Study of association between pre-senile cataracts and rs11615 of ERCC1, rs13181 of ERCC2, and rs25487 of XRCC1 polymorphisms in a Spanish population.
The purpose of this study was to attempt to determine if the presence of certain polymorphisms in the DNA repair genes (ERCC1, ERCC2, and XRCC1) is associated with pre-senile cataract development.



We performed a retrospective study over three groups of patients. The first group with pre-senile cataract was formed by 72 patients younger than 55 years with cataract surgery. The second group with senile cataract was formed by 101 patients older than 55 years with cataract surgery. And the third group, without cataract, was formed by 42 subjects older than 55 years without lens opacities. We analyzed the presence of SNP rs11615 from ERCC1, rs13181 from ERCC2, and rs25487 from XRCC1 and the relationship between risk factors such as smoking, alcohol intake, hypertension, and diabetes.



The comparison of the genotype distribution in ERCC1 and ERCC2 did not show any statistically significant association in any of our analyses (p > 0.05). The comparison of the genotype distribution in XRCC1 within the different groups did not show any statistically significant associations (p > 0.05), except for the comparison between the pre-senile cataract group and the group without cataract, where an increased risk of developing pre-senile cataract for the genotype Gln/Gln (p = 0.029; OR = 1.02-40.67) in recessive inheritance models was observed when adjusting for risk factors.



Allelic variants in ERCC1 and ERCC2 are not associated with an increased risk of developing pre-senile cataract. The presence of Gln/Gln in XRCC1 in the pre-senile cataract group with regard to the group without cataract is associated with a major risk of developing pre-senile cataract.
a Department of Ophthalmology , University Hospital of Salamanca , Salamanca , Spain.|b Department of Ophthalmology , Royo Villanova Hospital , Zaragoza , Spain.|c Department of Ophthalmology , Miguel Servet University Hospital , Zaragoza , Spain.
Gloria
G
López-Valverde
c Department of Ophthalmology , Miguel Servet University Hospital , Zaragoza , Spain.|d Department of Ophthalmology , Instituto de Investigaciones Sanitarias de Aragón (IIS Aragon) , Zaragoza , Spain.
Elena
E
Garcia-Martin
e 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.
Javier
J
Fernández-Mateos
a Department of Ophthalmology , University Hospital of Salamanca , Salamanca , Spain.
Fernando
F
Cruz-González
c Department of Ophthalmology , Miguel Servet University Hospital , Zaragoza , Spain.|d Department of Ophthalmology , Instituto de Investigaciones Sanitarias de Aragón (IIS Aragon) , Zaragoza , Spain.
José M
JM
Larrosa-Povés
c Department of Ophthalmology , Miguel Servet University Hospital , Zaragoza , Spain.|d Department of Ophthalmology , Instituto de Investigaciones Sanitarias de Aragón (IIS Aragon) , Zaragoza , Spain.
Vicente
V
Polo-Llorens
c Department of Ophthalmology , Miguel Servet University Hospital , Zaragoza , Spain.|d Department of Ophthalmology , Instituto de Investigaciones Sanitarias de Aragón (IIS Aragon) , Zaragoza , Spain.
Luis E
LE
Pablo-Júlvez
e 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.
Rogelio
R
González-Sarmiento
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000437:Alcoholism / Q000150:complications; D002386:Cataract / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D048909:Diabetes Complications; D004720:Endonucleases / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000150:complications; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D012189:Retrospective Studies; D012307:Risk Factors; D012907:Smoking / Q000009:adverse effects; D000076105:X-ray Repair Cross Complementing Protein 1 / Q000235:genetics*; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
D004268:DNA-Binding Proteins; D000076105:X-ray Repair Cross Complementing Protein 1; C000619371:XRCC1 protein, human; C071447:ERCC1 protein, human; D004720:Endonucleases; D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human
DNA repair genes; ERCC1; ERCC2; SNP; XRCC1; pre-senile cataracts