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Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.


ABSTRACT: Refractive error (RE) is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness) and hyperopia (farsightedness), which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia from 9 studies of European-derived populations: AREDS, KORA, FES, OGP-Talana, MESA, RSI, RSII, RSIII and ERF. One genome-wide significant region was observed for myopia, corresponding to a previously identified myopia locus on 8q12 (p?=?1.25×10(-8)), which has been reported by Kiefer et al. as significantly associated with myopia age at onset and Verhoeven et al. as significantly associated to mean spherical-equivalent (MSE) refractive error. We observed two genome-wide significant associations with hyperopia. These regions overlapped with loci on 15q14 (minimum p value?=?9.11×10(-11)) and 8q12 (minimum p value 1.82×10(-11)) previously reported for MSE and myopia age at onset. We also used an intermarker linkage- disequilibrium-based method for calculating the effective number of tests in targeted regional replication analyses. We analyzed myopia (which represents the closest phenotype in our data to the one used by Kiefer et al.) and showed replication of 10 additional loci associated with myopia previously reported by Kiefer et al. This is the first replication of these loci using myopia as the trait under analysis. "Replication-level" association was also seen between hyperopia and 12 of Kiefer et al.'s published loci. For the loci that show evidence of association to both myopia and hyperopia, the estimated effect of the risk alleles were in opposite directions for the two traits. This suggests that these loci are important contributors to variation of refractive error across the distribution.

SUBMITTER: Simpson CL 

PROVIDER: S-EPMC4169415 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.

Simpson Claire L CL   Wojciechowski Robert R   Oexle Konrad K   Murgia Federico F   Portas Laura L   Li Xiaohui X   Verhoeven Virginie J M VJ   Vitart Veronique V   Schache Maria M   Hosseini S Mohsen SM   Hysi Pirro G PG   Raffel Leslie J LJ   Cotch Mary Frances MF   Chew Emily E   Klein Barbara E K BE   Klein Ronald R   Wong Tien Yin TY   van Duijn Cornelia M CM   Mitchell Paul P   Saw Seang Mei SM   Fossarello Maurizio M   Wang Jie Jin JJ   Polašek Ozren O   Campbell Harry H   Rudan Igor I   Oostra Ben A BA   Uitterlinden André G AG   Hofman Albert A   Rivadeneira Fernando F   Amin Najaf N   Karssen Lennart C LC   Vingerling Johannes R JR   Döring Angela A   Bettecken Thomas T   Bencic Goran G   Gieger Christian C   Wichmann H-Erich HE   Wilson James F JF   Venturini Cristina C   Fleck Brian B   Cumberland Phillippa M PM   Rahi Jugnoo S JS   Hammond Chris J CJ   Hayward Caroline C   Wright Alan F AF   Paterson Andrew D AD   Baird Paul N PN   Klaver Caroline C W CC   Rotter Jerome I JI   Pirastu Mario M   Meitinger Thomas T   Bailey-Wilson Joan E JE   Stambolian Dwight D  

PloS one 20140918 9


Refractive error (RE) is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness) and hyperopia (farsightedness), which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia fro  ...[more]

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