Aim

To evaluate Contactin Associated Protein-Like 2 (CNTNAP2), Contactin-Associated Protein-Like 4 (CNTNAP4), Lysyl Oxidase-Like Protein 1 (LOXL1) and superoxide dismutase 1 (SOD1) gene polymorphisms in patients with pseudoexfoliation syndrome (PEX).

Material and methods

The study group consisted of 73 cataract patients with PEX and 111 controls with cataract but without PEX. Blood samples were obtained from each participant via peripheral venepuncture and genomic DNA was isolated according to the standard procedures. Genotypes of the CNTNAP4 esv12669 was determined using a commercially available assay. Previously reported chosen gene polymorphisms assessed by us in PEX patients were overviewed.

Results

There was no difference in both allele and haplotype frequencies of single-nucleotide polymorphisms (SNPs) in CNTNAP2 (rs2107856 and rs214138) and in SOD1 (rs10432782 and rs2070424) between PEX patients and controls. There was no difference in in frequencies of copy-number variations (CNVs) alleles esv12669 in the CNTNAP4 and esv11910 in the CNTNAP2 between PEX patients and controls. There were significant associations between PEX and SNPs in LOXL1- for the G allele of rs3825942 (p = 0.0047) and for the T allele of rs216541 (p = 0.021). The haplotype (GGT) consisting of all three risk alleles was significantly overrepresented (87.5%) in patients with PEX.

Conclusions

Our studies confirm a genetic basis for PEX with the significant association between the assessed LOXL1 SNPs and PEX in Polish population.