Association of Sp1 Collagen Type Iα1 Gene Polymorphisms with Bone Mineral Density in Bulgarian Women Referred for Bone Densitometry

• Main Authors: Andon K. Toshev, Mihail A. Boyanov, Jivka T. Ivanova, Plamen R. Popivanov
• Format: Article
• Language: English
• Published: Turkiye Klinikleri 2011-09-01
• Series: Turkish Journal of Endocrinology and Metabolism
• Subjects: Bone mineral density; collagen type Iα1; osteoporosis; polymorphisms
• Online Access: http://www.turkjem.org/eng/makale/758/72/Full-Text

Objectives: To investigate the association between bone mineral density (BMD) and collagen type Iα1 (COLIA1) gene polymorphisms in a case-control study.Materials and Methods: 400 unrelated postmenopausal Bulgarian women participated - 180 with normal BMD and 220 with low BMD. BMD was measured at the forearm, lumbar spine and femoral neck by X-ray absorptiometry. A PCR product of 261 bp was digested and electrophoresed. The prevalence of S and s alleles as well as the different genotypes was determined. All analyses were tested for statistical significance (c2-test).Results: 408 s and 392 S alleles were found. Of the 220 women with low BMD, 20 had the SS genotype, 94 – the Ss genotype, and 106 – the ss genotype. Among the 180 controls with normal BMD, 93 had the SS genotype, 76 - the Ss, and 11 – the ss genotype. The SS genotype was associated with higher BMD and the ss – with lower BMD at all sites. The odds ratio for low BMD in the presence of the ss genotype was 10.69.Conclusion: In our study sample, the COLIA1 polymorphism was associated with low BMD. This particular genetic polymorphism may become a useful genetic screening tool for osteoporosis. Türk Jem 2011; 15: 66-70