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Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error

Overview of attention for article published in American Journal of Human Genetics, August 2013
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Title
Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error
Published in
American Journal of Human Genetics, August 2013
DOI 10.1016/j.ajhg.2013.06.016
Pubmed ID
Authors

Ching-Yu Cheng, Maria Schache, M. Kamran Ikram, Terri L. Young, Jeremy A. Guggenheim, Veronique Vitart, Stuart MacGregor, Virginie J.M. Verhoeven, Veluchamy A. Barathi, Jiemin Liao, Pirro G. Hysi, Joan E. Bailey-Wilson, Beate St. Pourcain, John P. Kemp, George McMahon, Nicholas J. Timpson, David M. Evans, Grant W. Montgomery, Aniket Mishra, Ya Xing Wang, Jie Jin Wang, Elena Rochtchina, Ozren Polasek, Alan F. Wright, Najaf Amin, Elisabeth M. van Leeuwen, James F. Wilson, Craig E. Pennell, Cornelia M. van Duijn, Paulus T.V.M. de Jong, Johannes R. Vingerling, Xin Zhou, Peng Chen, Ruoying Li, Wan-Ting Tay, Yingfeng Zheng, Merwyn Chew, Consortium for Refractive Error and Myopia, 1958 British Birth Cohort, Jugnoo S. Rahi, Pirro G. Hysi, Aichi cohort, Nagahisa Yoshimura, Kenji Yamashiro, Masahiro Miyake, ALIENOR, Cécile Delcourt, Cecilia Maubaret, ALSPAC, Cathy Williams, Jeremy A. Guggenheim, Kate Northstone, Susan M. Ring, George Davey-Smith, ANZRAG, Jamie E. Craig, Kathryn P. Burdon, Rhys D. Fogarty, AREDS1a, Sudha K. Iyengar, Robert P. Igo, Emily Chew, Sarayut Janmahasathian, AREDS1b, AREDS1c, Dwight Stambolian, Joan E. Bailey Wilson, BATS, Stuart MacGregor, Yi Lu, Beijing Eye Study, Jost B. Jonas, Liang Xu, Seang-Mei Saw, BMES, Paul N. Baird, Elena Rochtchina, Paul Mitchell, Jie Jin Wang, CIEMS, Vinay Nangia, CROATIA-Korčula, Caroline Hayward, Alan F. Wright, Veronique Vitart, CROATIA-Split, Ozren Polasek, Harry Campbell, CROATIA-Vis, Igor Rudan, Zoran Vatavuk, DCCT, Andrew D. Paterson, S. Mohsen Hosseini, FECD Fuchs Dystrophy GWAS, Jeremy R. Fondran, Myopia Study, Terri L. Young, Sheng Feng, Erasmus Rucphen Family Study, Virginie J.M. Verhoeven, Caroline C. 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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.

X Demographics

X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 146 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 <1%
Switzerland 1 <1%
Australia 1 <1%
Unknown 143 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 23 16%
Student > Ph. D. Student 18 12%
Student > Bachelor 17 12%
Professor 12 8%
Student > Master 11 8%
Other 32 22%
Unknown 33 23%
Readers by discipline Count As %
Medicine and Dentistry 42 29%
Agricultural and Biological Sciences 20 14%
Biochemistry, Genetics and Molecular Biology 17 12%
Neuroscience 5 3%
Social Sciences 4 3%
Other 17 12%
Unknown 41 28%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 11. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 15 April 2020.
All research outputs
#3,138,306
of 25,373,627 outputs
Outputs from American Journal of Human Genetics
#1,639
of 5,878 outputs
Outputs of similar age
#26,024
of 210,071 outputs
Outputs of similar age from American Journal of Human Genetics
#24
of 49 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. Compared to these this one has done well and is in the 87th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 5,878 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 18.3. This one has gotten more attention than average, scoring higher than 71% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 210,071 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 87% of its contemporaries.
We're also able to compare this research output to 49 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 51% of its contemporaries.