The importance of polymorphic variants of collagen 1A2 gene (COL1A2) in the development of osteopenia and osteoporosis in postmenopausal women

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 develop...

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Veröffentlicht in:Ginekologia polska 2017-01, Vol.88 (8), p.414-420
Hauptverfasser: Majchrzycki, Marian, Bartkowiak-Wieczorek, Joanna, Bogacz, Anna, Szyfter-Harris, Joanna, Wolski, Hubert, Klejewski, Andrzej, Goch, Maciej, Drews, Krzysztof, Barlik, Magdalena, Ożarowski, Marcin, Kamiński, Adam, Gryszczyńska, Agnieszka, Seremak-Mrozikiewicz, Agnieszka
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container_end_page 420
container_issue 8
container_start_page 414
container_title Ginekologia polska
container_volume 88
creator Majchrzycki, Marian
Bartkowiak-Wieczorek, Joanna
Bogacz, Anna
Szyfter-Harris, Joanna
Wolski, Hubert
Klejewski, Andrzej
Goch, Maciej
Drews, Krzysztof
Barlik, Magdalena
Ożarowski, Marcin
Kamiński, Adam
Gryszczyńska, Agnieszka
Seremak-Mrozikiewicz, Agnieszka
description 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 post-menopausal 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. 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. 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. 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.
doi_str_mv 10.5603/GP.A2017.0077
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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 post-menopausal 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. 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. 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. The analyzed COL1A2 polymorphisms seem to be related to osteoporosis development and their particular clinical parameters. 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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 post-menopausal 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. 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. 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. 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><cop>Poland</cop><pub>Wydawnictwo Via Medica</pub><pmid>28930368</pmid><doi>10.5603/GP.A2017.0077</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record>
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subjects Bone Diseases, Metabolic - genetics
Collagen
Collagen Type I - genetics
Female
Genetic Predisposition to Disease
Genotype
Genotype & phenotype
Humans
Middle Aged
Osteoporosis
Osteoporosis, Postmenopausal - genetics
Poland
Polymorphism
Polymorphism, Genetic
title The importance of polymorphic variants of collagen 1A2 gene (COL1A2) in the development of osteopenia and osteoporosis in postmenopausal women
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