LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population.
Mol Vis
; 14: 1037-40, 2008 Jun 05.
Article
em En
| MEDLINE
| ID: mdl-18552979
ABSTRACT
PURPOSE:
We performed genetic association studies using a native Japanese population to examine the reproducibility of results of lysyl oxidase-like 1 (LOXL1) genetic association studies for exfoliation glaucoma (XFG) beyond the differences of ethnicity. We also quantified LOXL1 mRNA expression in the human lens capsule to examine the possible correlation between LOXL1 expression and XFG pathogenesis.METHODS:
We performed a case-control study using 95 Japanese XFG patients and 190 controls. Real-time polymerase chain reaction (PCR) analysis was performed using lens capsules obtained during surgery.RESULTS:
The TT genotype in the single nucleotide polymorphism (SNP) rs1048661 and the GG genotype in the SNP rs3825942 in exon 1 of LOXL1 were significantly associated with an increased risk of XFG under recessive models (chi(2) test, p=5.34 x 10(-34) and p=2.1 x 10(-8), respectively). Quantification of LOXL1 mRNA expression demonstrated no significant difference between XFG and senile cataract samples.CONCLUSIONS:
Although the functional effects of the LOXL1 SNP appear to be qualitative rather than quantitative, the amino acid substitution (R141L) caused by SNP rs1048661 is not a simple decisive factor for XFG due to the inverted allele frequency between Japanese XFG and Caucasian XFG patients. Further genetic and functional studies are essential for clarifying XFG pathogenesis.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Glaucoma
/
Síndrome de Exfoliação
/
Predisposição Genética para Doença
/
Polimorfismo de Nucleotídeo Único
/
Povo Asiático
/
Aminoácido Oxirredutases
Tipo de estudo:
Observational_studies
/
Prognostic_studies
/
Qualitative_research
/
Risk_factors_studies
Limite:
Aged
/
Aged80
/
Humans
/
Middle aged
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article