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. 2017 Nov 13;17(1):758.
doi: 10.1186/s12885-017-3762-y.

The association of polymorphic markers Arg399Gln of XRCC1 gene, Arg72Pro of TP53 gene and T309G of MDM2 gene with breast cancer in Kyrgyz females

Jainagul Isakova  1 , Elnura Talaibekova  2 , Nazira Aldasheva  2 , Denis Vinnikov  3 , Almaz Aldashev  2
Affiliations

The association of polymorphic markers Arg399Gln of XRCC1 gene, Arg72Pro of TP53 gene and T309G of MDM2 gene with breast cancer in Kyrgyz females

Jainagul Isakova et al. BMC Cancer. .

Abstract

Background: The association of genes XRCC1, TP53 and MDM2 with breast cancer (BC) has never been tested in Kyrgyz population. We, therefore, aimed to identify an association of alleles and genotypes of polymorphic markers Arg399Gln of gene XRCC1, Arg72Pro of gene TP53, and T309G of gene MDM2 with the risk of BC in Kyrgyz women.

Methods: This was a case-control study of 219 women of Kyrgyz origin with morphologically verified BC (N = 117) and 102 controls, age-matched with BC cases. The mean age of subjects in this study was 52.2 ± 10.8 years. We extracted DNA from the venous blood and genotyped polymorphic markers Arg399Gln of gene XRCC1, Arg72Pro of gene TP53 and T309G of gene MDM2 using polymerase chain reaction and the method of restriction fragment polymorphism.

Results: Allele 399Gln (OR 1.57; 95% CI 1.05-2.35), Arg399Gln of gene XRCC1 heterozygous genotype (OR 2.77; 95% CI 1.60-4.80), the combination of Arg399Gln/Arg72Pro of genes XRCC1/TP53 heterozygous genotype (OR 3.98; 95% CI 1.57-10.09), Arg399Gln/T309G of genes XRCC1/MDM2 (OR 3.0; 95% CI 1.18-7.56), as well as Arg399Gln/Arg72Pro/T309G of genes XRCC1/TP53/MDM2 (OR 6.40; 95% CI 1.18-34.63) were associated with BC in Kyrgyz women.

Conclusions: This is the first study to identify the inter-loci interaction and to find molecular markers of individual risk of BC in Kyrgyz women.

Keywords: Breast cancer; Kyrgyz population; MDM2; TP53; XRCC1.

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Conflict of interest statement

Ethics approval and consent to participate

The Institutional Review Board of the Scientific and Research Institute of Molecular Biology and Medicine in Bishkek (Protocol #1, January 14, 2015) approved the study protocol. Each patient signed an informed consent to participate.

Consent for publication

Each participant signed an informed consent, including an agreement to anonymously report results.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Electrophoretic separation of Arg399Gln polymorphic locus of XRCC1 gene in 3% agarose gel. М – molecular scales marker with 100 bp step. Arg/Gln genotype are fragments 615 + 374 + 241 bp wide; Gln/Gln genotype 615 bp wide; Arg/Arg genotype 374 + 241 bp wide
Fig. 2
Fig. 2
Arg72Pro polymorphic locus of Р53 gene genotypes identification in 3% agarose gel after processing with BstUI endonuclease. Pro/Pro is 199 bp long; Arg/Pro is 199 + 113 + 86 bp long; Arg/Arg is 113 + 86 bp long. М – molecular scales marker with 100 bp step
Fig. 3
Fig. 3
Electrophoretic separation of T309G polymorphic locus of MDM2 gene. DNA fragments with the length of 233, 187, 88, 46, and 31 bp corresponding to G allele; and 233, 88, and 31 bp for T allele. М is a marker of DNA molecular mass
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