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

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 know...

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Main Authors: Elza I. Auerkari, Dwi A. Suryandari, Sri S. Umami, Lindawati S. Kusdhany, Tut Wuri A. Siregar, T.B. Rahardjo, Christopher Talbot, Eef Hogervorst
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Published: 2014
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Online Access:https://hdl.handle.net/2134/25632
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author Elza I. Auerkari
Dwi A. Suryandari
Sri S. Umami
Lindawati S. Kusdhany
Tut Wuri A. Siregar
T.B. Rahardjo
Christopher Talbot
Eef Hogervorst
author_facet Elza I. Auerkari
Dwi A. Suryandari
Sri S. Umami
Lindawati S. Kusdhany
Tut Wuri A. Siregar
T.B. Rahardjo
Christopher Talbot
Eef Hogervorst
author_sort Elza I. Auerkari (7241840)
collection Figshare
description 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.
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institution Loughborough University
publishDate 2014
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spelling rr-article-96175372014-01-01T00:00:00Z Gene promoter polymorphism of RUNX2 and risk of osteoporosis in postmenopausal Indonesian women Elza I. Auerkari (7241840) Dwi A. Suryandari (7241843) Sri S. Umami (7241846) Lindawati S. Kusdhany (7241849) Tut Wuri A. Siregar (7241852) T.B. Rahardjo (7240118) Christopher Talbot (7241855) Eef Hogervorst (1255878) Other health sciences not elsewhere classified Menopause Osteoporosis RUNX2 Polymorphism Medical and Health Sciences not elsewhere classified 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. 2014-01-01T00:00:00Z Text Journal contribution 2134/25632 https://figshare.com/articles/journal_contribution/Gene_promoter_polymorphism_of_RUNX2_and_risk_of_osteoporosis_in_postmenopausal_Indonesian_women/9617537 CC BY-NC-ND 4.0
spellingShingle Other health sciences not elsewhere classified
Menopause
Osteoporosis
RUNX2
Polymorphism
Medical and Health Sciences not elsewhere classified
Elza I. Auerkari
Dwi A. Suryandari
Sri S. Umami
Lindawati S. Kusdhany
Tut Wuri A. Siregar
T.B. Rahardjo
Christopher Talbot
Eef Hogervorst
Gene promoter polymorphism of RUNX2 and risk of osteoporosis in postmenopausal Indonesian women
title Gene promoter polymorphism of RUNX2 and risk of osteoporosis in postmenopausal Indonesian women
title_full Gene promoter polymorphism of RUNX2 and risk of osteoporosis in postmenopausal Indonesian women
title_fullStr Gene promoter polymorphism of RUNX2 and risk of osteoporosis in postmenopausal Indonesian women
title_full_unstemmed Gene promoter polymorphism of RUNX2 and risk of osteoporosis in postmenopausal Indonesian women
title_short Gene promoter polymorphism of RUNX2 and risk of osteoporosis in postmenopausal Indonesian women
title_sort gene promoter polymorphism of runx2 and risk of osteoporosis in postmenopausal indonesian women
topic Other health sciences not elsewhere classified
Menopause
Osteoporosis
RUNX2
Polymorphism
Medical and Health Sciences not elsewhere classified
url https://hdl.handle.net/2134/25632