What is deCODE Glaucoma™?
deCODE Glaucoma™ is a reference laboratory DNA test for assessing an inherited risk factor for exfoliation glaucoma, a major subtype of the group of eye disorders termed Glaucoma. The test detects versions of markers called SNPs (single nucleotide polymorphisms) – a one letter variation in the sequence of the genome, more specifically on chromosome 15 - that deCODE has linked to an increased risk of exfoliation glaucoma.
deCODE´s research has in two independent study groups determined that two non-synonymous changes in exon 1 of the LOXL1 gene on chromosome 15q24.1 confer risk to exfoliation glaucoma, possibly through the exfoliation syndrome. In Iceland and Sweden, the high-risk haplotype is very common with an average frequency of about 50% in the general population. About 25% of individuals in the general population are homozygous for the haplotype with the highest risk, and their risk of suffering from exfoliation glaucoma is estimated to be about 100 times that of individuals carrying only the low-risk haplotype, or about 2.47 times that of the population average. Jointly, the two non-synonymous changes account for more than 99% of all exfoliation glaucoma cases. The product of the LOXL1 gene modifies elastin fibers that are a major constituent of the intraocular lesions in exfoliation glaucoma.
Read more: Genetic risk of Glaucoma >>