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Estrogen Receptor Gene (ESR1) 

PVUII and XBAI Polymorphisms 

and Bone Mineral Density in 

Kazakh Women 

 

Ainur Akilzhanova1, Zhannur 

Abilova1, Akbota Aitkulova2, Zaida 

Zhumatova3, Gulbanu 

Akilzhanova4, Elena 

Zholdybayeva2, Kuvat 

Momynaliev2 

 
1Center for Life Sciences, Nazarbayev 

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

Almaty, Kazakhstan; 3City Hospital #1, 

Pavlodar, Kazakhstan; 4Regional 

Perinatal Center, Pavlodar, Kazakhstan

 

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

DOI 10.5195/cajgh.2013.100   |   http://cajgh.pitt.edu 

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AKILZHANOVA 

 

 

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.2013.100  |  http://cajgh.pitt.edu 

  

 

Abstract 

Introduction: Osteoporosis is a common age-related disease that is strongly influenced by genetics. Polymorphisms of the 

estrogen receptor gene alpha (ESR1) are consistently been associated with bone mineral density (BMD) and fracture.  

The purpose of this investigation was to evaluate potential association of single nucleotide polymorphism (SNP) variants of the 

ESR1 gene and bone mineral density (BMD) of the lumbar spine in Kazakh women.  

Methods: 140 female participants in Pavlodar clinics with varying measures of BMD. We are examined the potential association 

of BMD with 2 SNPs from the ESR1 gene (rs2234693 [PvuII] and rs9340799 [XbaI]). Genotyping of the PvuII and XbaI 

polymorphisms was performed by direct sequencing of the gene fragments containing restriction sites with the identification of 

genotypes PP, Pp, pp and XX, Xx, xx respectively. 

Results: Unadjusted mean BMD values ranged from 1.140.14 g/cm2 in Caucasian women and 1.030.11 g/cm2 in Asian 

women. The association between PvuII polymorphism and BMD at the lumbar spine (p= 0.04 for PP=Pp=pp) was statistically 

significant in all women. The XbaI polymorphism was not associated with BMD at lumbar spine. The relative risk for low BMD 

was higher for the marker PvuII (RR=1.51) than for the marker XbaI (RR=1.35).  

Conclusion: The PvuII polymorphism had a weak association with lumbar spine BMD.  XbaI polymorphism was unlikely to be a 

predictor of lumbar spine BMD in Kazakh women. These conclusions could help to determine the genetic risk factors for 

osteoporosis; however, further studies on the association between gene polymorphisms and BMD are needed including larger 

numbers of participants and genes to clarify genetic risks. 

Keywords: osteoporosis, bone mineral density, genetic risk factors, Kazakhstan 

 

 

 

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