Purchase this article with an account.
G. Hollo, A. Gal, P. Kothy, J. M. Molnar; LOXL1 Gene Sequence Variants and Vascular Disease in Exfoliation Syndrome and Exfoliative Glaucoma. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2192.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
To investigate whether the single nucleotide polymorphisms (SNPs) of the LOXL1 gene associated with exfoliation syndrome (XFS) and exfoliative glaucoma (XFG) are different in XFS/XFG patients with and without cardiovascular disease (CVD); and to compare the allele frequencies in XFS/XFG with those in ischemic cerebrovascular disease (stroke), in the Hungarian population.
G153D and R141L allele frequencies were determined for 56 XFS/XFG patients (10 patients with and 45 without CVD, 1 patient unclassified), and for 189 patients with stroke.
For G153D the frequencies of guanine (G) and adenine (A) alleles were 71.4% and 28.6% in the ischemic stroke group, and 58.0% and 42.0% in XFS/XFG (Chi-square test, p=0.008). The corresponding figures in XFS/XFG without CVD were 56.7% and 43.3%, and 60.0% and 40.0% in XFS/XFG with CVD (p=0.785). For R141L the frequencies of G and timidine (T) alleles were 68.2% and 31.7% in stroke patients, and 82.1% and 17.9% in XFS/XFG (p=0.004). No difference was seen for allele frequency distribution between XFS/XFG patients without and with CVD (84.4% and 15.6%; 80.0% and 20.0%, respectively, p=0.738).
In Hungarians, the frequency of G (risk) allele of G153D SNP is low in XFS/XFG. The frequency of G allele in R141L and G153D SNPs of the LOXL1 gene does not differ between XFS/XFG patients with and without CVD, but its frequency is different in XFS/XFG and ischemic stroke. These results suggest that the G allele in these SNPs has no direct role in the development of vascular diseases associated with XFS/XFG.
This PDF is available to Subscribers Only