May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Fine Mapping of GLC1K Primary Open Angle Glaucoma Region
Author Affiliations & Notes
  • A. S. Hoguet
    Ophthalmology, Harvard Medical School, Boston, Massachusetts
  • E. DelBono
    Ophthalmology, Harvard Medical School, Boston, Massachusetts
  • R. R. Allingham
    Ophthalmology,
    Duke Medical School, Durham, North Carolina
  • M. A. Hauser
    Center for Human Genetics,
    Duke Medical School, Durham, North Carolina
  • M. Pericak-Vance
    Miami Institute for Human Genomics, University of Miami Leonard M. Miller School of Medicine, Miami, Florida
  • J. L. Haines
    Center for Human Genetics Research, Vanderbilt School of Medicine, Nashville, Tennessee
  • J. L. Wiggs
    Ophthalmology, Harvard Medical School, Boston, Massachusetts
  • Footnotes
    Commercial Relationships  A.S. Hoguet, None; E. DelBono, None; R.R. Allingham, None; M.A. Hauser, None; M. Pericak-Vance, None; J.L. Haines, None; J.L. Wiggs, None.
  • Footnotes
    Support  NIH grants EY009847, EY015872, P30EY014104, Research to Prevent Blindness Lew Wasserman award (JLW), HHMI (ASH)
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 1724. doi:
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      A. S. Hoguet, E. DelBono, R. R. Allingham, M. A. Hauser, M. Pericak-Vance, J. L. Haines, J. L. Wiggs; Fine Mapping of GLC1K Primary Open Angle Glaucoma Region. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1724.

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

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Abstract

Purpose: : We previously identified a locus on chromosome 20p12 associated with juvenile-onset primary open angle glaucoma (JOAG), designated GLC1K. Further genome studies using 5,067 SNPs also demonstrated suggestive linkage to this region in a set of 124 families affected by adult-onset primary open angle glaucoma (POAG; LOD>2.0). The purpose of this study is to perform haplotype analyses and association analyses to refine this region and identify candidate genes for POAG and JOAG.

Methods: : SNP genotype data from a SNP-based genome scan (Illumina) using 124 families with POAG was analyzed to refine the linkage region on chromosome 20. 295 POAG patients and 122 controls were used for case/control association analysis. 40 SNPs distributed within the above refined region were evaluated for association in the case/control cohort using a quantitative PCR approach (TaqMan assay) by calculating a chi square distribution for genotype and allele frequency.

Results: : SNP haplotype analysis showed that 66% (n=82) of families had a consistent haplotype among affected family members. Of these, 7 families had 4 or more affected members, and of these 4 families shared the same haplotype between SNPs rs1040756 and rs466243 and 3 shared the same haplotype between SNPs rs775133 and rs2077147, identifying a region of 4.2Mb that is likely to contain the causative gene. Within this region, association studies revealed 2 SNPs, rs424792 (chr20:15,031,889bp) and rs3790316 (chr20:17,577,439bp) that showed significant association with POAG for genotype (p=0.002 and 0.4X10-4 respectively) and allele frequency (p=0.003 and 0.005 respectively).

Keywords: genetics • gene mapping • outflow: trabecular meshwork 
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