
Matsuda F.
Chen L.J.
Pang C.P.
Yip S.P.
Yap M.K.H.
Meguro A.
Mizuki N.
Inoko H.
Foster P.J.
Zhao J.H.
Vithana E.
Tai E.-S.
Fan Q.
Xu L.
Campbell H.
Fleck B.
Rudan I.
Aung T.
Hofman A.
Uitterlinden A.G.
Bencic G.
Khor C.-C.
Forward H.
Parssinen O.
Mitchell P.
Rivadeneira F.
Hewitt A.W.
Williams C.
Oostra B.A.
Teo Y.-Y.
Hammond C.J.
Stambolian D.
MacKey D.A.
Klaver C.C.W.
Wong T.-Y.
Saw S.-M.
Baird P.N.
Title Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error
Journal name American Journal of Human Genetics   Check publisher's open access policy
ISSN 0002-9297
Publication date 2013-08-08
Year available 2013
Sub-type Article (original research)
DOI 10.1016/j.ajhg.2013.06.016
Volume 93
Issue 2
Start page 264
End page 277
Total pages 14
Place of publication Cambridge, United States
Publisher Cell Press
Language eng
Formatted abstract
Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL (RSPO1, C3orf26, LAMA2, GJD2, ZNRF3, CD55, MIP, and ALPPL2) and confirmed one previously reported AL locus (ZC3H11B). Of the nine loci, five (LAMA2, GJD2, CD55, ALPPL2, and ZC3H11B) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse experiments and human ocular tissues. Two of the AL genes, RSPO1 and ZNRF3, are involved in Wnt signaling, a pathway playing a major role in the regulation of eyeball size. This study provides evidence of shared genes between AL and refraction, but importantly also suggests that these traits may have unique pathways.
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
School of Medicine Publications
UQ Diamantina Institute Publications
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Created: Thu, 20 Mar 2014, 01:58:33 EST by Kylie Hengst on behalf of UQ Diamantina Institute