DESIGN: It was suggested that genetic factors play an important role in the regulation of bone mineral density and in the pathogenesis of bone fracture in osteoporosis. PvuII restriction polymorphism in the intron 1 of the gene coding estrogen receptor alpha (ER-alpha) is indicated to play a significant role in osteopenia and osteoporosis development. The goal of our study was to determine the frequency and the significance of PvuII polymorphism of the ER-alpha gene in the group of postmenopausal women with osteopenia and osteoporosis. MATERIALS AND METHODS: 93 postmenopausal women with osteopenia and osteoporosis (t-score lower than (-1), and 141 healthy postmenopausal women have been investigated for PvuII polymorphism of the ER-a gene using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) assays. RESULTS: We have observed higher frequency of homozygous genotype PP (25.8 vs. 19.8%) and P allele (50.6 vs. 46.1%) in the group of women with low level of t-score. In the osteopenic women (-2.5 < T-score < -1.0) the significant difference in the distribution of t-score index and genotypes has been found. t-score index correlated with body mass index (BMI), mean body weight, BMD aged matched (AM) and BMD young adults (YA) index. The AM and YA index correlated with the number of pregnancies. CONCLUSIONS: The presence of PP genotype and P allele could be connected with higher bone loss and with the development of osteopenia and osteoporosis in postmenopausal women.
DESIGN: It was suggested that genetic factors play an important role in the regulation of bone mineral density and in the pathogenesis of bone fracture in osteoporosis. PvuII restriction polymorphism in the intron 1 of the gene coding estrogen receptor alpha (ER-alpha) is indicated to play a significant role in osteopenia and osteoporosis development. The goal of our study was to determine the frequency and the significance of PvuII polymorphism of the ER-alpha gene in the group of postmenopausal women with osteopenia and osteoporosis. MATERIALS AND METHODS: 93 postmenopausal women with osteopenia and osteoporosis (t-score lower than (-1), and 141 healthy postmenopausal women have been investigated for PvuII polymorphism of the ER-a gene using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) assays. RESULTS: We have observed higher frequency of homozygous genotype PP (25.8 vs. 19.8%) and P allele (50.6 vs. 46.1%) in the group of women with low level of t-score. In the osteopenic women (-2.5 < T-score < -1.0) the significant difference in the distribution of t-score index and genotypes has been found. t-score index correlated with body mass index (BMI), mean body weight, BMD aged matched (AM) and BMD young adults (YA) index. The AM and YA index correlated with the number of pregnancies. CONCLUSIONS: The presence of PP genotype and P allele could be connected with higher bone loss and with the development of osteopenia and osteoporosis in postmenopausal women.