Results

RDF/XMLNTriplesTurtleShow queryShare ▶
SubjectPredicateObject
http://purl.uniprot.org/citations/23776437http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/23776437http://www.w3.org/2000/01/rdf-schema#comment"

Purpose

The 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.

Methods

We 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.

Results

There 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).

Conclusions

Our 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."xsd:string
http://purl.uniprot.org/citations/23776437http://purl.org/dc/terms/identifier"doi:10.1371/journal.pone.0064052"xsd:string
http://purl.uniprot.org/citations/23776437http://purl.uniprot.org/core/author"Liu P."xsd:string
http://purl.uniprot.org/citations/23776437http://purl.uniprot.org/core/author"Qu X."xsd:string
http://purl.uniprot.org/citations/23776437http://purl.uniprot.org/core/author"Zhang L."xsd:string
http://purl.uniprot.org/citations/23776437http://purl.uniprot.org/core/author"Xu J.W."xsd:string
http://purl.uniprot.org/citations/23776437http://purl.uniprot.org/core/author"Liu D.R."xsd:string
http://purl.uniprot.org/citations/23776437http://purl.uniprot.org/core/author"Zhao X.Z."xsd:string
http://purl.uniprot.org/citations/23776437http://purl.uniprot.org/core/date"2013"xsd:gYear
http://purl.uniprot.org/citations/23776437http://purl.uniprot.org/core/name"PLoS One"xsd:string
http://purl.uniprot.org/citations/23776437http://purl.uniprot.org/core/pages"e64052"xsd:string
http://purl.uniprot.org/citations/23776437http://purl.uniprot.org/core/title"Association of a rare haplotype in Kinesin light chain 1 gene with age-related cataract in a han chinese population."xsd:string
http://purl.uniprot.org/citations/23776437http://purl.uniprot.org/core/volume"8"xsd:string
http://purl.uniprot.org/citations/23776437http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/23776437
http://purl.uniprot.org/citations/23776437http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/23776437
http://purl.uniprot.org/uniprot/#_Q07866-mappedCitation-23776437http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23776437
http://purl.uniprot.org/uniprot/#_B4DGB3-mappedCitation-23776437http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23776437
http://purl.uniprot.org/uniprot/#_B5BU63-mappedCitation-23776437http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23776437
http://purl.uniprot.org/uniprot/#_Q13865-mappedCitation-23776437http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23776437
http://purl.uniprot.org/uniprot/#_Q7RTP8-mappedCitation-23776437http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23776437
http://purl.uniprot.org/uniprot/#_Q7RTQ0-mappedCitation-23776437http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23776437
http://purl.uniprot.org/uniprot/#_Q7RTQ1-mappedCitation-23776437http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23776437
http://purl.uniprot.org/uniprot/#_Q7RTQ2-mappedCitation-23776437http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23776437
http://purl.uniprot.org/uniprot/#_Q7RTQ4-mappedCitation-23776437http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23776437
▶