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Collagen Type I alpha1 (COL1A1) 

Gene Polymorphism and Bone 

Mineral Density in 

Postmenopausal Kazakh Women 

 

Akbota Aitkulova1, Ainur 

Akilzhanova2, Zhannur Abilova2, 

Zaida Zhumatova3, Gulbanu 

Akilzhanova4, Elena 

Zholdybayeva1 

 
1National Center for Biotechnology, 
Astana, Kazakhstan; 2Center for Life 
Sciences, Nazarbayev University, Astana, 
Kazakhstan; 3City Hospital #1, Pavlodar, 
Kazakhstan; 4Center for Perinatology, 
Pavlodar, Kazakhstan 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 
 

 

 

Vol. 3, Suppl. (2014)   |   ISSN 2166-7403 (online)    

DOI 10.5195/cajgh.2014.144   |   http://cajgh.pitt.edu  

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AITKULOVA 

 

 

This work is licensed under a Creative Commons Attribution 4.0 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 3, Suppl. (2014)  |  ISSN 2166-7403 (online)  |  DOI 10.5195/cajgh.2014.144  |  http://cajgh.pitt.edu 

  

 

Abstract 

Introduction: Single nucleotide polymorphism (SNP) at the collagen type I alpha 1 gene (COL1A1) rs1800012 has been widely 

studied and has shown an association with bone mineral density (BMD) and fractures. A minor allele TT of this SNP was found to 

be greatly overrepresented in individuals with fractures compared to controls, thus becoming a good predictor of  increased fracture 

risk. The aim of this investigation was to evaluate potential association between COL1A1 gene polymorphism and osteoporosis in 

Kazakh postmenopausal women. 

Methods: The study population included 103 postmenopausal women recruited from Pavlodar and Almaty clinics. BMD was 

measured using DEXA. Genomic DNA was extracted from peripheral venous blood of study participants with Wizard® Genomic 

DNA Purification Kit (Promega, USA). Detection of COL1A1 +1245G/T (Sp1) polymorphism was done by the TaqMan® SNP 

Genotyping Assay of real-time PCR. 

Results: Densitometry results revealed 36 osteoporotic, 42 osteopenic, and 25 normal postmenopausal women. Data analysis of 

1245G>T polymorphism in COL1A1 gene in the group of women with osteopenia and osteoporosis revealed deviation from Hardy-

Weinberg equilibrium. The mutant TT genotype was prevalent compared to the heterozygous genotype GT in both groups. 

Distributions were 83% GG, 3% GT, and 14% TT in the group with osteopenia and 80% GG, 6% GT, and 14% TT in the group 

with osteoporosis. The distribution of genotypes frequency in the group of normal postmenopausal women was 76% GG, 16% GT, 

and 8% TT. 

Conclusion: These results suggest that TT genotype of COL1A1 +1245G/T (Sp1) polymorphism is associated with risk of 

postmenopausal osteoporosis in Kazakh women. Further studies involving a larger number of women are needed to clarify the 

relationship of this polymorphism with risk of osteoporosis. 

Keywords: osteoporosis, bone mineral density, gene polymorphism 

 

 

 

http://www.library.pitt.edu/
http://www.pitt.edu/
http://www.library.pitt.edu/articles/digpubtype/index.html
http://www.upress.pitt.edu/upressIndex.aspx
https://www.promega.com/resources/protocols/technical-manuals/0/wizard-genomic-dna-purification-kit-protocol/
https://www.promega.com/resources/protocols/technical-manuals/0/wizard-genomic-dna-purification-kit-protocol/
http://www.lifetechnologies.com/kz/en/home/life-science/pcr/real-time-pcr/real-time-pcr-assays/snp-genotyping-taqman-assays/single-tube-snp-genotyping.html?ICID=search-product
http://www.lifetechnologies.com/kz/en/home/life-science/pcr/real-time-pcr/real-time-pcr-assays/snp-genotyping-taqman-assays/single-tube-snp-genotyping.html?ICID=search-product