Variability in the kinesin light chain 1 gene may influence risk of age-related cataract

Autor: Andersson, Malin E., Zetterberg, Madeleine, Tasa, Gunnar, Seibt-Palmér, Mona, Juronen, Erkki, Teesalu, Pait, Blennow, Kaj, Zetterberg, Henrik
Jazyk: angličtina
Rok vydání: 2007
Předmět:
Zdroj: Molecular Vision
ISSN: 1090-0535
Popis: Purpose Kinesin-mediated cargo vesicle transport is fundamental to the maintenance of a proper lens fiber structure, which is essential for the transparency of the lens. Here, we test the hypothesis that the rs8702 polymorphism in the kinesin light chain 1 gene (KLC1), previously linked to Alzheimer disease (AD), may play a role in cataractogenesis. Methods Patients with nuclear (n=76), cortical (n=154), posterior subcapsular (n=117), and mixed (n=148) cataract as well as 183 controls were analyzed for the KLC1 rs8702 polymorphism using the dynamic allele-specific hybridization (DASH) technique. Results The GG genotype of rs8702 was significantly over-represented among cataract patients as compared to controls (63% versus 52%, respectively, p=0.008) and associated with an age-adjusted odds ratio for cataract development of 1.61 (95% confidence interval 1.12-2.31). This association was not confined to any particular cataract type. Conclusions The KLC1 gene may be a novel susceptibility gene for age-related cataract.
Databáze: OpenAIRE