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Vitamin D Receptor Gene 

Polymorphisms in Susceptibility to 

Tuberculosis in the Kazakh 

Population in Almaty and Almaty 

Area 

 

Maxat Zhabagin1, Zhannur 

Abilova1, Ayken Askapuli1, Saule 

Rakhimova1, Ulykbek Kairov1, 

Kulzhan Berikkhanova1, Assel 

Terlikbayeva2, Meruert 

Darisheva2, Arike Alenova3, Ainur 

Akilzhanova1 

 
1Center for Life Sciences, Nazarbayev 

University, Astana, Kazakhstan; 2The 

Global Health Research Center of Central 

Asia, Almaty, Kazakhstan; 3National 

Center for Tuberculosis Problems, 

Almaty, Kazakhstan

 

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

DOI 10.5195/cajgh.2013.102   |   http://cajgh.pitt.edu 

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ZHABAGIN 

 

 

This work is licensed under a Creative Commons Attribution 3.0 United States License. 

 

This journal is published by the University Library System of the University of Pittsburgh as part  

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.2013.102  |  http://cajgh.pitt.edu 

  

 

Abstract 

Introduction: Vitamin D receptor (VDR) plays an important role in activating the immune response against various infectious 

agents. It is known that the active metabolite of ligand receptor Vitamin D (1,25 – dihydroxyvitamin D) is encoded by VDR and 

helps mononuclear phagocytes to suppress the intracellular growth of M. tuberculosis. The VDR gene harbors approximately 200 

polymorphisms, some of which are linked to differences in receptor Vitamin D uptake and therefore can be considered as 

candidate disease risk variants. The relation between VDR gene polymorphisms and susceptibility to TB has been studied in 

different populations. There is not a great deal of information regarding the association of these SNPs with TB risk in the Kazakh 

population. The four most commonly investigated VDR polymorphisms in association with different diseases, including 

susceptibility to tuberculosis, are located in exon 2 (rs2228570 or FokI), intron 8 (rs1544410 or BsmI and rs7975232 or ApaI), 

and exon 9 (rs731236 or TaqI). The aim of our study was to determine whether these four VDR gene single nucleotide 

polymorphisms were associated with TB and whether they were a risk for the development of TB in the Kazakh Population in 

Almaty city and Almaty area.  

 

Methods: This study was a hospital-based case-control analysis of 283 individuals (99 TB patients and 184 healthy controls). 

Genotyping was performed by Taqman SNP allelic discrimination using commercial TaqMan SNP Genotyping assays.  

Statistical analysis was conducted using SPSS Version 19.0 software. 

 

Results: Genotype frequencies for the Kazakh population are close to world (HapMap) data on Asian populations. FokI and ApaI 

polymorphisms genotypes tend to be associated with TB risk under the co-dominant model [OR=1.18; 95%CI: (0.68, 2.07), 

p=0.15] for FokI and [OR=1.33; 95%CI: (0.61, 2.91), p=0.6] for ApaI. No significant association between the disease and TaqI, 

BsmI genotypes was observed. 

 

Conclusions: In summary, we explored potential associations between SNPs in the VDR (FokI, ApaI) gene and susceptibility to 

tuberculosis in the Kazakh Population, which requires further detailed analysis with a larger sample size and greater geographic 

diversity including other regions of Kazakhstan. 

Keywords: vitamin D receptors, immune response, tuberculosis, gene polymorphism, Kazakhstan 

 

 

 

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