Please use this identifier to cite or link to this item: http://hdl.handle.net/10397/6243
PIRA download icon_1.1View/Download Full Text
DC FieldValueLanguage
dc.contributorSchool of Optometry-
dc.creatorGuggenheim, JA-
dc.creatorMcMahon, G-
dc.creatorKemp, JP-
dc.creatorAkhtar, S-
dc.creatorPourcain, BS-
dc.creatorNorthstone, K-
dc.creatorRing, SM-
dc.creatorEvans, DM-
dc.creatorSmith, GD-
dc.creatorTimpson, NJ-
dc.creatorWilliams, C-
dc.date.accessioned2014-12-11T08:28:14Z-
dc.date.available2014-12-11T08:28:14Z-
dc.identifier.issn1090-0535-
dc.identifier.urihttp://hdl.handle.net/10397/6243-
dc.language.isoenen_US
dc.publisherMolecular visionen_US
dc.rights© 2013 Molecular Vision. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 3.0, or CC BY-NC-ND 3.0 (see http://creativecommons.org/licenses/by-nc-nd/3.0/ for license terms), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.en_US
dc.titleA genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor alpha gene as a quantitative trait locus for eye size in white Europeansen_US
dc.typeJournal/Magazine Articleen_US
dc.identifier.spage243-
dc.identifier.epage253-
dc.identifier.volume19-
dcterms.abstractPurpose: Corneal curvature is a key determinant of the refractive power of the eye. Variants in two genes, FKBP12-rapamycin complex-associated protein 1 (FRAP1) on chromosome 1p36.2 and platelet-derived growth factor receptor alpha (PDGFRA) on chromosome 4q12, have shown genome-wide significant association with normal variation in corneal curvature in a study of subjects of Asian origin. Variants at the PDGFRA locus have also shown genome-wide significant association with corneal astigmatism. Whether these variants influence other ocular parameters such as axial length has yet to be reported. We performed a genome-wide association study for corneal curvature in white European subjects from a population-based birth cohort, with the aim of replicating and extending the above findings.-
dcterms.abstractMethods: White European children participating in the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort were examined at age about 15.5 years (95% confidence interval=15.45 to 15.48 years). Radius of corneal curvature and axial eye length were measured with an IOLmaster. DNA samples were genotyped with Illumina HumanHap550 arrays and untyped variants imputed using MACH, with CEU individuals from HapMap release 22, Phase II NCBI B36, Single Nucleotide Polymorphism database 126 as the reference panel. Association between corneal curvature and single nucleotide polymorphism (SNP) genotype was tested, genome-wide, using mach2qtl, with sex as a covariate (n=2023; 46.6% male).-
dcterms.abstractResults: The variant exhibiting the strongest evidence for association with corneal curvature (rs6554163; p=2.8×10⁻⁶) was located in the same linkage disequilibrium block as the previously discovered PDGFRA variants. Meta-analysis of the current and prior findings enhanced the evidence for association (rs17084051, p=4.5×10⁻¹⁴). rs6554163 genotype predicted 1.0% of variation in corneal curvature. In addition, these PDGFRA variants were associated with axial eye length, predicting 0.6% of the normal trait variation (p=5.3×10⁻⁴). Each copy of the minor allele of variants at the locus also increased the risk of corneal astigmatism in this white European cohort (odds ratio [OR]=1.24, 95% confidence interval=1.07–1.45; p=0.006).-
dcterms.abstractConclusion: As in Asians, variants at the PDGFRA locus influence corneal curvature (and corneal astigmatism). However, rather than affecting corneal curvature in isolation, this locus influences the size of the eye while maintaining its scaling.-
dcterms.accessRightsopen accessen_US
dcterms.bibliographicCitationMolecular vision, 3 Jan. 2013, v. 19, p. 243-253-
dcterms.isPartOfMolecular vision-
dcterms.issued2013-01-03-
dc.identifier.isiWOS:000314911100001-
dc.identifier.scopus2-s2.0-84873565360-
dc.identifier.rosgroupidr65518-
dc.description.ros2012-2013 > Academic research: refereed > Publication in refereed journal-
dc.description.oaVersion of Recorden_US
dc.identifier.FolderNumberOA_IR/PIRAen_US
dc.description.pubStatusPublisheden_US
Appears in Collections:Journal/Magazine Article
Files in This Item:
File Description SizeFormat 
Guggenheim_a_genome_wide.pdf4.94 MBAdobe PDFView/Open
Open Access Information
Status open access
File Version Version of Record
Access
View full-text via PolyU eLinks SFX Query
Show simple item record

Page views

102
Last Week
0
Last month
Citations as of Mar 24, 2024

Downloads

292
Citations as of Mar 24, 2024

SCOPUSTM   
Citations

37
Last Week
0
Last month
0
Citations as of Mar 22, 2024

WEB OF SCIENCETM
Citations

37
Last Week
0
Last month
0
Citations as of Mar 28, 2024

Google ScholarTM

Check


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.