Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
22969067
TITLE
Genetic variants near PDGFRA are associated with corneal curvature in Australians.
ABSTRACT
PURPOSE NlmCategory: OBJECTIVE
Irregularity in the corneal curvature (CC) is highly associated with various eye disorders such as keratoconus and myopia. The sample had limited power to find genomewide significant (5 Ã? 10(-8)) hits but good power for replication. Thus, an attempt was made to test whether alleles in the FRAP1 and PDGFRA genes, recently found to be associated with CC in Asian populations, also influence CC in Australians of North European ancestry. Results of initial genomewide association studies (GWAS) for CC in Australians were also reported.
METHODS NlmCategory: METHODS
Two population-based cohorts of 1788 Australian twins and their families, as well as 1013 individuals from a birth cohort from Western Australia, were genotyped using genomewide arrays. Following separate individual analysis and quality control, the results from each cohort underwent meta-analysis.
RESULTS NlmCategory: RESULTS
Meta-analysis revealed significant replication of association between rs2114039 and corneal curvature (P = 0.0045). The SNP rs2114039 near PDGFRA has been previously implicated in Asians. No SNP at the FRAP1 locus was found to be associated in our Australian samples. No SNP surpassed the genomewide significance threshold of 5 Ã? 10(-8). The SNP with strongest association was rs2444240 (P = 3.658 Ã? 10(-7)), which is 31 kb upstream to the TRIM29 gene.
CONCLUSIONS NlmCategory: CONCLUSIONS
A significant role of the PDGFRA gene in determining corneal curvature in the Australian population was confirmed in this study, also highlighting the putative association of the TRIM29 locus with CC.
DATE PUBLISHED
2012 Oct
HISTORY
PUBSTATUS PUBSTATUSDATE
entrez 2012/09/13 06:00
pubmed 2012/09/13 06:00
medline 2012/12/27 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Mishra A Mishra Aniket A Queensland Institute of Medical Research, Brisbane, Australia. aniket.mishra@qimr.edu.au
Yazar S Yazar Seyhan S
Hewitt AW Hewitt Alex W AW
Mountain JA Mountain Jenny A JA
Ang W Ang Wei W
Pennell CE Pennell Craig E CE
Martin NG Martin Nicholas G NG
Montgomery GW Montgomery Grant W GW
Hammond CJ Hammond Christopher J CJ
Young TL Young Terri L TL
Macgregor S Macgregor Stuart S
Mackey DA Mackey David A DA
INVESTIGATORS
JOURNAL
VOLUME: 53
ISSUE: 11
TITLE: Investigative ophthalmology & visual science
ISOABBREVIATION: Invest. Ophthalmol. Vis. Sci.
YEAR: 2012
MONTH: Oct
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN:
ISSNTYPE:
MEDLINE JOURNAL
MEDLINETA: Invest Ophthalmol Vis Sci
COUNTRY: United States
ISSNLINKING: 0146-0404
NLMUNIQUEID: 7703701
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Meta-Analysis
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Twin Study
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
1R01EY018246 NEI NIH HHS United States
R01 EY014685 NEI NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Cornea physiology
Female physiology
Genetic Variation genetics
Genome-Wide Association Study genetics
Genotype genetics
Humans genetics
Infant, Newborn genetics
Male genetics
Phenotype genetics
Polymorphism, Single Nucleotide genetics
Pregnancy genetics
Receptor, Platelet-Derived Growth Factor alpha genetics
Refraction, Ocular genetics
Refractive Errors genetics
Western Australia genetics
Young Adult genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
EC 2.7.10.1 Receptor, Platelet-Derived Growth Factor alpha
OTHER ID's
OTHERID SOURCE
PMC3471606 NLM
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