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
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.
Ginekol Pol. 2017;88(8):414-420. doi: 10.5603/GP.a2017.0077.
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.
I型胶原蛋白在骨基质中起重要作用，由COL1A2（I型胶原蛋白α2）基因编码，该基因可能是骨质疏松性骨折的潜在候选基因。本研究的目的是确定COL1A2基因的EcoRI、Del38和PvuII多态性是否与绝经后波兰女性骨质疏松症和骨质减少的发生有关。此外，还对COL1A2基因多态性变体的频率与骨转换临床参数及骨质疏松程度之间的关系进行了分析。
研究组包括骨质疏松症女性（n = 90）、骨质减少女性（n = 56）和健康个体（n = 56）。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测COL1A2基因的EcoRI、Del38和PvuII多态性。
在骨质疏松症女性中，与其他基因型相比，EcoRI多态性的TT基因型Z评分最低（p = 0.034）。在Del28多态性方面，骨质减少女性中较低的体重指数（BMI）值与DD基因型之间存在统计学显著相关性（p = 0.041）。Del28多态性的多态性变体与骨质疏松症女性的临床参数之间无统计学显著相关性。PvuII多态性分析表明，在骨质减少女性中，与其他基因型相比，CC基因型体重最低（p = 0.039）。PvuII多态性与骨质疏松症女性组的临床参数无统计学显著相关性。
分析的COL1A2多态性似乎与骨质疏松症的发生及其特定临床参数有关。因此，COL1A2多态性可能是与骨质疏松症发生相关的遗传危险因素。
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