Cent Eur J Public Health 2023, 31(1):25-29 | DOI: 10.21101/cejph.a7329

Evaluation of COLIA1 gene rs1107946 polymorphism in relation to bone mineral density and fracture risk in Slovak postmenopausal women

Iveta Boroňová, Matúš Mathia, Soňa Mačeková, Jarmila Bernasovská, Jana Gaľová
Department of Biology, Faculty of Humanities and Natural Sciences, University of Prešov, Prešov, Slovakia

Objectives: The aim of the study was the evaluation of the rs1107946 polymorphism of the COLIA1 gene impact on bone mineral density and fracture risk in Slovak postmenopausal women.

Methods: One hundred and twenty-seven postmenopausal Slovak women with a diagnosis of osteopenia/osteoporosis were genotyped for rs1107946 polymorphism of the COLIA1 gene. Clinical and anthropometric data were obtained. DNA isolation was performed using a standard protocol. Genetic analyses of the rs1107946 polymorphism of the COLIA1 gene were performed by the TaqMan SNP genotyping assays.

Results: The study confirmed a statistically significant relationship using an association analysis between the rs1107946 polymorphism of the COLIA1 gene genotypes and body weight of the Slovak postmenopausal women with osteopenia/osteoporosis (p = 0.03). The study revealed a significant association of the risk T allele of the rs1107946 polymorphism of the COLIA1 gene with osteoporotic fractures (p = 0.038). The odds ratio confirmed 2.060 times higher risk of osteoporotic fractures in Slovak postmenopausal women with the presence of risk T allele of the rs1107946 COLIA1 gene polymorphism (OR = 2.060; 95% CI: 1.024-4.144).

Conclusion: The results of this study revealed an association of T allele of the rs1107946 COLIA1 gene polymorphism with osteoporotic fractures in Slovak postmenopausal women with osteopenia/osteoporosis and suggest that the rs1107946 polymorphism of the COLIA1 gene may be a molecular biomarker usable in the management of osteoporosis.

Keywords: COLIA1 gene - rs1107946 polymorphism, osteoporosis, postmenopausal women, fracture risk

Received: February 8, 2022; Revised: March 1, 2023; Accepted: March 1, 2023; Published: March 31, 2023  Show citation

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Boroňová I, Mathia M, Mačeková S, Bernasovská J, Gaľová J. Evaluation of COLIA1 gene rs1107946 polymorphism in relation to bone mineral density and fracture risk in Slovak postmenopausal women. Cent Eur J Public Health. 2023;31(1):25-29. doi: 10.21101/cejph.a7329. PubMed PMID: 37086417.
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