Analysis ofLOXL1single nucleotide polymorphisms in Polish population with pseudoexfoliation syndrome

Abstract

ABSTRACT.Purpose: To assess the possible association of lysyl oxidase-like 1 (LOXL1) gene variants with pseudoexfoliation syndrome (PEX) in Polish population. Methods: The group studied comprised of 36 patients with PEX (men and women) who presented to Department of Ophthalmology Collegium Medicum UMK in Bydgoszcz, Poland, and 30 control subjects. Blood samples were obtained from each patient via peripheral venipuncture, and genomic DNA was isolated according to the standard procedures. Three LOXL1 single nucleotide polymorphisms (SNPs) rs1048661 (R141L), rs3825942 (G153D) and rs216524 were genotyped in patient sample. Results: The significant association with PEX was found 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. Conclusion: Single nucleotide polymorphisms in LOXL1 are associated with PEX in Polish population which confirms the association previously reported for Icelandic, Swedish, Indian and other populations.

The Relationship between Caffeine and Coffee Consumption and Exfoliation Glaucoma or Glaucoma Suspect: A Prospective Study in Two Cohorts

“…An association between the lysyl oxidase like 1 (LOXL1) gene variants and exfoliation syndrome (ES) was discovered in Iceland where the disease burden is very high 2 ; yet the prevalence of LOXL1 polymorphisms from Scandinavian countries is similar to that of other countries with widely varying disease prevalence. [3][4][5][6][7][8][9][10] While genetic variants other than LOXL1 polymorphisms might contribute to ES and EG, 11 these data suggest that environmental factors could also play a role in this syndrome. Established risk factors for ES and EG includes older age 12,13 and female sex.…”

Exfoliation Syndrome and Solar Exposure

“…12–14 However no study has been performed to date that proves that Scandinavian ethnicity increases the risk of developing XFS. 14 …”

Consideration for Gene-Environment Interactions as Novel Determinants of Exfoliation Syndrome

“…10-18 Since the effect size for the associated alleles were large, and these researchers were not hampered by having to adjust for multiple comparisons, which requires stringent p-values, a sample with as few as 36 cases and 30 controls confirmed the results found in Iceland. 19 Furthermore, the results were relatively consistent in populations worldwide. Interestingly, the risk alleles were found to be reversed in a South African population 17,20 and in Asian populations.…”