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Researchers Discover Genetic Cause of Exfoliation Glaucoma

One in four people have LOXL1 gene variants associated with 700-fold higher risk

THURSDAY, Aug. 9 (HealthDay News) -- Researchers have identified mutations in a gene that appear to account for 99 percent of cases of exfoliation glaucoma, according to a report published Aug. 9 in Science. The LOXL1 gene is involved in the production of elastin polymer fibers that play a role in exfoliation syndrome, a leading cause of secondary glaucoma.

Gudmar Thorleifsson, Ph.D., of deCODE genetics, Inc. in Reykjavik, Iceland, and colleagues conducted a genome-wide association study of two cohorts of patients from Iceland and Sweden to identify genes related to glaucoma.

Two different single-nucleotide polymorphisms in exon 1 of the gene LOXL1 were found to be associated with exfoliation glaucoma, accounting for 99 percent of all cases. The researchers report that 25 percent of the population is homozygous for the highest risk haplotype, and those individuals carry a 700-fold greater risk of exfoliation glaucoma compared to those with low-risk haplotypes.

"In summary, we have demonstrated in two independent study groups that two non-synonymous changes in exon 1 of the LOXL1 gene on chromosome 15q24.1 confer risk to exfoliation glaucoma, possibly through exfoliation syndrome," the authors write.

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