title: [Analysis of Bsm I polymorphism of the vitamin D receptor (VDR) gene in Venezuelan female patients living in the state of Zulia with osteoporosis].
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 other 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.
authors.affiliation: Laboratorio de Genética Molecular, Unidad de Genética Médica, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venezuela. lisbor@iamnet.com
authors.forename: Lisbeth
authors.initials: L
authors.lastname: Borjas-Fajardo
authors.forename: Mariana
authors.initials: M
authors.lastname: Zambrano
authors.forename: Erika
authors.initials: E
authors.lastname: Fernández
authors.forename: Lennie
authors.initials: L
authors.lastname: Pineda
authors.forename: Alisandra
authors.initials: A
authors.lastname: Machín
authors.forename: Pilar
authors.initials: P
authors.lastname: de Romero
authors.forename: William
authors.initials: W
authors.lastname: Zabala
authors.forename: María Alejandra
authors.initials: MA
authors.lastname: Sánchez
authors.forename: José Antonio
authors.initials: JA
authors.lastname: Chacín
authors.forename: Wilmer
authors.initials: W
authors.lastname: Delgado
mesh_terms: D005260:Female; D006801:Humans; D008875:Middle Aged; D009077:Mucins / Q000235:genetics*; D010024:Osteoporosis / Q000235:genetics*; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D014687:Venezuela
chemical_list: C115439:BSM1 protein, Bos taurus; D009077:Mucins; D018167:Receptors, Calcitriol