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J. H. Fingert, B. R. Roos, H. T. Daggett, W. L. M. Alward, Y. H. Kwon, V. C. Sheffield, E. M. Stone, T. E. Scheetz; Association Study of Pigment Dispersion Syndrome. Invest. Ophthalmol. Vis. Sci. 2009;50(13):880.
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© ARVO (1962-2015); The Authors (2016-present)
To identify genetic risk factors for pigment dispersion syndrome (PDS).
DNA samples from 98 subjects with PDS and 200 ethnically matched controls were genotyped with 262,000 SNPs distributed across the genome. Genotypes from individual SNPs were analyzed using a Chi squared test. P-values were adjusted for multiple measures using the Bonferroni correction. SNP data was also analyzed to search for clusters of 4 or more SNPs with p-values ≤ 0.001.
Following Bonferroni correction for multiple measures, 320 individual SNPs had p-values of ≤ 0.05. Twelve clusters of SNPs with p-values ≤ 0.001 were identified. No significant association was identified at a previously reported PDS locus (GPDS1).
A genome-wide association study of a small cohort of PDS patients and controls identified 12 chromosomal loci that may contain risk alleles for PDS. Follow-up studies with larger cohorts may confirm these associations and facilitate identification of the specific DNA sequences that are the source of these potential PDS risk alleles.
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