March 2012
Volume 53, Issue 14
Free
ARVO Annual Meeting Abstract  |   March 2012
POAG Genetic Risk Factors In The African American and West African Populations
Author Affiliations & Notes
  • R R. Allingham
    Ophthalmology, Duke University Eye Center, Durham, North Carolina
  • Yutao Liu
    Medicine, Duke University Medical Center, Durham, North Carolina
  • Jason Gibson
    Medicine, Duke University Medical Center, Durham, North Carolina
  • Joshua Wheeler
    Medicine, Duke University Medical Center, Durham, North Carolina
  • Xuejun Qin
    Medicine, Duke University Medical Center, Durham, North Carolina
  • Christopher A. Girkin
    Ophthalmology, Univ of Alabama at Birmingham, Birmingham, Alabama
  • Stephen K. Akafo
    Surgery, University of Ghana Medical School, Korle Bu, Ghana
  • Allison E. Ashley-Koch
    Medicine, Duke University Medical Center, Durham, North Carolina
  • POAG African American Study Group
    Ophthalmology, Duke University Eye Center, Durham, North Carolina
  • Michael A. Hauser
    Ophthalmology & Medicine, Duke Univ Medical Center, Durham, North Carolina
  • Footnotes
    Commercial Relationships  R. R. Allingham, None; Yutao Liu, None; Jason Gibson, None; Joshua Wheeler, None; Xuejun Qin, None; Christopher A. Girkin, None; Stephen K. Akafo, None; Allison E. Ashley-Koch, None; Michael A. Hauser, None
  • Footnotes
    Support  R01EY013315 (MAH), R01EY019126 (MAH), R01EY015543 (RRA), R03EY014939 (RRA), American Health Assistance Foundation (YL)
Investigative Ophthalmology & Visual Science March 2012, Vol.53, 4496. doi:https://doi.org/
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      R R. Allingham, Yutao Liu, Jason Gibson, Joshua Wheeler, Xuejun Qin, Christopher A. Girkin, Stephen K. Akafo, Allison E. Ashley-Koch, POAG African American Study Group, Michael A. Hauser; POAG Genetic Risk Factors In The African American and West African Populations. Invest. Ophthalmol. Vis. Sci. 2012;53(14):4496. doi: https://doi.org/.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose: : Multiple loci (CDKN2BAS, TMCO1, CAV1/CAV2, and SIX1/SIX6) have been associated with primary open angle glaucoma (POAG) in Caucasian populations. This study examines association of these loci in populations of African ancestry, populations at particularly high risk for POAG.

Methods: : Fifty tagging SNPs were selected to cover the reported four genomic regions in the African population (YRI). TaqMan-based allelic discrimination assays were used to genotype DNA samples from two populations: African American (1141 cases and 835 controls) and Ghanaian (490 cases and 600 controls). Genetic associations with POAG were evaluated using logistic regression with an additive model, adjusted for age and gender.

Results: : In African American samples, no association was identified with tagging SNPs in either TMCO1 or SIX1/SIX6 regions. SNP rs4236601 in the CAV1/CAV2 region showed marginal association with POAG (p value=0.04). Three SNPs (rs10120688, rs16905597, and rs10965245) in the CDKN2BAS region showed marginal association with POAG (p value = 0.02, 0.03, 0.02 respectively). In Ghanaian samples, only three SNPs (rs3807986, rs3815412, and rs8713) in the CDKN2BAS region showed marginal association with POAG (p value = 0.01, 0.03, 0.04 respectively). However, none of these identified associations remained significant after Bonferroni correction for multiple testing. Our African American dataset is well powered to detect association with TMCO1 (97%), CDKN2BAS (98%), and CAV1/CAV2 (79%), while power to detect SIX1/SIX6 is low (30%). Power in the Ghanaian dataset is slightly lower because of a reduced sample size.

Conclusions: : Our data indicates that the POAG genetic susceptibility alleles found in Caucasians play a greatly reduced or negligible role in populations of African ancestry, underscoring the critical need to pursue large-scale genome wide association studies in this understudied, yet disproportionately affected population. The POAG African American Study Group includes Janey Wiggs, Julia Richards, Douglas Gaasterland, Paul Lichter, Leon Herndon, Pratap Challa, Robert Ritch, and Donald Budenz.

Keywords: candidate gene analysis • genetics • gene screening 
×
×

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.

×