LOXL1 gene sequence variants and vascular disease in exfoliation syndrome and exfoliative glaucoma

G. Holló, Anikó Gál, Péter Kóthy, Judit M. Molnár

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

PURPOSE: 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. METHODS: 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. RESULTS: 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 (χ 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). CONCLUSIONS: In Hungarians, the frequency of G (risk) allele of G153D SNP was low in XFS/XFG. The frequency of G allele in R141L and G153D SNPs of the LOXL1 gene did not differ between XFS/XFG patients with and without CVD, but its frequency was 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.

Original languageEnglish
Pages (from-to)143-147
Number of pages5
JournalJournal of Glaucoma
Volume20
Issue number3
DOIs
Publication statusPublished - Mar 2011

Fingerprint

Exfoliation Syndrome
Vascular Diseases
Glaucoma
Genes
Cardiovascular Diseases
Gene Frequency
Stroke
Single Nucleotide Polymorphism
Alleles
Cerebrovascular Disorders
Guanine
Adenine

Keywords

  • cardiovascular disease
  • cerebrovascular disease
  • exfoliation syndrome
  • exfoliative glaucoma
  • LOXL1 gene polymorphism

ASJC Scopus subject areas

  • Ophthalmology

Cite this

LOXL1 gene sequence variants and vascular disease in exfoliation syndrome and exfoliative glaucoma. / Holló, G.; Gál, Anikó; Kóthy, Péter; Molnár, Judit M.

In: Journal of Glaucoma, Vol. 20, No. 3, 03.2011, p. 143-147.

Research output: Contribution to journalArticle

Holló, G. ; Gál, Anikó ; Kóthy, Péter ; Molnár, Judit M. / LOXL1 gene sequence variants and vascular disease in exfoliation syndrome and exfoliative glaucoma. In: Journal of Glaucoma. 2011 ; Vol. 20, No. 3. pp. 143-147.
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abstract = "PURPOSE: 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. METHODS: 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. RESULTS: 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 (χ 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). CONCLUSIONS: In Hungarians, the frequency of G (risk) allele of G153D SNP was low in XFS/XFG. The frequency of G allele in R141L and G153D SNPs of the LOXL1 gene did not differ between XFS/XFG patients with and without CVD, but its frequency was 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.",
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AU - Kóthy, Péter

AU - Molnár, Judit M.

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N2 - PURPOSE: 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. METHODS: 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. RESULTS: 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 (χ 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). CONCLUSIONS: In Hungarians, the frequency of G (risk) allele of G153D SNP was low in XFS/XFG. The frequency of G allele in R141L and G153D SNPs of the LOXL1 gene did not differ between XFS/XFG patients with and without CVD, but its frequency was 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.

AB - PURPOSE: 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. METHODS: 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. RESULTS: 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 (χ 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). CONCLUSIONS: In Hungarians, the frequency of G (risk) allele of G153D SNP was low in XFS/XFG. The frequency of G allele in R141L and G153D SNPs of the LOXL1 gene did not differ between XFS/XFG patients with and without CVD, but its frequency was 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.

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