title: Study of Association between Pre-Senile Cataracts and the Polymorphisms rs2228000 in XPC and rs1042522 in p53 in Spanish Population.
abstract: To determine if the presence of certain polymorphisms in the DNA repair gene XPC and the apoptosis inductor gene p53 is associated with pre-senile cataract development.
  
  
  
  We have performed a retrospective study over three groups of patients. The group with pre-senile cataract formed by 72 patients younger than 55 with cataract surgery. The group with senile cataract formed by 101 patients older than 55 with cataract surgery. The group without cataract was formed by 42 subjects older than 55 without lens opacities. We analyzed the presence of SNP rs2228000 from XPC and rs1042522 from p53; and the relationship between risk factors such as smoking, alcohol intake, hypertension or diabetes.
  
  
  
  The comparison of the genotype distribution in XPC, within the different groups, did not show any statistically significant association in any of our analysis (p>0,05). The comparison of the genotype distribution in p53 within the different groups did not show any statistically significant association (p>0,05); except for the comparison between the pre-senile cataract group and the group with senile cataract where the genotype Pro/Pro (C/C) in the recessive inheritance model showed a higher risk for developing pre-senile cataract (p = 0,031; OR = 1.04-15.97). This association decreased when we performed the analysis adjusting by the studied risk factors (p = 0.056).
  
  
  
  Allelic variants in the gene XPC are not associated with an increased risk for developing pre-senile cataract. The presence of the genotype Pro/Pro in p53 might be associated with a major risk for developing pre-senile cataract.
authors.affiliation: Hospital Royo Villanova, Zaragoza, Spain.|Hospital Universitario Miguel Servet, Zaragoza, Spain.
authors.forename: Gloria
authors.initials: G
authors.lastname: López Valverde
authors.affiliation: Hospital Universitario Miguel Servet, Zaragoza, Spain.|Instituto de Investigación Sanitaria Aragón (IIS Aragon), Zaragoza, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Garcia Martin
authors.affiliation: Hospital Universitario Miguel Servet, Zaragoza, Spain.|Instituto de Investigación Sanitaria Aragón (IIS Aragon), Zaragoza, Spain.
authors.forename: José M
authors.initials: JM
authors.lastname: Larrosa Povés
authors.affiliation: Hospital Universitario Miguel Servet, Zaragoza, Spain.|Instituto de Investigación Sanitaria Aragón (IIS Aragon), Zaragoza, Spain.
authors.forename: Vicente
authors.initials: V
authors.lastname: Polo Llorens
authors.affiliation: Molecular Medicine Unit, Department of Medicine, Institute of Molecular and Cellular Biology of Cancer and Institute of Biomedical Research of Salamanca, University of Salamanca-University Hospital of Salamanca CSIC, Salamanca, Spain
authors.forename: Javier
authors.initials: J
authors.lastname: Fernández Mateos
authors.affiliation: Hospital Universitario Miguel Servet, Zaragoza, Spain.|Instituto de Investigación Sanitaria Aragón (IIS Aragon), Zaragoza, Spain.
authors.forename: Luis E
authors.initials: LE
authors.lastname: Pablo Júlvez
authors.affiliation: Molecular Medicine Unit, Department of Medicine, Institute of Molecular and Cellular Biology of Cancer and Institute of Biomedical Research of Salamanca, University of Salamanca-University Hospital of Salamanca CSIC, Salamanca, Spain
authors.forename: Rogelio
authors.initials: R
authors.lastname: González Sarmiento
mesh_terms: D000328:Adult; D000368:Aged; D002386:Cataract / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D013030:Spain; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D016159:Tumor Suppressor Protein p53; C086984:XPC protein, human