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

Publication ,  Journal Article
Simpson, CL; Wojciechowski, R; Oexle, K; Murgia, F; Portas, L; Li, X; Verhoeven, VJM; Vitart, V; Schache, M; Hosseini, SM; Hysi, PG; Cotch, MF ...
Published in: PLoS One
2014

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.

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Published In

PLoS One

DOI

EISSN

1932-6203

Publication Date

2014

Volume

9

Issue

9

Start / End Page

e107110

Location

United States

Related Subject Headings

  • White People
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Myopia
  • Middle Aged
  • Male
  • Linkage Disequilibrium
  • Hyperopia
  • Humans
  • Genetic Predisposition to Disease
 

Citation

APA
Chicago
ICMJE
MLA
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Simpson, C. L., Wojciechowski, R., Oexle, K., Murgia, F., Portas, L., Li, X., … Stambolian, D. (2014). Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. PLoS One, 9(9), e107110. https://doi.org/10.1371/journal.pone.0107110
Simpson, Claire L., Robert Wojciechowski, Konrad Oexle, Federico Murgia, Laura Portas, Xiaohui Li, Virginie J. M. Verhoeven, et al. “Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.PLoS One 9, no. 9 (2014): e107110. https://doi.org/10.1371/journal.pone.0107110.
Simpson CL, Wojciechowski R, Oexle K, Murgia F, Portas L, Li X, et al. Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. PLoS One. 2014;9(9):e107110.
Simpson, Claire L., et al. “Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.PLoS One, vol. 9, no. 9, 2014, p. e107110. Pubmed, doi:10.1371/journal.pone.0107110.
Simpson CL, Wojciechowski R, Oexle K, Murgia F, Portas L, Li X, Verhoeven VJM, Vitart V, Schache M, Hosseini SM, Hysi PG, Raffel LJ, Cotch MF, Chew E, Klein BEK, Klein R, Wong TY, van Duijn CM, Mitchell P, Saw SM, Fossarello M, Wang JJ, DCCT/EDIC Research Group, Polašek O, Campbell H, Rudan I, Oostra BA, Uitterlinden AG, Hofman A, Rivadeneira F, Amin N, Karssen LC, Vingerling JR, Döring A, Bettecken T, Bencic G, Gieger C, Wichmann H-E, Wilson JF, Venturini C, Fleck B, Cumberland PM, Rahi JS, Hammond CJ, Hayward C, Wright AF, Paterson AD, Baird PN, Klaver CCW, Rotter JI, Pirastu M, Meitinger T, Bailey-Wilson JE, Stambolian D. Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. PLoS One. 2014;9(9):e107110.

Published In

PLoS One

DOI

EISSN

1932-6203

Publication Date

2014

Volume

9

Issue

9

Start / End Page

e107110

Location

United States

Related Subject Headings

  • White People
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Myopia
  • Middle Aged
  • Male
  • Linkage Disequilibrium
  • Hyperopia
  • Humans
  • Genetic Predisposition to Disease