AIM:To investigate the relationship between genetic variations of LOXL1 gene and pseudoexfoliation syndrome in Chinese Uygur population.

METHODS: Fifty patients with exfoliation syndrome(case group, including 39 males and 11 females)and 58 cases of normal individuals(control group, including 40 males and 18 females)were randomly selected. Genomic DNA was extracted and 3 single nucleotide polymorphisms(rs1048661, rs2165241 and rs3825942)of LOXL1 gene were genotyped using PCR-sequencing technology for all subjects. Then a case-control study was conducted.

RESULTS: The average age of the case group was higher than that of the control group(P=0.039). The distribution of the genotypes of rs1048661 and rs3825942 polymorphism was similar between case and controls(P=0.196, P=0.584). The CT and TT genotype frequency of rs2165241were significantly higher in case group than that of the control group(P=0.001). After adjustment for age and gender, the odds ratio of exfoliation syndrome was 2.850 for carriers of the CT genotype(P= 0.029), and 13.398 for carriers of the TT genotype(P=0.001).

CONCLUSION: The genetic variations of LOXL1 gene(rs2165241)may be associated with the exfoliation syndrome in Uygur. T allele may be the risk factor for the predisposing of exfoliation syndrome in Uygur.