The genetic mutations causing osteoporosis disease can be examined in our Center. The following polymorphisms can be determined within this scope.

• Collagen Type I (COL1A1-SPI polymorphism)
• Vitamin D Receptor (VDRB-BSMI and VDR-FOKI polymorphisms)
• Estrogen Receptor (ESR1X-XBAI and ESR1P-PVUII polymorphisms)
• Calcitonin Receptor (CTR-ALUI polymorphism)

SNPs-BONE METOBOLISM

Relation between variant alleles and symptoms of osteoporosis. HRT (hormone replacement therapy), HDL (high density lipoprotein). Bibliography references are mentioned in the diagnostic sensitivity section.

REFERENCES

1. Effectiveness of alendronate treatment in postmenopausal women with osteoporosis: relationship with BsmL vitamin D receptor genotypes. Palomba et al. Clinical Endocrinology (2003) 58, 365-371.

2. Raloxifene administration in post-menopausal women with osteoporosis: effect of different BsmL vitamin receptor genotypes. Palomba et al. Human Reproduction (2003) 18,1, 192-198.

3. Prediction of bone density from vitamin D receptor alleles. Morrison et al. Nature (1994) 284-287.

4. Vitamin D receptor D polymorphism and change in lumbar spine bone mineral density. Ferrari et al. Lancet (1995) 345:423-424.

5. The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women. Coleman et al. Journal of Bone and Mineral Research (1996) 11, 12, 1850-1855.

6. Meta-Analysis of Col1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture. Mann V., Ralston SH. Bone (2003). 32 (6):711-717.

7. Association of bone mineral density with polymorphism of the estrogen receptor gene. Kobayashi et al. Journal of bone and mineral research (1996) 11 (3): 306-311.

8. Early postmenopausal bone loss is associated with PvuII estrogen receptor gene polymorphism in Finnish women: effect of hormone replacement therapy. Journal of Bone and Mineral Research, Salmen et al. 15 (2000) (2): 315-321.

9. Allelic variants of human calcitonin receptor: distribution and association with bone mass in postmenopausal Italian women. Masi et al. Biochemical and Biophysical Research Communications (1998) 245, 622-626.

10. Association of CTR and col1A1 alleles with BMD values in peri and post-menopausal women. Calcif Tissue Int. Braga et al. (2000) 67, 361-366.