April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Variants In Cav1/2 Are Associated With Poag Risk In African Americans
Author Affiliations & Notes
  • R R. Allingham
    Ophthalmology, Duke University Eye Center, Durham, North Carolina
  • Yutao Liu
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina
  • Jason Gibson
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina
  • Xuejun Qin
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina
  • Joshua Wheeler
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina
    University of Ghana, Acra, Ghana
  • Stephen Akafo
    University of Ghana, Acra, Ghana
  • Julia E. Richards
    Ophthal & Visual Sciences, Univ of Michigan-Kellogg Eye Ctr, Ann Arbor, Michigan
  • Chris Girkin
    Ophthalmology, University of Alabama Birmingham, Birmingham, Alabama
  • POAG African American Study Group
    Ophthalmology, Duke University Eye Center, Durham, North Carolina
  • Michael A. Hauser
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina
  • Footnotes
    Commercial Relationships  R. R. Allingham, None; Yutao Liu, None; Jason Gibson, None; Xuejun Qin, None; Joshua Wheeler, None; Stephen Akafo, None; Julia E. Richards, None; Chris Girkin, None; Michael A. Hauser, None
  • Footnotes
    Support  NIH Grants EY015443 (RRA), EY013315 (MAH), EY019126 (MAH), EY015872 (JLW)
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 2402. doi:
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      R R. Allingham, Yutao Liu, Jason Gibson, Xuejun Qin, Joshua Wheeler, Stephen Akafo, Julia E. Richards, Chris Girkin, POAG African American Study Group, Michael A. Hauser; Variants In Cav1/2 Are Associated With Poag Risk In African Americans. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2402.

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

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Abstract

Purpose: : POAG is a genetically complex heterogeneous disease. Recently, In a genome-wide association study, Thorleifsson et al described an association between a variant, rs4236601, near caveolin 1 and 2 (CAV1/2) and POAG in Caucasian and Asian datasets. Herein we report the results of an analysis of this variant in an African American, Ghanaian and Caucasian dataset.

Methods: : POAG was defined as the presence of glaucomatous optic nerve damage with associated visual field loss. Controls had IOP < 22 mmHg and no evidence of glaucomatous optic neuropathy and normal visual fields. Thirteen single nucleotide polymorphisms were genotyped with the Taqman allelic discrimination assay in three independent POAG case/control datasets: a Duke Caucasian cohort of 492 cases and 440 controls; a combined Duke and consortium African American cohort of 950 cases and 931 controls; and a Ghanaian cohort of 479 cases and 590 controls. Genotype associations with disease were evaluated using a logistic regression model corrected for age and gender.

Results: : SNP rs4236601 was not significantly associated with POAG risk in the Caucasian dataset (p=0.098), or the Ghanaian dataset (p=0.057), perhaps due to insufficient statistical power. However, this variant was significant in African Americans [p=0.038; OR 1.15 (95% CI 1.008-1.315)]. To follow up this replication, we subsequently genotyped a full haplotype tagging set of 13 SNPs in the African American dataset. Two additional SNPs were marginally significant: rs8940 (p=0.042) and rs10227696 (p=0.050).

Conclusions: : Rs4236601, a variant near CAV1/2, has previously been associated with risk of POAG in Caucasian and Asian populations. We have now demonstrated that this variant is also associated with POAG in African Americans, suggesting an expanded role of this locus in the etiology of POAG in the US.The POAG African American Study Group includes Janey Wiggs, Douglas Gaasterland, Paul Lichter, Leon Herndon, Pratap Challa, Robert Ritch, and Donald Budenz

Keywords: genetics 
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