Epistatic interaction of Arg72Pro TP53 and-710 C/T VEGFR1 polymorphisms in breast cancer: predisposition and survival

被引:10
作者
Rodrigues, Patricia [1 ]
Furriol, Jessica [1 ]
Tormo, Eduardo [1 ]
Ballester, Sandra [1 ]
Lluch, Ana [1 ,2 ]
Eroles, Pilar [1 ]
机构
[1] Inst Hlth Res INCLIVA, Valencia 46010, Spain
[2] Univ Hosp Valencia, Dept Haematol & Med Oncol, Valencia 46010, Spain
关键词
TP53; VEGFR1; Breast cancer; Polymorphisms; Epistatic; MULTIFACTOR-DIMENSIONALITY REDUCTION; GENE-GENE INTERACTIONS; INCREASED RISK; P53; POLYMORPHISMS; MDM2; SNP309; CODON-72; SUSCEPTIBILITY; ASSOCIATION; MUTATIONS; PREDICTS;
D O I
10.1007/s11010-013-1640-8
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
The tumour-suppressor gene TP53 has been associated with the angiogenic pathway by a TP53 response element sequence of the VEGFR1 promoter. Within that sequence, the polymorphism -710 C/T VEGFR1, which confers variable transcriptional activation by TP53, has been identified. Our group found an association between this polymorphism and breast cancer (BC) risk. We decided to investigate a possible epistatic interaction between this polymorphism and others located at gene TP53. We chose four polymorphisms (Ex4 + 119G > C, IVS4-91A > G, IVS6 + 62A > G and IVS7 + 92T > G) to analyse out of a total of 461 controls and 453 BC patients in a Spanish population. The two-locus combined analysis of TP53 and -710 C/T VEGFR1 polymorphisms was performed with the multifactor dimension reduction approach. Kaplan-Meier disease-free survival curves were calculated using the SPSS package. Carriers of at least one Pro allele of the Ex4 + 119G > C TP53 polymorphism presented a significant BC risk [OR = 1.34, (95 % CI 1.03-1.75), p value = 0.029]. The epistatic gene-gene analysis showed that the best two-locus model was the combination between Ex4 + 119G > C TP53 and -710 C/T VEGFR1 showing OR of 1.44 (95 % CI 1.10-1.88, p value = 0.0083). Moreover, the Pro/Pro genotypes of Ex4 + 119G > C were associated with poor disease-free survival (p value = 0.013). We conclude that the Ex4 + 119G > C TP53 polymorphism is an independent, low penetrance marker of BC risk in this population. In addition, our findings suggest that the combination of Ex4 + 119G > C TP53 and -710 C/T VEGFR1 genotypes confers a higher risk to develop BC. Also, a possible association of the Ex4 + 119G > C TP53 genotype with decreased disease-free survival in these patients is proposed.
引用
收藏
页码:181 / 190
页数:10
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