Fractures of the proximal femur: correlation with vitamin D receptor gene polymorphism

• Published in: Brazilian journal of medical and biological research Vol. 31; no. 7; pp. 921 - 927
• Main Authors: Ramalho, A C, Lazaretti-Castro, M, Hauache, O, Kasamatsu, T, Brandão, C, Reis, A F, Takata, E, Cafalli, F, Tavares, F, Gimeno, S G, Vieira, J G
• Format: Journal Article
• Language: English
• Published: Brazil Associação Brasileira de Divulgação Científica 01-07-1998
• Subjects: Age Factors; Aged; Aged, 80 and over; BIOLOGY; Bone Density - genetics; Female; Femoral Neck Fractures - genetics; fracture of proximal femur (FPF); Genotype; Humans; Male; MEDICINE, RESEARCH & EXPERIMENTAL; osteoporosis; Osteoporosis - genetics; Osteoporosis - prevention & control; Osteoporosis, Postmenopausal - genetics; Polymorphism, Genetic; Receptors, Calcitriol - analysis; Risk Factors; Sex Factors; vitamin D receptor polymorphism; osteoporosis; fracture of proximal femur (FPF); vitamin D receptor polymorphism
• ISSN: 0100-879X; 1414-431X; 0100-879X; 1414-431X
• DOI: 10.1590/S0100-879X1998000700006

Fractures are the feared consequences of osteoporosis and fractures of the proximal femur (FPF) are those that involve the highest morbidity and mortality. Thus far, evaluation of bone mineral density (BMD) is the best way to determine the risk of fracture. Genetic inheritance, in turn, is one of the major determinants of BMD. A correlation between different genotypes of the vitamin D receptor (VDR) and BMD has been recently reported. On this basis, we decided to determine the importance of the determination of VDR genotype in the presence of an osteoporotic FPF in a Brazilian population. We studied three groups: group I consisted of 73 elderly subjects older than 65 years (78.5 +/- 7.2 years) hospitalized for nonpathological FPF; group II consisted of 50 individuals older than 65 years (72.9 +/- 5.2 years) without FPF and group III consisted of 98 young normal Brazilian individuals aged 32.6 +/- 6.6 years (mean +/- SD). Analysis of VDR gene polymorphism by restriction fragment length polymorphism (RFLP) was performed by PCR amplification followed by BsmI digestion of DNA isolated from peripheral leukocytes. The genotype distribution in group I was 20.5% BB, 42.5% Bb and 37% bb and did not differ significantly from the values obtained for group II (16% BB, 36% Bb and 48% bb) or for group III (10.2% BB, 47.6% Bb and 41.8% bb). No differences in genotype distribution were observed between sexes or between the young and elderly groups. We conclude that determination of VDR polymorphism is of no practical use for the prediction of FPF. Other nongenetic factors probably start to affect bone mass, the risk to fall and consequently the occurrence of osteoporotic fractures with advancing age.