Abstract
| Original language | English |
|---|---|
| Pages (from-to) | 264-277 |
| Number of pages | 14 |
| Journal | American Journal of Human Genetics |
| Volume | 93 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 8 Aug 2013 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
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Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. / Cheng, Ching Yu; Schache, Maria; Ikram, M. Kamran; Young, Terri L.; Guggenheim, Jeremy A.; Vitart, Veronique; MacGregor, Stuart; Verhoeven, Virginie J.M.; Barathi, Veluchamy A.; Liao, Jiemin; Hysi, Pirro G.; Bailey-Wilson, Joan E.; St. Pourcain, Beate; Kemp, John P.; McMahon, George; Timpson, Nicholas J.; Evans, David M.; Montgomery, Grant W.; Mishra, Aniket; Wang, Ya Xing; Wang, Jie Jin; Rochtchina, Elena; Polasek, Ozren; Wright, Alan F.; Amin, Najaf; Van Leeuwen, Elisabeth M.; Wilson, James F.; Pennell, Craig E.; Van Duijn, Cornelia M.; De Jong, Paulus T.V.M.; Vingerling, Johannes R.; Zhou, Xin; Chen, Peng; Li, Ruoying; Tay, Wan Ting; Zheng, Yingfeng; Chew, Merwyn; Burdon, Kathryn P.; Craig, Jamie E.; Iyengar, Sudha K.; Igo, Robert P.; Lass, Jonathan H.; Chew, Emily Y.; Haller, Toomas; Mihailov, Evelin; Metspalu, Andres; Wedenoja, Juho; Simpson, Claire L.; Wojciechowski, Robert; Höhn, René; Mirshahi, Alireza; Zeller, Tanja; Pfeiffer, Norbert; Lackner, Karl J.; Bettecken, Thomas; Meitinger, Thomas; Oexle, Konrad; Pirastu, Mario; Portas, Laura; Nag, Abhishek; Williams, Katie M.; Yonova-Doing, Ekaterina; Klein, Ronald; Klein, Barbara E.; Hosseini, S. Mohsen; Paterson, Andrew D.; Makela, Kari Matti; Lehtimaki, Terho; Kahonen, Mika; Raitakari, Olli; Yoshimura, Nagahisa; Matsuda, Fumihiko; Yip, Shea Ping.
In: American Journal of Human Genetics, Vol. 93, No. 2, 08.08.2013, p. 264-277.Research output: Journal article publication › Journal article › Academic research › peer-review
TY - JOUR
T1 - Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error
AU - Cheng, Ching Yu
AU - Schache, Maria
AU - Ikram, M. Kamran
AU - Young, Terri L.
AU - Guggenheim, Jeremy A.
AU - Vitart, Veronique
AU - MacGregor, Stuart
AU - Verhoeven, Virginie J.M.
AU - Barathi, Veluchamy A.
AU - Liao, Jiemin
AU - Hysi, Pirro G.
AU - Bailey-Wilson, Joan E.
AU - St. Pourcain, Beate
AU - Kemp, John P.
AU - McMahon, George
AU - Timpson, Nicholas J.
AU - Evans, David M.
AU - Montgomery, Grant W.
AU - Mishra, Aniket
AU - Wang, Ya Xing
AU - Wang, Jie Jin
AU - Rochtchina, Elena
AU - Polasek, Ozren
AU - Wright, Alan F.
AU - Amin, Najaf
AU - Van Leeuwen, Elisabeth M.
AU - Wilson, James F.
AU - Pennell, Craig E.
AU - Van Duijn, Cornelia M.
AU - De Jong, Paulus T.V.M.
AU - Vingerling, Johannes R.
AU - Zhou, Xin
AU - Chen, Peng
AU - Li, Ruoying
AU - Tay, Wan Ting
AU - Zheng, Yingfeng
AU - Chew, Merwyn
AU - Burdon, Kathryn P.
AU - Craig, Jamie E.
AU - Iyengar, Sudha K.
AU - Igo, Robert P.
AU - Lass, Jonathan H.
AU - Chew, Emily Y.
AU - Haller, Toomas
AU - Mihailov, Evelin
AU - Metspalu, Andres
AU - Wedenoja, Juho
AU - Simpson, Claire L.
AU - Wojciechowski, Robert
AU - Höhn, René
AU - Mirshahi, Alireza
AU - Zeller, Tanja
AU - Pfeiffer, Norbert
AU - Lackner, Karl J.
AU - Bettecken, Thomas
AU - Meitinger, Thomas
AU - Oexle, Konrad
AU - Pirastu, Mario
AU - Portas, Laura
AU - Nag, Abhishek
AU - Williams, Katie M.
AU - Yonova-Doing, Ekaterina
AU - Klein, Ronald
AU - Klein, Barbara E.
AU - Hosseini, S. Mohsen
AU - Paterson, Andrew D.
AU - Makela, Kari Matti
AU - Lehtimaki, Terho
AU - Kahonen, Mika
AU - Raitakari, Olli
AU - Yoshimura, Nagahisa
AU - Matsuda, Fumihiko
AU - Yip, Shea Ping
PY - 2013/8/8
Y1 - 2013/8/8
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84881647995&partnerID=8YFLogxK
U2 - 10.1016/j.ajhg.2013.06.016
DO - 10.1016/j.ajhg.2013.06.016
M3 - Journal article
C2 - 24144296
VL - 93
SP - 264
EP - 277
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 2
ER -