title: Lack of association of the WRN C1367T polymorphism with senile cataract in the Israeli population.
abstract: OBJECTIVE
  Werner syndrome is an autosomal recessive disease of premature aging caused by a polymorphic C1367T mutation in the Werner (WRN) gene. Although there are differences between the pathobiology of normal aging and the phenotype of Werner syndrome, the clinical age-related changes are similar. The aim of the study was to investigate the incidence of the C1367T (rs1346044) polymorphism in patients with age-related cataract.
  
  
  METHODS
  The study group consisted of 81 patients with senile cataract undergoing cataract extraction surgery. Data on age, sex, and medical history of microvascular disease and cancer were obtained from the medical files. Anterior lens capsule material was collected during surgery. DNA was extracted, amplified by polymerase chain reaction, and screened for the C1367T polymorphism in WRN using restriction enzymes followed by sequencing.
  
  
  RESULTS
  There were 33 male and 48 female patients of mean age 74.3+/-9 years. Genotypic frequencies were 67% for TT and 33% for TC. None of the patients had the CC genotype. Ten patients had a history of myocardial infarct, 8 cerebrovascular accident, and 8 various tumors. The distribution of these morbidities was similar in the two genotype groups.
  
  
  CONCLUSIONS
  The distribution of the C1367T WRN polymorphism in patients with senile cataract is similar to that in the normal population. Cataract formation in the elderly is not linked to a WRN mutation.
authors.affiliation: Department of Ophthalmology, Rabin Medical Center, Petach Tikva, Israel.
authors.forename: M
authors.initials: M
authors.lastname: Ehrenberg
authors.forename: O
authors.initials: O
authors.lastname: Dratviman-Storobinsky
authors.forename: B R
authors.initials: BR
authors.lastname: Avraham-Lubin
authors.forename: N
authors.initials: N
authors.lastname: Goldenberg-Cohen
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000375:Aging / Q000235:genetics / Q000473:pathology*; D000483:Alleles; D001483:Base Sequence; D002386:Cataract / Q000235:genetics*; D004252:DNA Mutational Analysis; D005090:Exodeoxyribonucleases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007557:Israel; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D053484:RecQ Helicases / Q000235:genetics*; D000071657:Werner Syndrome Helicase
chemical_list: D005090:Exodeoxyribonucleases; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase
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