title: The link between apolipoprotein E, presenilin 1, and kinesin light chain 1 gene polymorphisms and age-related cortical cataracts in the Chinese population.
abstract: OBJECTIVE
  To study whether presenilin 1 (PSEN1), apolipoprotein E (APOE), and kinesin light chain 1 (KLC1) genotypes are associated with the risk of developing age-related cortical cataracts in the Han Chinese population.
  
  
  METHODS
  We collected and analyzed the blood samples of 227 cortical cataract patients and 263 controls. Genotyping was performed by direct sequencing after PCR amplification, and allele frequencies were tested for the Hardy-Weinberg equilibrium.
  
  
  RESULTS
  The G allele and GG genotype of KLC1 rs8702 were significantly over-represented among cataract patients, as compared to healthy controls (allele P[χ2]=0.001 and genotype P[χ2]=0.008, respectively) and are associated with an odds ratio for cataract development of 1.54 (95% confidence interval of 1.19-2.01). More specifically, carrying the rs8702 C allele was associated with a decreased cortical cataract risk among individuals devoid of the APOE4 allele (OR=0.55; P[χ2]=0.003), whereas it has no significant effect among APOE4 carriers (OR=0.57; P[χ2]=0.36).
  
  
  CONCLUSIONS
  The KLC1 and APOE genes may be novel susceptibility genes for age-related cataracts.
authors.affiliation: Department of Ophthalmology, Research Institute of Field Surgery, Da Ping Hospital, Third Military Medical University, 10 Chang Jiang Road, Chongqing, China.
authors.forename: Min
authors.initials: M
authors.lastname: Wu
authors.affiliation: Department of Ophthalmology, Research Institute of Field Surgery, Da Ping Hospital, Third Military Medical University, 10 Chang Jiang Road, Chongqing, China.
authors.forename: Can
authors.initials: C
authors.lastname: Zheng
authors.affiliation: Department of Ophthalmology, Research Institute of Field Surgery, Da Ping Hospital, Third Military Medical University, 10 Chang Jiang Road, Chongqing, China.
authors.forename: Rong-Di
authors.initials: RD
authors.lastname: Yuan
authors.affiliation: Department of Ophthalmology, Research Institute of Field Surgery, Da Ping Hospital, Third Military Medical University, 10 Chang Jiang Road, Chongqing, China.
authors.forename: Min
authors.initials: M
authors.lastname: Sun
authors.affiliation: Department of Ophthalmology, Research Institute of Field Surgery, Da Ping Hospital, Third Military Medical University, 10 Chang Jiang Road, Chongqing, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Xu
authors.affiliation: Department of Ophthalmology, Research Institute of Field Surgery, Da Ping Hospital, Third Military Medical University, 10 Chang Jiang Road, Chongqing, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Ye
mesh_terms: D000368:Aged; D000483:Alleles; D053327:Apolipoprotein E4 / Q000235:genetics*; D044466:Asian People; D016022:Case-Control Studies; D002386:Cataract / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D016547:Kinesins; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D016017:Odds Ratio; D053764:Presenilin-1 / Q000235:genetics*; D012306:Risk
chemical_list: D053327:Apolipoprotein E4; C000715688:KLC1 protein, human; D008869:Microtubule-Associated Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D016547:Kinesins