open access

Vol 88, No 8 (2017)
ORIGINAL PAPERS Gynecology
Published online: 2017-08-31
Get Citation

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

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
DOI: 10.5603/GP.a2017.0077
·
Pubmed: 28930368
·
Ginekol Pol 2017;88(8):414-420.

open access

Vol 88, No 8 (2017)
ORIGINAL PAPERS Gynecology
Published online: 2017-08-31

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.

Get Citation

Keywords

COL1A2, polymorphism, osteoporosis, osteopenia, genetic marker

About this article
Title

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

Journal

Ginekologia Polska

Issue

Vol 88, No 8 (2017)

Pages

414-420

Published online

2017-08-31

DOI

10.5603/GP.a2017.0077

Pubmed

28930368

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

References (27)
  1. Rivadeneira F, Mäkitie O. Osteoporosis and Bone Mass Disorders: From Gene Pathways to Treatments. Trends Endocrinol Metab. 2016; 27(5): 262–281.
  2. Karasik D, Rivadeneira F, Johnson ML, et al. The genetics of bone mass and susceptibility to bone diseases. Nat Rev Rheumatol. 2016; 12(6): 323–334.
  3. Saito M, Marumo K. Collagen cross-links as a determinant of bone quality: a possible explanation for bone fragility in aging, osteoporosis, and diabetes mellitus. Osteoporos Int. 2010; 21(2): 195–214.
  4. Wang X, Bank RA, TeKoppele JM, et al. The role of collagen in determining bone mechanical properties. J Orthop Res. 2001; 19(6): 1021–1026.
  5. Wang X, Shen X, Li X, et al. Age-related changes in the collagen network and toughness of bone. Bone. 2002; 31(1): 1–7.
  6. Majchrzycki M, Bartkowiak-Wieczorek J, Wolski H, et al. Polymorphisms of collagen 1A1 (COL1A1) gene and their relation to bone mineral density in postmenopausal women. Ginekol Pol. 2015; 86(12): 907–914.
  7. Tedeschi E, Antoniazzi F, Venturi G, et al. Osteogenesis imperfecta and its molecular diagnosis by determination of mutations of type I collagen genes. Pediatr Endocrinol Rev. 2006; 4(1): 40–46.
  8. Gajko-Galicka A. Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans. Acta Biochim Pol. 2002; 49(2): 433–441.
  9. Zofkova I, Nemcikova P, Kuklik M. Polymorphisms associated with low bone mass and high risk of atraumatic fracture. Physiol Res. 2015; 64(5): 621–631.
  10. Ferrari S. Human genetics of osteoporosis. Best Pract Res Clin Endocrinol Metab. 2008; 22(5): 723–735.
  11. Li Df, Wu W, Cai Xz, et al. [Relationship of collagen type I alpha 1 and alpha 2 gene polymorphisms with bone mineral density]. Nan Fang Yi Ke Da Xue Xue Bao. 2006; 26(7): 981–3, 990.
  12. Babalini C, Tarsi T, Martínez-Labarga C, et al. EcoRI, RsaI, and MspI RFLPs of the COL1A2 gene (type I collagen) in the Cayapa, a Native American population of Ecuador. Hum Biol. 1994; 66(6): 979–989.
  13. Pepe G, Rickards O, Jodice C, et al. Allele and haplotype frequency distribution of the EcoRI, RsaI, and MspI COL1A2 RFLPs among various human populations. Hum Biol. 1995; 67(6): 905–920.
  14. De Stefano GF, Martínez-Labarga C, Casalotti R, et al. Analysis of three RFLPs of the COL1A2 (Type I Collagen) in the Amhara and the Oromo of Ethiopia. Ann Hum Biol. 2002; 29(4): 432–441.
  15. Babalini C, Tarsi T, Martínez-Labarga C, et al. COL1A2 (type I collagen) polymorphisms in the Colorado Indians of Ecuador. Ann Hum Biol. 2005; 32(5): 666–678.
  16. Rickards O, Martínez-Labarga C, Trucchi E, et al. Restriction fragment length polymorphisms of type I collagen locus 2 (COL1A2) in two communities of African ancestry and other mixed populations of northwestern Ecuador. Hum Biol. 2005; 77(1): 115–123.
  17. Scorrano G, Lelli R, Martínez-Labarga C, et al. Variability and distribution of COL1A2 (type I collagen) polymorphisms in the central-eastern Mediterranean Basin. Ann Hum Biol. 2016; 43(1): 73–77.
  18. Kuivaniemi H, Tromp G, Chu ML, et al. Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation. Biochem J. 1988; 252(3): 633–640.
  19. Constantinou CD, Spotila LD, Zhuang J, et al. PvuII polymorphism at the COL1A2 locus. Nucleic Acids Res. 1990; 18(18): 5577.
  20. Godfrey KM, Barker DJ. Fetal nutrition and adult disease. Am J Clin Nutr. 2000; 71(5): 1344–1352.
  21. Holroyd C, Harvey N, Dennison E, et al. Epigenetic influences in the developmental origins of osteoporosis. Osteoporos Int. 2012; 23(2): 401–410.
  22. Pieńkowski W, Wolski H, Drews K, et al. [Fetal programming and the etiology of osteoporosis]. Ginekol Pol. 2015; 86(8): 622–625.
  23. Schlüssel MM, Vaz Jd, Kac G. Birth weight and adult bone mass: a systematic literature review. Osteoporos Int. 2010; 21(12): 1981–1991.
  24. Cavkaytar S, Seval MM, Atak Z, et al. Effect of reproductive history, lactation, first pregnancy age and dietary habits on bone mineral density in natural postmenopausal women. Aging Clin Exp Res. 2015; 27(5): 689–694.
  25. Suuriniemi M, Mahonen A, Kovanen V, et al. Relation of PvuII site polymorphism in the COL1A2 gene to the risk of fractures in prepubertal Finnish girls. Physiol Genomics. 2003; 14(3): 217–224.
  26. Santovito A, Burgarello C, Cervella P, et al. COL1A2 gene deletion polymorphism in an Italian and an Ivorian populations. Genetika. 2009; 45(7): 977–981.
  27. Zhu Z, Jiang Y, Chen S, et al. An insertion/deletion polymorphism in the 3' untranslated region of type I collagen a2 (COL1A2) is associated with susceptibility for hepatocellular carcinoma in a Chinese population. Cancer Genet. 2011; 204(5): 265–269.

Important: This website uses cookies. More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

By "Via Medica sp. z o.o." sp.k., ul. Świętokrzyska 73, 80–180 Gdańsk
tel.:+48 58 320 94 94, faks:+48 58 320 94 60, e-mail:  viamedica@viamedica.pl