Resumen

BORJAS-FAJARDO¹, Lisbeth et al. Análisis del polimorfismo Bsm I del gen receptor de la vitamina D (VDR) en pacientes venezolanas residentes del estado Zulia con osteoporosis. Invest. clín [online]. 2003, vol.44, n.4, pp.275-282. ISSN 0535-5133.

Abstract.   Among genes implied on the osteoporosis genetics, the most studied gene worldwide is the receptor gene of D vitamin (VDR), through the characterization of Bsm I polymorphism. The main objective of this research was to analyze the Bsm I polymorphism of the VDR gene in a sample of 133 postmenopausal women distributed in three groups: 54 with osteoporosis, 24 with osteopenia and 55 normal controls for the disease. 28 of the women with osteoporosis presented the BB genotype, which is related in others countries to bone mineral density decrease, 20 had the Bb genotype, and 6 the bb genotype. Of the control group only 11 women presented the BB genotype, 36 showed the heterozygote genotype and 8 the bb genotype. The frequencies of the B and b alleles in the analyzed population were 0.6 and 0.4 respectively. The BB genotype was found in 52% of the group with osteoporosis, and in 20% of the control group, these findings are statistically significant, which suggest an association between the BB genotype and osteoporosis.

Palabras clave : Osteoporosis; VDR gene; Bsm I polymorphism; Venezuela.