Gene promoter polymorphism of RUNX2 and risk of osteoporosis in postmenopausal Indonesian women.pdf (660.37 kB)

Gene promoter polymorphism of RUNX2 and risk of osteoporosis in postmenopausal Indonesian women

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posted on 30.06.2017 by Elza I. Auerkari, Dwi A. Suryandari, Sri S. Umami, Lindawati S. Kusdhany, Tut Wuri A. Siregar, T.B. Rahardjo, Christopher Talbot, Eef Hogervorst
Objectives: Osteoporosis is a metabolic bone disease of reduced bone mass density (BMD) and elevated risk of fracture due to an imbalance in bone formation and resorption. The risk and incidence of osteoporosis increase towards advanced age, particularly in postmenopausal women, and the risk is known to be affected by the variation in the expression of the associated regulatory genes. This work aimed to clarify the impact of variation in RUNX2 (runt domain transcription factor 2), which is an osteoblast-specific transcription factor that normally stimulates bone formation and osteoblast differentiation, regarding single-nucleotide polymorphism within RUNX2 promoter (P1) and risk of osteoporosis in postmenopausal Indonesian women. Methods: Using DNA sampling from blood, the variation at the single-nucleotide polymorphism (-330, G → T, rs59983488) at the RUNX2 P1 promoter was investigated using polymerase chain reaction–restriction fragment length polymorphism for 180 consenting postmenopausal Indonesian women. The subjects were examined for bone mass density and classification to normal and those with osteopenia or osteoporosis by T-scoring with dual-energy X-ray absorptiometry. Chi-square testing and logistic regression were mainly used for statistical assessment. Results: The results showed a general trend with increased risk of osteoporosis associated with the genotype TT (mutant type) and the corresponding T allele of the tested polymorphism of RUNX2 promoter P1. The trend was, however, not significant in multivariate testing adjusted for age and time after menopause. Conclusion: To confirm the potential risk with TT genotype would require testing of a much larger sample of subjects. As the tested single-nucleotide polymorphism only represents one of the relevant candidate locations of RUNX2, the results are taken nevertheless to suggest an impact by overall RUNX2 variation in the risk of osteoporosis in Indonesian postmenopausal women.

Funding

The authors acknowledge the financial support by the Directorate General of Higher Education, Ministry of Education and Culture of The Republic of Indonesia through Directorate Research and Public Services, University of Indonesia.

History

School

  • Sport, Exercise and Health Sciences

Published in

SAGE Open Medicine

Volume

2

Pages

205031211453157 - 205031211453157

Citation

AUERKARI, E.I. ...et al., 2014. Gene promoter polymorphism of RUNX2 and risk of osteoporosis in postmenopausal Indonesian women. SAGE Open Medicine, 2: 205031211453157 .

Publisher

© The authors. Published by SAGE Journals

Version

VoR (Version of Record)

Publisher statement

This work is made available according to the conditions of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) licence. Full details of this licence are available at: https://creativecommons.org/licenses/by-nc-nd/4.0/

Publication date

2014

Notes

This is an Open Access Article. It is published by Sage under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 Unported Licence (CC BY-NC-ND). Full details of this licence are available at: http://creativecommons.org/licenses/by-nc-nd/4.0/

ISSN

2050-3121

eISSN

2050-3121

Language

en

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