May 2006
Volume 47, Issue 13
ARVO Annual Meeting Abstract  |   May 2006
A High Density Linkage Screen for POAG: Evidence for Different Loci by Race
Author Affiliations & Notes
  • R.R. Allingham
    Duke University Eye Center, Durham, NC
  • J.L. Wiggs
    Harvard Medical School, Boston, MA
  • F.L. Graham
    Duke Center for Human Genetics, Durham, NC
  • K.R. Larocque–Abramson
    Duke Center for Human Genetics, Durham, NC
  • C. Santiago–Turla
    Duke University Eye Center, Durham, NC
  • A. Ventura
    Duke University Eye Center, Durham, NC
  • J.L. Haines
    Center for Human Genetics Research, Nashville, TN
  • M.A. Pericak–Vance
    Duke Center for Human Genetics, Durham, NC
  • M.A. Hauser
    Duke Center for Human Genetics, Durham, NC
  • Footnotes
    Commercial Relationships  R.R. Allingham, None; J.L. Wiggs, None; F.L. Graham, None; K.R. Larocque–Abramson, None; C. Santiago–Turla, None; A. Ventura, None; J.L. Haines, None; M.A. Pericak–Vance, None; M.A. Hauser, None.
  • Footnotes
    Support  EY015543 (RRA), EY015586 HIGHWIRE EXLINK_ID="47:5:3258:1" VALUE="EY015586" TYPEGUESS="GEN" /HIGHWIRE (JLW), EY013315 HIGHWIRE EXLINK_ID="47:5:3258:2" VALUE="EY013315" TYPEGUESS="GEN" /HIGHWIRE (MAH), The Milliken Glaucoma Research Fund
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 3258. doi:
  • Views
  • Share
  • Tools
    • Alerts
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      R.R. Allingham, J.L. Wiggs, F.L. Graham, K.R. Larocque–Abramson, C. Santiago–Turla, A. Ventura, J.L. Haines, M.A. Pericak–Vance, M.A. Hauser; A High Density Linkage Screen for POAG: Evidence for Different Loci by Race . Invest. Ophthalmol. Vis. Sci. 2006;47(13):3258.

      Download citation file:

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

  • Supplements

Purpose: : Primary open–angle glaucoma (POAG) is a common complex inherited disorder. Here we report a major SNP–based genome–wide screen on a large POAG family dataset.

Methods: : A genome–wide screen was performed on 142 multiplex POAG families each containing 2 or more affected family members. The marker panel consisted of 5067 single nucleotide polymorphisms (SNPs) (Linkage Panel IV) and was performed utilizing the Illumina Bead Station platform. Two–point and multipoint heterogeneity lod scores were calculated using Allegro. For multipoint analyses a single SNP was selected from each bin of SNPs in linkage disequilibrium (r2 > 0.16). Genotype data were analyzed in toto and after stratification by Caucasian and African–American race.

Results: : The multiplex POAG family dataset contained 142 families (including 87 Caucasian, 37 African–American families). The genome–wide screen produced approximately 2.7 million genotypes for analysis. The two–point analyses was performed on the total dataset. For multipoint analyses the Caucasian and African–American family subsets were also analyzed. Peak two–point MLOD scores for chromosomes 3, 6, 14, and 15 were 4.4, 2.6, 4.4, and 3.5, respectively. Peak multipoint (parametric or non–parametric) lod scores for chromosomes 3, 6, 14, and 15 were 2.6, 1.7, 2.1, and 2.6, respectively. Additional multipoint lod scores > 2.0 were found on chromosomes 12 (2.2) and 17 (2.0). Multipoint lod scores for the loci on chromosomes 3, 14, and 15 were primarily obtained from the African–American subset. The lod score for the locus on chromosome 12 was derived from the Caucasian subset. Contributions from both racial subsets contributed to the lod scores on chromosomes 6 and 17.

Conclusions: : We have performed the most definitive genome–wide linkage screen for POAG described to date, using over 5000 markers in one of the largest reported multiplex family datasets. For the first time we report known and novel chromosomal loci for POAG that appear to be derived primarily from either Caucasian or African–American family subsets. These findings suggest that different genetic loci may in part explain variations in the prevalence and phenotype of POAG among races described in population–based studies.

Keywords: genetics • linkage analysis 

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.