title: Association of a rare haplotype in Kinesin light chain 1 gene with age-related cataract in a han chinese population.
abstract: OBJECTIVE
  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.
authors.affiliation: Eye Hospital, The First Affiliated Hospital, Harbin Medical University, Harbin, China. 13796089809@163.com
authors.forename: Lu
authors.initials: L
authors.lastname: Zhang
authors.forename: Jia-Wei
authors.initials: JW
authors.lastname: Xu
authors.forename: Xin
authors.initials: X
authors.lastname: Qu
authors.forename: Dong-Rui
authors.initials: DR
authors.lastname: Liu
authors.forename: Ping
authors.initials: P
authors.lastname: Liu
authors.forename: Xin-Zhi
authors.initials: XZ
authors.lastname: Zhao
mesh_terms: D000367:Age Factors; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics; D002386:Cataract / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D016547:Kinesins; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008875:Middle Aged
chemical_list: C000715688:KLC1 protein, human; D008869:Microtubule-Associated Proteins; D016547:Kinesins