Purpose: To evaluate CLU polymorphisms in patients with pseudoexfoliation syndrome.
Materials and methods: We studied 81 patients (23 males and 58 females, the median age 76 years) and 91 control subjects (27 males and 64 females, the median age 75 years). Genotypes of the CLU polymorphisms (SNPs), rs3087554 and rs2279590, were determined using a commercially available validated genotyping assays. The χ 2 test was performed to compare patient and control groups for possible associations between SNP genotype/allele frequency and disease state.
Results: There were no significant differences for both allele and genotype frequencies between PEX patients and controls for rs3087554 and rs2279590 polymorphisms. The haplotypes distribution shows statistically significant difference between groups (p=0.03). The haplotype (CT) more often was found in controls than in PEX patients, conferring an 18-fold decreased risk to the disease.
Conclusion: Our results indicate that CLU variants may contribute to the risk of PEX in the Polish population.