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Title:

Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.

Document type:
Journal Article; Meta-Analysis; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Author(s):
Stambolian, Dwight; Wojciechowski, Robert; Oexle, Konrad; Pirastu, Mario; Li, Xiaohui; Raffel, Leslie J; Cotch, Mary Frances; Chew, Emily Y; Klein, Barbara; Klein, Ronald; Wong, Tien Y; Simpson, Claire L; Klaver, Caroline C W; van Duijn, Cornelia M; Verhoeven, Virginie J M; Baird, Paul N; Vitart, Veronique; Paterson, Andrew D; Mitchell, Paul; Saw, Seang Mei; Fossarello, Maurizio; Kazmierkiewicz, Krista; Murgia, Federico; Portas, Laura; Schache, Maria; Richardson, Andrea; Xie, Jing; Wang, Jie Jin...     »
Abstract:
Visual refractive errors (REs) are complex genetic traits with a largely unknown etiology. To date, genome-wide association studies (GWASs) of moderate size have identified several novel risk markers for RE, measured here as mean spherical equivalent (MSE). We performed a GWAS using a total of 7280 samples from five cohorts: the Age-Related Eye Disease Study (AREDS); the KORA study ('Cooperative Health Research in the Region of Augsburg'); the Framingham Eye Study (FES); the Ogliastra Genetic...     »
Journal title abbreviation:
Hum Mol Genet
Year:
2013
Journal volume:
22
Journal issue:
13
Pages contribution:
2754-64
Language:
eng
Fulltext / DOI:
doi:10.1093/hmg/ddt116
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/23474815
Print-ISSN:
0964-6906
TUM Institution:
Institut für Humangenetik
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