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The importance of polymorphic variants of collagen 1A2 gene (COL1A2) in the development of osteopenia and osteoporosis in postmenopausal women
Affiliations- Department of Rheumatology and Rehabilitation, Poznan University of Medical Sciences, Poznan, Poland
- Laboratory of Experimental Pharmacogenetics, Department of Clinical Pharmacy and Biopharmacy, University of Medical Sciences, Poznan, Poland
- Department of Stem Cells and Regenerative Medicine, Institute of Natural Fibres and Medicinal Plants, Poznan, Poland
- Department of Histocompatibility with Laboratory of Genetic Diagnostics, Regional Blood Center, Poznan, Poland
- Department of Dermatology, Poznan University of Medical Sciences, Poznan, Poland
- Division of Gynecology and Obstetrics, Podhale Multidisciplinary Hospital, Nowy Targ, Poland
- Division of Perinatology and Women's Diseases, Poznan University of Medical Sciences, Poznan, Poland
- Department of Nursing, Poznan University of Medical Sciences, Poznan, Poland
- Department of Obstetrics and Women’s Diseases, Poznan University of Medical Sciences, Poznan, Poland
- Department of Orthopedics and Traumathology, Poznan University of Medical Sciences, Poznan, Poland
- Division of Perinatology and Women's Diseases, Poznan University of Medical Sciences; Laboratory of Molecular Biology in Division of Perinatology and Women's Diseases, Poznan, Poland
- Department of Pharmacology and Phytochemistry, Institute of Natural Fibers and Medicinal Plants, Poznan, Poland
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Abstract
Objectives: Collagen type I plays an important role in the bone matrix and is encoded by COL1A2 (collagen type I alpha 2) gene that may be a potential candidate for osteoporotic fracture. The aim of this study is to determine whether EcoRI, Del38 and PvuII polymorphisms of COL1A2 are associated with the development of osteoporosis and osteopenia in postmenopausal Polish women. Moreover, analysis of relationship between frequency of COL1A2 gene polymorphic variants and clinical parameters of bone turnover and degree of osteoporosis was performed.
Material and methods: The study group comprised of women with osteoporosis (n = 90), osteopenia (n = 56) and healthy individuals (n = 56). The EcoRI, Del38 and PvuII polymorphisms in COL1A2 gene were detected by PCR-RFLP method.
Results: In women with osteoporosis the TT genotype of EcoRI polymorphism had the lowest Z-score value compared to other genotypes (p = 0.034). In case of Del28 polymorphism, there was a statistically significant correlation between lower BMI values and the DD genotype in women with osteopenia (p = 0.041). There was no statistically significant correlation between polymorphic variants of Del28 polymorphism and clinical parameters of women with osteoporosis. The analysis of PvuII polymorphism showed that in women with osteopenia the CC genotype had the lowest body weight compared to other genotypes (p = 0.039). PvuII polymorphism and clinical parameters in the group of women with osteoporosis had no statistically significant correlations.
Conclusions: The analyzed COL1A2 polymorphisms seem to be related to osteoporosis development and their particular clinical parameters. Hence, the COL1A2 polymorphism may be a genetic risk factor related to the development of osteoporosis.
Abstract
Objectives: Collagen type I plays an important role in the bone matrix and is encoded by COL1A2 (collagen type I alpha 2) gene that may be a potential candidate for osteoporotic fracture. The aim of this study is to determine whether EcoRI, Del38 and PvuII polymorphisms of COL1A2 are associated with the development of osteoporosis and osteopenia in postmenopausal Polish women. Moreover, analysis of relationship between frequency of COL1A2 gene polymorphic variants and clinical parameters of bone turnover and degree of osteoporosis was performed.
Material and methods: The study group comprised of women with osteoporosis (n = 90), osteopenia (n = 56) and healthy individuals (n = 56). The EcoRI, Del38 and PvuII polymorphisms in COL1A2 gene were detected by PCR-RFLP method.
Results: In women with osteoporosis the TT genotype of EcoRI polymorphism had the lowest Z-score value compared to other genotypes (p = 0.034). In case of Del28 polymorphism, there was a statistically significant correlation between lower BMI values and the DD genotype in women with osteopenia (p = 0.041). There was no statistically significant correlation between polymorphic variants of Del28 polymorphism and clinical parameters of women with osteoporosis. The analysis of PvuII polymorphism showed that in women with osteopenia the CC genotype had the lowest body weight compared to other genotypes (p = 0.039). PvuII polymorphism and clinical parameters in the group of women with osteoporosis had no statistically significant correlations.
Conclusions: The analyzed COL1A2 polymorphisms seem to be related to osteoporosis development and their particular clinical parameters. Hence, the COL1A2 polymorphism may be a genetic risk factor related to the development of osteoporosis.
Keywords
COL1A2, polymorphism, osteoporosis, osteopenia, genetic marker
About this articleTitle
The importance of polymorphic variants of collagen 1A2 gene (COL1A2) in the development of osteopenia and osteoporosis in postmenopausal women
Journal
Issue
Article type
Research paper
Pages
414-420
Published online
2017-08-31
Page views
1759
Article views/downloads
1144
DOI
Pubmed
Bibliographic record
Ginekol Pol 2017;88(8):414-420.
Keywords
COL1A2
polymorphism
osteoporosis
osteopenia
genetic marker
Authors
Marian Majchrzycki
Joanna Bartkowiak-Wieczorek
Anna Bogacz
Joanna Szyfter-Harris
Hubert Wolski
Andrzej Klejewski
Maciej Goch
Krzysztof Drews
Magdalena Barlik
Marcin Ożarowski
Adam Kamiński
Agnieszka Gryszczyńska
Agnieszka Seremak-Mrozikiewicz
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