Association Study of Pigment Dispersion Syndrome

Abstract

Purpose: : To identify genetic risk factors for pigment dispersion syndrome (PDS).

Methods: : 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.

Results: : 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).

Conclusions: : 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.

Keywords: genetics • gene mapping • gene microarray