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The RANKL/RANK/OPG signal trail: significance of genetic polymorphisms in the etiology of postmenopausal osteoporosis
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Abstract
Objectives: Recent studies have demonstrated that disorders of bone metabolism, which is regulated by RANK/RANKL/OPG signaling pathway, are the cause of osteoporosis. The aim of the study was to investigate the distribution of genotypes of the RANK 575C>T and RANKL –643C>T polymorphisms and to analyze their relationship with bone parameters in postmenopausal women.
Material and methods: A total of 310 postmenopausal Caucasian women (139 with osteoporosis, 107 with osteopenia, and 64 healthy postmenopausal controls) were included. Bone mineral density (BMD) at the lumbar region of the spine (L2–L4) was measured by dual energy X-ray absorptiometry (DXA). Genetic analysis was performed using the PCR-RFLP method.
Results: Analysis of the frequency of genotypes and alleles of the RANK 575C>T and RANKL –643C>T polymorphisms did not show any statistically significant differences between the study groups (osteoporosis and osteopenia) and postmenopausal women with normal t-score value (ns). Notably, a significant association between the RANKL –643C>T polymorphism and body mass, such as BMI values in osteoporotic women (p<0.05), was observed.
Conclusions: Our results suggest lack of association between the 575C>T RANK polymorphism and the development of osteoporosis. The –643C>T RANKL polymorphism, through its significant influence on body weight and BMI value, may contribute to the development of osteoporosis in postmenopausal women.
Abstract
Objectives: Recent studies have demonstrated that disorders of bone metabolism, which is regulated by RANK/RANKL/OPG signaling pathway, are the cause of osteoporosis. The aim of the study was to investigate the distribution of genotypes of the RANK 575C>T and RANKL –643C>T polymorphisms and to analyze their relationship with bone parameters in postmenopausal women.
Material and methods: A total of 310 postmenopausal Caucasian women (139 with osteoporosis, 107 with osteopenia, and 64 healthy postmenopausal controls) were included. Bone mineral density (BMD) at the lumbar region of the spine (L2–L4) was measured by dual energy X-ray absorptiometry (DXA). Genetic analysis was performed using the PCR-RFLP method.
Results: Analysis of the frequency of genotypes and alleles of the RANK 575C>T and RANKL –643C>T polymorphisms did not show any statistically significant differences between the study groups (osteoporosis and osteopenia) and postmenopausal women with normal t-score value (ns). Notably, a significant association between the RANKL –643C>T polymorphism and body mass, such as BMI values in osteoporotic women (p<0.05), was observed.
Conclusions: Our results suggest lack of association between the 575C>T RANK polymorphism and the development of osteoporosis. The –643C>T RANKL polymorphism, through its significant influence on body weight and BMI value, may contribute to the development of osteoporosis in postmenopausal women.
Keywords
osteoporosis, RANKL/RANK/OPG signaling trail, genetic polymorphism
About this articleTitle
The RANKL/RANK/OPG signal trail: significance of genetic polymorphisms in the etiology of postmenopausal osteoporosis
Journal
Issue
Article type
Research paper
Pages
347-352
Published online
2016-06-02
Page views
5699
Article views/downloads
2156
DOI
Pubmed
Bibliographic record
Ginekol Pol 2016;87(5):347-352.
Keywords
osteoporosis
RANKL/RANK/OPG signaling trail
genetic polymorphism
Authors
Hubert Wolski
Krzysztof Drews
Anna Bogacz
Adam Kamiński
Magdalena Barlik
Joanna Bartkowiak-Wieczorek
Andrzej Klejewski
Marcin Ożarowski
Marian Majchrzycki
Agnieszka Seremak-Mrozikiewicz
