Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.
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 re...
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Public Library of Science (PLoS)
2014
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oai:doaj.org-article:2203e6a3cdb8432caf8445d80c0c2ecc2021-11-25T06:00:07ZGenome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.1932-620310.1371/journal.pone.0107110https://doaj.org/article/2203e6a3cdb8432caf8445d80c0c2ecc2014-01-01T00:00:00Zhttps://doi.org/10.1371/journal.pone.0107110https://doaj.org/toc/1932-6203Refractive 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.Claire L SimpsonRobert WojciechowskiKonrad OexleFederico MurgiaLaura PortasXiaohui LiVirginie J M VerhoevenVeronique VitartMaria SchacheS Mohsen HosseiniPirro G HysiLeslie J RaffelMary Frances CotchEmily ChewBarbara E K KleinRonald KleinTien Yin WongCornelia M van DuijnPaul MitchellSeang Mei SawMaurizio FossarelloJie Jin WangDCCT/EDIC Research GroupOzren PolašekHarry CampbellIgor RudanBen A OostraAndré G UitterlindenAlbert HofmanFernando RivadeneiraNajaf AminLennart C KarssenJohannes R VingerlingAngela DöringThomas BetteckenGoran BencicChristian GiegerH-Erich WichmannJames F WilsonCristina VenturiniBrian FleckPhillippa M CumberlandJugnoo S RahiChris J HammondCaroline HaywardAlan F WrightAndrew D PatersonPaul N BairdCaroline C W KlaverJerome I RotterMario PirastuThomas MeitingerJoan E Bailey-WilsonDwight StambolianPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 9, p e107110 (2014) |
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| topic |
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Medicine R Science Q Claire L Simpson Robert Wojciechowski Konrad Oexle Federico Murgia Laura Portas Xiaohui Li Virginie J M Verhoeven Veronique Vitart Maria Schache S Mohsen Hosseini Pirro G Hysi Leslie J Raffel Mary Frances Cotch Emily Chew Barbara E K Klein Ronald Klein Tien Yin Wong Cornelia M van Duijn Paul Mitchell Seang Mei Saw Maurizio Fossarello Jie Jin Wang DCCT/EDIC Research Group Ozren Polašek Harry Campbell Igor Rudan Ben A Oostra André G Uitterlinden Albert Hofman Fernando Rivadeneira Najaf Amin Lennart C Karssen Johannes R Vingerling Angela Döring Thomas Bettecken Goran Bencic Christian Gieger H-Erich Wichmann James F Wilson Cristina Venturini Brian Fleck Phillippa M Cumberland Jugnoo S Rahi Chris J Hammond Caroline Hayward Alan F Wright Andrew D Paterson Paul N Baird Caroline C W Klaver Jerome I Rotter Mario Pirastu Thomas Meitinger Joan E Bailey-Wilson Dwight Stambolian Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. |
| description |
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. |
| format |
article |
| author |
Claire L Simpson Robert Wojciechowski Konrad Oexle Federico Murgia Laura Portas Xiaohui Li Virginie J M Verhoeven Veronique Vitart Maria Schache S Mohsen Hosseini Pirro G Hysi Leslie J Raffel Mary Frances Cotch Emily Chew Barbara E K Klein Ronald Klein Tien Yin Wong Cornelia M van Duijn Paul Mitchell Seang Mei Saw Maurizio Fossarello Jie Jin Wang DCCT/EDIC Research Group Ozren Polašek Harry Campbell Igor Rudan Ben A Oostra André G Uitterlinden Albert Hofman Fernando Rivadeneira Najaf Amin Lennart C Karssen Johannes R Vingerling Angela Döring Thomas Bettecken Goran Bencic Christian Gieger H-Erich Wichmann James F Wilson Cristina Venturini Brian Fleck Phillippa M Cumberland Jugnoo S Rahi Chris J Hammond Caroline Hayward Alan F Wright Andrew D Paterson Paul N Baird Caroline C W Klaver Jerome I Rotter Mario Pirastu Thomas Meitinger Joan E Bailey-Wilson Dwight Stambolian |
| author_facet |
Claire L Simpson Robert Wojciechowski Konrad Oexle Federico Murgia Laura Portas Xiaohui Li Virginie J M Verhoeven Veronique Vitart Maria Schache S Mohsen Hosseini Pirro G Hysi Leslie J Raffel Mary Frances Cotch Emily Chew Barbara E K Klein Ronald Klein Tien Yin Wong Cornelia M van Duijn Paul Mitchell Seang Mei Saw Maurizio Fossarello Jie Jin Wang DCCT/EDIC Research Group Ozren Polašek Harry Campbell Igor Rudan Ben A Oostra André G Uitterlinden Albert Hofman Fernando Rivadeneira Najaf Amin Lennart C Karssen Johannes R Vingerling Angela Döring Thomas Bettecken Goran Bencic Christian Gieger H-Erich Wichmann James F Wilson Cristina Venturini Brian Fleck Phillippa M Cumberland Jugnoo S Rahi Chris J Hammond Caroline Hayward Alan F Wright Andrew D Paterson Paul N Baird Caroline C W Klaver Jerome I Rotter Mario Pirastu Thomas Meitinger Joan E Bailey-Wilson Dwight Stambolian |
| author_sort |
Claire L Simpson |
| title |
Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. |
| title_short |
Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. |
| title_full |
Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. |
| title_fullStr |
Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. |
| title_full_unstemmed |
Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. |
| title_sort |
genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2014 |
| url |
https://doaj.org/article/2203e6a3cdb8432caf8445d80c0c2ecc |
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