Association between XRCC1 ARG399GLN, TP53 ARG72PRO and MDM2 T309G polymorphisms and the risk of breast cancer in women of the Kyrgyz population


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Aim. To study an association between Arg399Gln of XRCC1 gene, Arg72Pro of TP53 gene and T309G of MDM2 gene polymorphisms and breast cancer (BC) rate in women of the Kyrgyz population Material and Methods. Genomic DNA was obtainedfrom the whole blood of 117 breast cancer patients and 102 cancer-free healthy women residing in the Kyrgyz Republic. XRCC1 (Arg399Gln), TP53(Arg72Pro) and MDM2 (T309G) genotyping was carried out by restriction fragment length polymorphism (RFLP) assay. Results. Women with the 399Gln allele had 1,57 fold higher risk (OR=1,57; p=0,034) of developing breast cancer than cases without these alleles. Individuals carrying the heterozygous genotype Arg399Gln had 2,77 fold higher risk (OR=2,77; p=0,0010) of BC. Notably, haplotype analyses revealed a stronger association with breast cancer risk if compare with data of the genotype analysis at each locus alone. The combination of heterozygous XRCC1 (Arg399Gln) variant and TP53 (Arg72Pro) genes increased even more the risk of BC (OR=3,98; p=0,0059). The combination of Arg399Gln and T309G genotypes of - XRCC1 and MDM2 genes is significant association with risk of BC (OR=3,0; p=0,034). We showed the combinations of Arg399Gln, Arg72Pro and T309Ggenotypes of-XRCC1, TP53 andMDM2 genes is related to the strong association with risk of BC in Kyrgyz women (OR=6,40; p=0,025). Conclusion. The polymorphisms Arg399Gln of XRCC1 gene, Arg72Pro of TP53 gene and T309G of MDM2 gene are associated with an increased risk of BC in Kyrgyz females. Combinations of unfavorable genotypes of several candidate genes increase even more the risk of BC.

作者简介

Jainagul Isakova

Institute of Molecular Biology and Medicine

Email: jainagul@mail.ru
MD, Phd, DSc, Head of the Laboratory of molecular diagnostics Bishkek, 720040, Kyrgyz Republic

E. Talaibekova

Institute of Molecular Biology and Medicine

Bishkek, 720040, Kyrgyz Republic

K. Makieva

National Center of Oncology

Bishkek, 720000, Kyrgyz Republic

D. Asambaeva

Institute of Molecular Biology and Medicine

Bishkek, 720040, Kyrgyz Republic

B. Sultangazieva

National Center of Oncology

Bishkek, 720000, Kyrgyz Republic

A. Aldashev

Institute of Molecular Biology and Medicine

Bishkek, 720040, Kyrgyz Republic

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