April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Association Study of American and British Normal-Tension Glaucoma Subjects with SRBD1 and ELOVL5 Gene Polymorphisms
Author Affiliations & Notes
  • Roshanak Sharafieh
    Molecular Ophthalmic Genetics Laboratory, University of Connecticut Health Center, Farmington, Connecticut
    Cardiac & Vascular Sciences, St George's, Univ of London, London, United Kingdom
  • Robert Ritch
    Einhorn Clinical Research Center, New York Eye and Ear Infirmary, New York, New York
  • Jeffrey M. Liebmann
    Einhorn Clinical Research Center, New York Eye and Ear Infirmary, New York, New York
  • Anne H. Child
    Cardiac & Vascular Sciences, St George's, Univ of London, London, United Kingdom
  • Mansoor Sarfarazi
    Molecular Ophthalmic Genetics Laboratory, University of Connecticut Health Center, Farmington, Connecticut
  • Footnotes
    Commercial Relationships  Roshanak Sharafieh, None; Robert Ritch, None; Jeffrey M. Liebmann, None; Anne H. Child, None; Mansoor Sarfarazi, None
  • Footnotes
    Support  Supported in part by the Leo and Mary Birenbaum Research Fund of the New York Glaucoma Research Institute, New York, NY
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 2415. doi:
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      Roshanak Sharafieh, Robert Ritch, Jeffrey M. Liebmann, Anne H. Child, Mansoor Sarfarazi; Association Study of American and British Normal-Tension Glaucoma Subjects with SRBD1 and ELOVL5 Gene Polymorphisms. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2415.

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

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Abstract

Purpose: : Recently, a genome-wide association study of Japanese normal-tension glaucoma (NTG) subjects identified significant genetic susceptibility with 2 common variants of rs3213787 (SRBD1) and rs735860 (ELOVL5). We aimed to test genetic contribution of these 2 variants in a group of American and British Caucasian NTG patients and normal control subjects.

Methods: : The study population included a total of 476 subjects (285 NTG and 191 controls). Genotyping was carried out by PCR-amplification and direct DNA sequencing of fragments containing the single nucleotide polymorphisms (SNPs) of interest. The genotypic data was tabulated for all subjects and statistical evaluation was carried out with the SNP-STAT program.

Results: : Genotypic and allelic comparisons for each of the 2 SNPs were conducted separately for the American and British groups. Since we observed no significant differences between the genotypic and allelic distributions of these SNPs for the two group of cases and controls, a combined analysis was also performed for the entire samples. For rs3213787 (SRBD1), no instances of the "GG" was observed in any of the 476 subjects genotyped. Observed allelic comparison of 189 NTG with 88 American controls (p=0.101) and 96 NTG with 103 British normal subjects (p=0.360) and their combined group (p=0.545) was not significant. Likewise, for rs735860 (ELOVL5), allelic comparison of 178 NTG with 91 American controls (p=0.115) and 83 NTG with 57 British normal subjects (p=0.321) and their combined group (p=0.067) was not significant. No haplotype analysis was possible since SRBD1 is located on 2p21 and ELOVL5 on 6p12.1.

Conclusions: : We were unable to confirm a recently reported genetic susceptibility in Japanese NTG patients with 2 SNPs in close proximity of SRBD1 and ELOVL5 genes. Although the Caucasian sample size used in our study (285 NTG) was comparable to the Japanese group (305 NTG), no statistical significance was observed in this Western population. Therefore, it is possible that these two SNPs may have a stronger association in the Japanese population than the Caucasian. Additional assessment in other populations will be required to further confirm the genetic contribution of these 2 SNPs with the NTG phenotype.

Keywords: genetics • intraocular pressure • candidate gene analysis 
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