Vitamin D Receptor Gene Polymorphisms and Breast Cancer Risk in Kazakhstan


 

 

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Vitamin D Receptor Gene 

Polymorphisms and Breast Cancer 

Risk in Kazakhstan 

 

Ainur Akilzhanova1, Zhannur 

Abilova1, Nurgul Sikhayeva2, Ivan 

Shtefanov3, Abay Makishev3, 

Tasbolat Adylkhanov4, Tolebay 

Rakhypbekov4, Zhaxybay 

Zhumadilov1, Kuvat Momynaliev2 

 
1Center for Life Sciences, Nazarbayev 

University, Astana, Kazakhstan; 
2National Center for Biotechnology, 

Almaty, Kazakhstan; 3Astana Medical 

University, Astana, Kazakhstan; 4Semey 

State Medical University, Semey, 

Kazakhstan 

 

Vol. 2, Suppl. (2013)   |   ISSN 2166-7403 (online)    

DOI 10.5195/cajgh.2013.95   |   http://cajgh.pitt.edu 

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AKILZHANOVA 

 

 

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of its D-Scribe Digital Publishing Program and is cosponsored by the University of Pittsburgh Press. 

 

Central Asian Journal of Global Health 

Volume 2, Suppl. (2013)  |  ISSN 2166-7403 (online)  |  DOI 10.5195/cajgh.2013.95  |  http://cajgh.pitt.edu 

  

 

Abstract 

Introduction: The steroid hormone 1,25-dihydroxyvitamin D3 is thought to protect against breast cancer. The activity of 1,25-

dihydroxyvitamin D3 is mediated via the vitamin D receptor (VDR), and a number of polymorphisms in the VDR gene have been 

identified. These result in distinct genotypes, some of which may alter susceptibility to breast cancer. Two common single 

nucleotide polymorphisms (SNP) in the VDR gene (VDR), rs1544410 (BsmI) and rs2228570 (FokI), have been inconsistently 

associated with breast cancer risk. Increased risk has been reported for the FokI ff genotype, which encodes a less 

transcriptionally active isoform of VDR. A reduced risk has been reported for the BsmI BB genotype which may influence VDR 

mRNA stability. 

Aim: We have investigated whether specific VDR gene polymorphisms are associated with breast cancer risk in Kazakhstan 

women. 

Material and Methods: In a case–control study, female breast cancer patients (315) and a female control group (n=604) were 

tested for two VDR polymorphisms. Statistical analysis was conducted using SPSS19.0. 

Results: The VDR rs2228570 (FokI) polymorphism was associated with an increased occurence of BC [rs2228570 (folk) ff vs. 

FF genotype: OR=1.71; 95% CI=1.21-2.43]. No association was noted between rs1544410 (BsmI) BB and breast cancer risk 

[OR=0.68; 95% CI=0.49-0.95].  

Conclusion: Although the factors that increase breast cancer susceptibility remain uncertain, future large studies should integrate 

genetic variation in VDR with biomarkers of vitamin D status. Additional testing on the effect of varying genotypes on the 

functional mechanisms of the VDR could help to improve future testing and treatment of woman at risk for breast cancer. 

Keywords: breast cancer, gene polymorphysm, vitamin D receptors, genetype suseptibility 

 

 

 

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