PMID- 23882136
OWN - NLM
STAT- MEDLINE
DCOM- 20130924
LR  - 20211021
IS  - 1090-0535 (Electronic)
IS  - 1090-0535 (Linking)
VI  - 19
DP  - 2013
TI  - Genetic variations and polymorphisms in the ezrin gene are associated with 
      age-related cataract.
PG  - 1572-9
AB  - PURPOSE: Age-related cataract (ARC) is a complex multifactorial disorder, 
      including genetic and environmental factors. Ezrin (EZR), a member of the 
      ezrin/radixin/moesin (ERM) protein family, plays a crucial role in the 
      development of the lens as a plasma membrane-cytoskeleton linker. We conducted 
      this study to investigate the role of genetic variations of ezrin and the 
      relationship between single nucleotide polymorphisms (SNPs) in EZR and 
      susceptibility to ARC in a Chinese population. METHODS: A total of 205 sporadic 
      age-related cataract patients and 218 unrelated random healthy controls 
      participated in our study. Genomic DNA was extracted from peripheral blood 
      leukocytes. All exons of EZR were sequenced after being amplified with polymerase 
      chain reaction. The functional consequences of the mutations were analyzed using 
      PolyPhen2. SNP statistical analysis was performed using SNPstats. RESULTS: We 
      found three novel variations in 205 patients. None presented in the 218 controls, 
      including c.441C>G, c.924G>C, and c.1503G>A. PolyPhen2 predicted that the 
      c.924G>C mutation probably had pathogenicity. Compared with the healthy controls, 
      the rs5881286 -/GT genotype and - allele frequencies (p=0.0012; odds ratio 
      [OR]=3.37; 95% confidence interval [CI]=1.70-6.70; p=3.96e-5; chi(2)=18.98, 
      respectively), rs2242318 T/C genotype and C allele frequencies (p=0.0045; 
      OR=3.40; 95% CI=1.70-6.79; p=8.82e-6; chi(2)=21.86, respectively), and rs144581330 
      A/G genotype and G allele frequencies (p=0.0472; OR=14.46; 95% CI=1.29-162.43; 
      p=0.0244, chi(2)=6.99, respectively) were higher in the patients with age-related 
      cataract. SNP rs144581330 in exon 2 was also predicted to be probably damaging by 
      PolyPhen2. Haplotype association including the - allele of rs5881286, C allele of 
      rs2242318, and A allele of rs144581330 exhibited significantly higher 
      distribution in the patients with ARC (p=8.0e-4; OR=3.38; 95% CI=1.66-6.87). 
      CONCLUSIONS: This study suggests that the genetic variations and SNPs in the gene 
      EZR possibly contribute to the development of age-related cataracts in the 
      Chinese population.
FAU - Lin, Qinghong
AU  - Lin Q
AD  - Department of Ophthalmology, the Second Affiliated Hospital of Harbin Medical 
      University, Harbin, China.
FAU - Zhou, Nan
AU  - Zhou N
FAU - Zhang, Na
AU  - Zhang N
FAU - Zhu, Bidan
AU  - Zhu B
FAU - Hu, Shanshan
AU  - Hu S
FAU - Zhou, Zhou
AU  - Zhou Z
FAU - Qi, Yanhua
AU  - Qi Y
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130720
PL  - United States
TA  - Mol Vis
JT  - Molecular vision
JID - 9605351
RN  - 0 (Cytoskeletal Proteins)
RN  - 0 (ezrin)
SB  - IM
MH  - Aged
MH  - Aging/*genetics/pathology
MH  - Animals
MH  - Base Sequence
MH  - Cataract/*genetics
MH  - Computer Simulation
MH  - Conserved Sequence/genetics
MH  - Cytoskeletal Proteins/*genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Gene Frequency/genetics
MH  - *Genetic Association Studies
MH  - *Genetic Predisposition to Disease
MH  - Genome, Human/genetics
MH  - Haplotypes/genetics
MH  - Humans
MH  - Linkage Disequilibrium/genetics
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Mutation/genetics
MH  - *Polymorphism, Genetic
MH  - Polymorphism, Single Nucleotide/genetics
MH  - Software
MH  - Species Specificity
PMC - PMC3718490
EDAT- 2013/07/25 06:00
MHDA- 2013/09/26 06:00
PMCR- 2013/01/01
CRDT- 2013/07/25 06:00
PHST- 2012/08/25 00:00 [received]
PHST- 2013/07/15 00:00 [accepted]
PHST- 2013/07/25 06:00 [entrez]
PHST- 2013/07/25 06:00 [pubmed]
PHST- 2013/09/26 06:00 [medline]
PHST- 2013/01/01 00:00 [pmc-release]
AID - 161 [pii]
PST - epublish
SO  - Mol Vis. 2013 Jul 20;19:1572-9. Print 2013.