Abstract
Introduction: Glaucoma is an optic neuropathy that leads to visual field defects. Genetic mechanisms seem to be involved in glaucoma development. Lysyl Oxidase Like 1 (LOXL1) has been described in previous studies as a predictor factor for exfoliation glaucoma. The present article studied the association between three single nucleotide polymorphisms (SNPs) in the LOXL1 gene and the presence of exfoliation glaucoma in Southwestern Sweden. Methods: Case-control study for genetic association. In total, 136 patients and 1011 controls were included in the study. Patients with exfoliation glaucoma were recruited at the Eye Department of Sahlgrenska University Hospital and Skaraborgs Hospital, Sweden. Controls were recruited from the Gothenburg H70 Birth Cohort Study. Three different SNPs were genotyped: LOXL1_rs3825942, LOXL1_rs2165241 and LOXL1_rs1048661. Results: The distribution of allele frequencies was significantly different between controls and glaucoma patients; for rs3825942 (p = 2 × 10−12), for rs2165241 (p = 3 × 10−16) and for rs1048661 (p = 2 × 10−6). Logistic regression analyses using an additive genetic model, adjusted for sex and age, also showed associations between the studied SNPs and glaucoma (p = 9 × 10−6; p = 2 × 10−14; p = 1 × 10−4). Conclusion: A strong association was found between allele frequencies of three different SNPs (LOXL1_rs3825942, LOXL1_rs2165241, and LOXL1_rs1048661) and the presence of exfoliation glaucoma in a Southwestern Swedish population.
Highlights
Glaucoma is an optic neuropathy that leads to visual field defects
A strong association was found between allele frequencies of three different single nucleotide polymorphisms (SNPs) (LOXL1_rs3825942, LOXL1_rs2165241, and LOXL1_rs1048661) and the presence of exfoliation glaucoma in a Southwestern Swedish population
A Mann–Whitney U-test demonstrated a significant difference in age when comparing the control individuals vs. glaucoma patients (p < 0.001)
Summary
Glaucoma is an optic neuropathy that leads to visual field defects. Lysyl Oxidase Like 1 (LOXL1) has been described in previous studies as a predictor factor for exfoliation glaucoma. The present article studied the association between three single nucleotide polymorphisms (SNPs) in the LOXL1 gene and the presence of exfoliation glaucoma in Southwestern Sweden. Glaucoma is an optic neuropathy that leads to impaired vision, first in the peripheral visual field, but it may decrease central visual acuity as the disease progresses. Glaucoma is the most common cause of blindness [1]. The cause of glaucoma still remains unknown, but several risk factors have been identified, of which increased intraocular pressure (IOP) is the most common [2]. There are different types of glaucoma; the two most common in Scandinavia are primary open-angle (POAG) and exfoliation glaucoma (EXFG) [3]
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