Study of association between Pre-Senile cataracts and the polymorphisms rs2228000 in XPC and rs1042522 in p53 in Spanish population

López Valverde, G. ; García Martín, E. (Universidad de Zaragoza) ; Larrosa Povés, J.M. (Universidad de Zaragoza) ; Polo Llorens, V. (Universidad de Zaragoza) ; Pablo Júlvez, L.E. (Universidad de Zaragoza)

Resumen: 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. Methods We have performed a retrospective study over three groups of patients. The group with presenile 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. Results 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). Conclusions 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.

Idioma: Inglés

DOI: 10.1371/journal.pone.0156317

Año: 2016

Publicado en: PloS one 11, 6 (2016), e0156317 [12p]
ISSN: 1932-6203

Factor impacto JCR: 2.806 (2016)

Categ. JCR: MULTIDISCIPLINARY SCIENCES rank: 15 / 63 = 0.238 (2016) - Q1 - T1

Factor impacto SCIMAGO: 1.236 - Agricultural and Biological Sciences (miscellaneous) (Q1) - Medicine (miscellaneous) (Q1) - Biochemistry, Genetics and Molecular Biology (miscellaneous) (Q1)

Tipo y forma: Article (Published version)

Área (Departamento): Área Oftalmología (Dpto. Cirugía,Ginecol.Obstetr.)