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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)
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.
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.
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.
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.
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