@article{Akilzhanova_Abilova_Sikhayeva_Shtefanov_Makishev_Adylkhanov_Rakhypbekov_Zhumadilov_Momynaliev_2014, title={Vitamin D Receptor Gene Polymorphisms and Breast Cancer Risk in Kazakhstan}, volume={2}, url={http://cajgh.pitt.edu/ojs/cajgh/article/view/95}, DOI={10.5195/cajgh.2013.95}, abstractNote={<div><p class="AbstractParagraphs"><strong>Introduction:</strong> 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 <em>VDR </em>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 <em>VDR</em> gene (<em>VDR</em>), 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 <em>VDR</em>. A reduced risk has been reported for the BsmI BB genotype which may influence VDR mRNA stability.</p><p class="AbstractParagraphs"><strong>Aim</strong>: We have investigated whether specific <em>VDR </em>gene polymorphisms are associated with breast cancer risk in Kazakhstan women.</p><p class="AbstractParagraphs"><strong>Material and Methods:</strong><em> </em>In a case–control study, female breast cancer patients (<em>315</em>) and a female control group (<em>n=604</em>) were tested for two <em>VDR </em>polymorphisms. Statistical analysis was conducted using SPSS19.0.</p><p class="AbstractParagraphs"><strong>Results</strong><em>: </em>The <em>VDR</em> 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].</p><p class="AbstractParagraphs"><strong>Conclusion</strong><em>:</em> 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 <em>VDR</em> could help to improve future testing and treatment of woman at risk for breast cancer.</p></div>}, journal={Central Asian Journal of Global Health}, author={Akilzhanova, Ainur and Abilova, Zhannur and Sikhayeva, Nurgul and Shtefanov, Ivan and Makishev, Abay and Adylkhanov, Tasbolat and Rakhypbekov, Tolebay and Zhumadilov, Zhaxybay and Momynaliev, Kuvat}, year={2014}, month={Jan.} }