Sosa Henríquez M, Torres Ramírez A, Domínguez Cabrera C, Salido E, Saavedra Santana P, Barrios Y, Limiñana Cañal J M, Betancor León P
Departamento de Ciencias Clínicas, Universidad de Las Palmas de Gran Canaria.
Med Clin (Barc). 1998 May 16;110(17):646-50.
Genetic factors condition an important part of bone mass. The role of vitamin D receptor polymorphism (VDR) as genetic marker of osteoporosis is a matter of discussion. We have studied the possible influence of VDR on bone remodelling, calciotropic hormones, on the presence of osteoporosis and osteoporotic bone fractures. PATIENTS, CONTROL POPULATION AND METHODS: A case-control study. We have studied a total of 127 postmenopausal Canarian women from Canary Islands, Spain; 66 healthy controls and 61 with the diagnosis of osteoporosis, which was made by clinical, radiological and densitometric criteria. 17 osteoporotic women have had a fracture: Colles, hip or vertebral (spinal deformity index) fracture. VDR were determined by PCR directed to demonstrate the presence (b) or absence (B) of a restriction target for Bsml in intron 7. We analyzed some biochemical markers of bone remodelling: serum levels of alkaline phosphatase, tartrate resistant acid phosphatase and urine ratios of calcium/creatinine and hydroxyproline/creatinine. We also determined calciotropic hormones: parathyroid hormone and calcitonin. Bone mass was measured by DEXA and TC.
There were no significant differences in either biochemical bone remodelling markers or in bone mass between the three genotypes: bb, Bb and BB, either in controls or in osteoporotic women with the exception of alkaline phosphatase which had a significative increase compared to control in women with unfavorable alleles distribution (bB and BB). Distribution of genotypes was similar between controls and osteoporotic women, with or without fractures.
In Canarian women, VDR genotype is not associated with changes in biochemical markers of bone remodelling or in bone mass or with the presence of osteoporosis or osteoporotic fractures.
遗传因素在骨量形成中起重要作用。维生素D受体多态性(VDR)作为骨质疏松症遗传标志物的作用存在争议。我们研究了VDR对骨重塑、钙调节激素、骨质疏松症的存在及骨质疏松性骨折的可能影响。
患者、对照人群与方法:一项病例对照研究。我们共研究了127名来自西班牙加那利群岛的绝经后加那利妇女;66名健康对照者和61名被诊断为骨质疏松症的患者,骨质疏松症的诊断依据临床、放射学和骨密度测量标准。17名骨质疏松症女性发生了骨折:Colles骨折、髋部骨折或椎体(脊柱畸形指数)骨折。通过聚合酶链反应(PCR)测定VDR,以证明第7内含子中BsmI限制性靶标的存在(b)或缺失(B)。我们分析了一些骨重塑的生化标志物:血清碱性磷酸酶、抗酒石酸酸性磷酸酶水平以及尿钙/肌酐和羟脯氨酸/肌酐比值。我们还测定了钙调节激素:甲状旁腺激素和降钙素。通过双能X线吸收法(DEXA)和总钙(TC)测量骨量。
在三种基因型(bb、Bb和BB)之间,无论是在对照者还是骨质疏松症女性中,骨重塑生化标志物或骨量均无显著差异,但碱性磷酸酶除外,在等位基因分布不利(bB和BB)的女性中,其与对照相比有显著升高。对照者与骨质疏松症女性之间,无论有无骨折,基因型分布相似。
在加那利妇女中,VDR基因型与骨重塑生化标志物的变化、骨量、骨质疏松症的存在或骨质疏松性骨折均无关联。