Abstract
Purpose:
To investigate the three single nucleotid polymorphisms (SNPs) (rs3825942, rs1048661 and rs2165241) of LOXL1 gene in a Turkish population with pseudoexfoliation syndrome (PES) and pseudoexfoliation glucoma (PEG) cases.
Methods:
DNA was obtained from blood samples of 48 PES, 58 PEG, and 171 control cases, after then three SNPs (rs3825942, rs1048661, rs2165241) of LOXL1 gene was investigated with RT-PCR; a probe-based genotyping method.
Results:
Results: All three SNPs of LOXL1 gene in PES and PEG cases were more prevalent than healty individuals (For PES rs3825942 p= 3.54x10-6 OR=∞, rs1048661 p= 0.008 OR= 2.18 andrs2165241 p= 8.69x10-9 OR= 4.30. For PEG rs3825942 p= 3.41x10-7 OR= ∞ , rs1048661 p= 1.75x10-5 OR= 3.78 and rs2165241 p=3.85x10-11 OR= 4.90). No significant association was found between none of these SNPs with PES and PEG. rs3825942 SNP had 3-fold increased risk in men (p= 6.78x10-5 OR= 3.202). rs3825942 SNP was more valuable for distinguishing pseudoexfoliative cases from healthy individuals.
Conclusions:
In a Turkish subpopulation, the LOXL1 gene polymorphism of PES and PEG were different from healty individuals, and genetic variation was similar to European and American populations.