April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Allelotyping In Primary Open-angle Glaucoma Using Snp Microarrays And DNA Pooling
Author Affiliations & Notes
  • Colin E. Willoughby
    Centre for Vision and Vascular Science, Queen's Univerity Belfast, Belfast, United Kingdom
    Ophthalmology, Royal Victoria Hospital, Belfast, United Kingdom
  • Judith Lechner
    Centre for Vision and Vascular Science, Queen's Univerity Belfast, Belfast, United Kingdom
  • Jia Wei
    Centre for Vision and Vascular Science, Queen's Univerity Belfast, Belfast, United Kingdom
  • Edward W. Dervan
    Institute of Ophthalmology, Mater Misericordiae University Hospital, Dublin, Ireland
  • Durga P. Dash
    Centre for Vision and Vascular Science, Queen's Univerity Belfast, Belfast, United Kingdom
  • Joanne Logan
    Ophthalmology, Royal Victoria Hospital, Belfast, United Kingdom
  • Simon J. Rankin
    Ophthalmology, Royal Victoria Hospital, Belfast, United Kingdom
  • Colm J. O'Brien
    Institute of Ophthalmology, Mater Misericordiae University Hospital, Dublin, Ireland
  • Footnotes
    Commercial Relationships  Colin E. Willoughby, None; Judith Lechner, None; Jia Wei, None; Edward W. Dervan, None; Durga P. Dash, None; Joanne Logan, None; Simon J. Rankin, None; Colm J. O'Brien, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 2418. doi:
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      Colin E. Willoughby, Judith Lechner, Jia Wei, Edward W. Dervan, Durga P. Dash, Joanne Logan, Simon J. Rankin, Colm J. O'Brien; Allelotyping In Primary Open-angle Glaucoma Using Snp Microarrays And DNA Pooling. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2418.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract
 
Purpose:
 

Genome-wide association studies (GWAS) using SNP arrays are a fundamental approach to identify genes associated with complex genetic disorders like POAG. One way to address the cost, time and labour that are involved in large-scale genotyping is to carry out analyses not on individual DNA samples, but pools made up of DNA from many individuals: allelotyping or SNP Microarrays and DNA Pooling (SNP-MaP). This approach was applied to detect alleles associated with high and low tension glaucoma.

 
Methods:
 

Caucasian patients with high tension (HTG) and normal tension (NTG) POAG were recruited following careful phenotyping from the Departments of Ophthalmology in Belfast and Dublin. Extracted DNA was accurately quantified and pools were constructed using equimolar amounts of DNA from each patient or control. Pooled DNA was allelotyped on the Affymetrix SNP 6.0 Array. Pooled array data was analysed using GPFrontend and GPGraphics software tools and the GenePool algorithm to rank SNPs and assess SNP clustering.

 
Results:
 

Four DNA pools consisting of 98 HTG patients in two separate pools (55 Belfast and 43 Dublin cases), 90 NTG patients and 90 Caucasian population controls were analysed on the Affymetrix SNP 6.0 Array. A number of chromosomal loci harbouring clusters of high ranking SNPs in biologically plausible candidate genes have been identified which require replication in further pools and SNP genotyping of individual samples. In particular, initial analysis of SNPs in the mtDNA has identified four significant target regions in NTG and one in HTG cases not seen in controls.

 
Conclusions:
 

Preliminary data suggests that allelotyping using SNP-MaP is a cost effective strategy to identify genes associated with POAG. The role of the mitochondrial genome in POAG requires further exploration.

 
Keywords: genetics • intraocular pressure • mitochondria 
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