May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
Fine Mapping of the Chromosome 14 POAG Region and Exclusion of COCH as a Candidate Gene
Author Affiliations & Notes
  • K. V. Ramchand
    Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts
  • W. Palin
    Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts
  • E. DelBono
    Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts
  • M. A. Hauser
    Center for Human Genetics,
    Duke Medical School, Durham, North Carolina
  • R. R. Allingham
    Department of Ophthalmology,
    Duke Medical School, Durham, North Carolina
  • M. Pericak-Vance
    Center for Human Genetics,
    Duke Medical School, Durham, North Carolina
  • J. L. Haines
    Center for Human Genetics Research, Vanderbilt School of Medicine, Nashville, Tennessee
  • J. L. Wiggs
    Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts
  • Footnotes
    Commercial Relationships K.V. Ramchand, None; W. Palin, None; E. DelBono, None; M.A. Hauser, None; R.R. Allingham, None; M. Pericak-Vance, None; J.L. Haines, None; J.L. Wiggs, None.
  • Footnotes
    Support NIH Grants EY015872, P30EY014104
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 5604. doi:
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    • Get Citation

      K. V. Ramchand, W. Palin, E. DelBono, M. A. Hauser, R. R. Allingham, M. Pericak-Vance, J. L. Haines, J. L. Wiggs; Fine Mapping of the Chromosome 14 POAG Region and Exclusion of COCH as a Candidate Gene. Invest. Ophthalmol. Vis. Sci. 2007;48(13):5604.

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Abstract

Purpose:: We have previously completed a whole genome screen and follow-up studies that have identified a locus for POAG susceptibility on chromosome 14q11-12. The purpose of this study is to evaluate single nucleotide polymorphisms (SNPs) located throughout this region for association with POAG and to evaluate the COCH gene, located within this region, as a candidate gene for POAG.

Methods:: 326 POAG patients (65% Caucasian, 35% African- American) and 113 controls (70% Caucasian, 30 % African-American) were used for this study. 53 SNPs were evaluated using the quantitative PCR approach (TaqMan assay). The SNPs were checked for genotyping errors and were evaluated for association with POAG by calculating chi square distribution for genotype frequency and allele frequency.

Results:: 9 SNPs showed nominal evidence for association (p<0.05). Of these the highest association was found for rs4261445 in the Caucasian patients (p=.0065), and rs928037 in the African-American patients (p=.0063). Neither of these SNPs is located near COCH. Four of the chosen SNPs, rs753216, rs989911, rs766146, and rs2151782 flank the COCH gene and have p values greater than 0.11 for African-American patients and 0.23 for Caucasian patients.

Conclusions:: These results provide additional evidence for a POAG locus on chromosome 14q11-q12. However, SNPs within and flanking the COCH gene do not show significant association with POAG in this population. Candidate genes in the vicinity of rs928037 and rs4261445, are currently under investigation.

Keywords: gene mapping • genetics • ganglion cells 
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