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Genetic variants near PDGFRA are associated with corneal curvature in Australians.

Publication ,  Journal Article
Mishra, A; Yazar, S; Hewitt, AW; Mountain, JA; Ang, W; Pennell, CE; Martin, NG; Montgomery, GW; Hammond, CJ; Young, TL; Macgregor, S; Mackey, DA
Published in: Invest Ophthalmol Vis Sci
October 11, 2012

PURPOSE: 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 × 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: 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: 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 × 10(-8). The SNP with strongest association was rs2444240 (P = 3.658 × 10(-7)), which is 31 kb upstream to the TRIM29 gene. 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.

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Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

October 11, 2012

Volume

53

Issue

11

Start / End Page

7131 / 7136

Location

United States

Related Subject Headings

  • Young Adult
  • Western Australia
  • Refractive Errors
  • Refraction, Ocular
  • Receptor, Platelet-Derived Growth Factor alpha
  • Pregnancy
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Ophthalmology & Optometry
  • Male
 

Citation

APA
Chicago
ICMJE
MLA
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Mishra, A., Yazar, S., Hewitt, A. W., Mountain, J. A., Ang, W., Pennell, C. E., … Mackey, D. A. (2012). Genetic variants near PDGFRA are associated with corneal curvature in Australians. Invest Ophthalmol Vis Sci, 53(11), 7131–7136. https://doi.org/10.1167/iovs.12-10489
Mishra, Aniket, Seyhan Yazar, Alex W. Hewitt, Jenny A. Mountain, Wei Ang, Craig E. Pennell, Nicholas G. Martin, et al. “Genetic variants near PDGFRA are associated with corneal curvature in Australians.Invest Ophthalmol Vis Sci 53, no. 11 (October 11, 2012): 7131–36. https://doi.org/10.1167/iovs.12-10489.
Mishra A, Yazar S, Hewitt AW, Mountain JA, Ang W, Pennell CE, et al. Genetic variants near PDGFRA are associated with corneal curvature in Australians. Invest Ophthalmol Vis Sci. 2012 Oct 11;53(11):7131–6.
Mishra, Aniket, et al. “Genetic variants near PDGFRA are associated with corneal curvature in Australians.Invest Ophthalmol Vis Sci, vol. 53, no. 11, Oct. 2012, pp. 7131–36. Pubmed, doi:10.1167/iovs.12-10489.
Mishra A, Yazar S, Hewitt AW, Mountain JA, Ang W, Pennell CE, Martin NG, Montgomery GW, Hammond CJ, Young TL, Macgregor S, Mackey DA. Genetic variants near PDGFRA are associated with corneal curvature in Australians. Invest Ophthalmol Vis Sci. 2012 Oct 11;53(11):7131–7136.

Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

October 11, 2012

Volume

53

Issue

11

Start / End Page

7131 / 7136

Location

United States

Related Subject Headings

  • Young Adult
  • Western Australia
  • Refractive Errors
  • Refraction, Ocular
  • Receptor, Platelet-Derived Growth Factor alpha
  • Pregnancy
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Ophthalmology & Optometry
  • Male