RESUMEN
BACKGROUND: Osteoporosis is a major health problem for older individuals. For women, development of osteoporosis is a function of the accretion of "peak" bone mass in the third decade, age at menopause, and rate of bone loss with aging. Low bone mineral density (BMD) is a major risk factor for osteoporosis and fracture. The purpose of this study was to identify life style, nutritional, medical, and genetic predictors of low BMD in postmenopausal Iowa women. METHODS: One hundred thirty-four postmenopausal White women ranging in age from 57 to 81 years were included in this case-control study. Bone mineral density was measured at the femoral neck, using dual photon X-ray absorptiometry (Hologic 2000 QDR). Sixty-six women with BMD measurements below 0.68 g/cm2 (the bottom quartile of the BMD distribution in the population from which participants were recruited), and 68 women with values at or above 0.83 g/cm2 (the top quartile of the BMD distribution in the same population) were included. Information about environmental, nutritional, medical, and life style modifiers of BMD was obtained by written questionnaire and telephone interview. To assess familial factors that might influence BMD, we obtained a detailed family history for each participant. In addition, we tested the hypothesis that allelic variation at the Vitamin D receptor (VDR), and the type I collagen gene (COL1A1 and COL1A2) loci influence BMD. RESULTS: Weight, loss of height, age, and age at menopause were strong predictors of BMD in our population. After adjustment for these differences, we found no effect of genotype at the COL1A1, COL1A2, and VDR loci on BMD. CONCLUSIONS: Bone mineral density is a complex trait that is influenced by several different modifiers; in the present study, weight was the best predictor of postmenopausal BMD. While several studies suggest that VDR genotype is an important determinant of BMD, we did not find this association in our population, nor did we identify an association between allelic variation at the type I collagen gene loci and BMD. Identification of genes that determine body mass index may provide additional insight into risk factors for low BMD, and osteoporotic fractures.
Asunto(s)
Densidad Ósea , Posmenopausia/metabolismo , Anciano , Anciano de 80 o más Años , Colágeno/genética , Femenino , Genotipo , Humanos , Persona de Mediana Edad , Receptores de Calcitriol/genéticaRESUMEN
A new kindred with Alport's syndrome is presented with the clinical and historical data permitting diagnosis. History of family members with nephritis and oto-ophthalmologic anomalies in the presence of nephritis in a given patient continues to be the strongest clue to Alport's syndrome. As the disease is one of the few in which life-threatening renal failure can be thus predicted, increased emphasis on diagnosis is urged in place of casually categorizing these patients together with those who have Bright's disease. Public Law 92-603 is a mandata from the public for physicians to exercise every avenue of diagnosis and salvage for the nephritic patient. Alport's syndrome with nephritis represents an opportunity to plan for eventual dialysis and renal transplantation.