Abstract
Purpose: :
To investigate the association between single nucleotide polymorphisms (SNPs) in apolipoprotein E (APOE), p53 and p21 genes with primary open-angle glaucoma (POAG) in Turkish patients.
Methods: :
Seventy-five POAG patients (49 women and 26 men) and 119 healthy subjects (67 women and 52 men) were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Allele and genotype frequencies between healthy subjects and glaucoma patients were compared by the Χ2 test, whereas non-parametric Kruskal-Wallis and Mann-Whitney U tests were used to evaluate the differences in maximum intraocular pressure (IOP), cup/disc ratio (C/D) and visual field indices (MD and PSD) among APOE, p53 and p21 genotypes in POAG group. p<0.05 was considered as statistically significant.
Results: :
The mean age was 63.0±9.8 years in POAG group and 61.7±10.2 years in control group. There were no significant differences in the distribution of APOE, p53 and p21 genotypes between the POAG patients and controls (p=0.38, p=0.12 and p=0.2, respectively). Maximum IOP, MD and PSD values among different groups of p53 and p21genotypes did not differ significantly. POAG subjects with e2e3 genotype had worse visual field defects (median PSD=2.2) than those with e3e4 genotypes (median PSD=1.77) (p=0.01) and POAG subjects with e3e3 genotypes had worser MD and PSD values (median= -7.4 and 3.4 , respectively) than those with e3e4 genotypes (median= -4.1 and 1.77 , respectively) (p=0.034 and 0.028, respectively).
Conclusions: :
SNPs in APOE, p53 and p21 genes are not linked to POAG in Turkish patients. POAG subjects with e3e3 genotypes had worse visual field defects; however bigger sample size is needed to show the effect of APOE genotypes on the clinical features of POAG.
Keywords: genetics • gene screening • linkage analysis