ArticlePloS one2013
Association of a rare haplotype in Kinesin light chain 1 gene with age-related cataract in a han chinese population.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Association of OGG1 and MTHFR polymorphisms with age-related cataract: A systematic review and meta-analysis.PloS one · 2017Pooled it
- Study on the factors influencing lens opacity among medical radiation workers exposed to long-term low-dose ionizing radiation.Frontiers in medicine · 2025Article
- Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways.Scientific reports · 2017Article
- Microtubule motors transport phagosomes in the RPE, and lack of KLC1 leads to AMD-like pathogenesis.The Journal of cell biology · 2015Article
- Molecular Genetics of Cataract.Progress in molecular biology and translational science · 2015Review
- Developments in Ocular Genetics: 2013 Annual Review.Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe causal genes for congenital cataract are good candidates for the genetic susceptibility for age-related cataract (ARC). The aim of this study was to investigate association between the polymorphisms in the causal genes for congenital cataract and ARC in a Chinese population. Meanwhile, we performed the replication study for previous identified risk genes for ARC.
methodsWe recruited 212 sporadic Han Chinese patients with age-related cataracts (ARC) and 172 normal controls in this study. We analyzed 31 SNPs from 13 genes which mostly possible contributes the progress of ARC in a Chinese population, comprising 212 cataract patients and 172 controls. Polymorphism-spanning fragments were amplified by using the multiplex polymerase chain reaction (PCR) and genotyped using primer extension method in MassARRAY platform. Allelic and haplotypic difference in the frequencies were estimated using the SHEsis software platform. P-value was adjusted by the Bonferroni correction.
resultsThere was no difference in the frequencies of the genotype and allele of the all SNPs between the patients with ARC and the controls. In the haplotypic analysis, the haplotypes consisting of rs7154572, rs7150141 and rs12432994 in Kinesin Light Chain 1 Gene (KLC1) showed significant association with ARC (p = 0.000878). A rare haplotype CGT was more frequent in patients (p = 0.000106, and p = 0.00795 after corrected for 75 tests).
conclusionsOur study provides evidence that the combined effect of three variants within the KLC1 gene may predispose to ARC, but the precise mechanism needs further investigating.
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