Variability in the kinesin light chain 1 gene may influence risk of age-related cataract.
OBJECTIVE
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.
Andersson
Malin E
ME
Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, the Sahlgrenska Academy at Göteborg University, Göteborg, Sweden.
Zetterberg
Madeleine
M
Tasa
Gunnar
G
Seibt-Palmér
Mona
M
Juronen
Erkki
E
Teesalu
Pait
P
Blennow
Kaj
K
Zetterberg
Henrik
H
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000375:Aging; D000483:Alleles; D002386:Cataract / Q000209:etiology* / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D016547:Kinesins; D016015:Logistic Models; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008875:Middle Aged; D009693:Nucleic Acid Hybridization / Q000379:methods; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D012907:Smoking
C000715688:KLC1 protein, human; D008869:Microtubule-Associated Proteins; D016547:Kinesins