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PubMed1996

[Osteoporosis--what can and should be done in Sweden 1996? Swedish Osteoporosis Society].

Very recently we have seen the advent of new approaches to the investigation, treatment and prevention of osteoporosis. Pending the results of large prospective studies, a Swedish panel of experts has attempted to appraise currently available scientific knowledge of osteoporosis and make recommendations. A summary of this appraisal includes advice on bone densitometry, and on the treatment and management of patients with suspected or verified osteoporosis. It is suggested that individually tailored physical activity should be a fundamental feature of prevention and treatment, and that women in the 50-70-year-old age group, and perhaps older women as well, should have a daily calcium intake of 1200 mg. Vitamin D supplementation is recommended for the elderly under institutional care who spend no time outdoors. Oestrogen replacement therapy should be considered as prophylaxis in women at greater risk-e.g., due to manifest heredity, early menopause, low body weight, heavy smoking, or low bone mass, and in patients at risk of secondary osteoporosis.

Absorptiometry, Photon↗
PubMed1995

Differences in the characteristics of responders and non-responders in a prevalence survey of vertebral osteoporosis. European Vertebral Osteoporosis Study Group.

Men and women aged 50 years and over were recruited for participation in a population-based prevalence survey of vertebral osteoporosis from 36 centres in 19 European countries. All subjects were invited to attend by letter of invitation for a "lifestyle" interview and lateral spinal radiograph. The aim of this analysis was to investigate how far those who agreed to attend were representative of the target population and thus whether any important level of non-response bias existed. To address this a second invitation was sent to all non-responders and, in 20 centres, a sample of ultimate non-responders was contacted by mail, telephone or home visit and given a shortened version of the lifestyle questionnaire. Compared with the sample of non-responders, responders might be considered less at risk from osteoporosis in that as a group they took more exercise and were less likely to be current smokers. Other factors suggested the contrary in that they consumed less calcium and were more likely to have suffered a previous fracture. Amongst responders, these factors appeared also to be related to the timing of response. Thus compared with delayed responders, those who participated after a first letter of invitation took more exercise, were less likely to be smokers and more likely to have suffered a previous fracture. However, in contrast to the results suggested by the non-response survey early responders consumed more calcium than late responders. The magnitude of the differences between responders and non-responders was small (less than 10% for most of the categorical variables) and the differences were not consistently in the direction of an increased or decreased risk of osteoporosis. Additionally the size or direction of these differences was not consistently influenced by the response rate based on classifying centres into those with a high, medium or low response rate. This suggests that in this multicentre study response bias probably does not have a major influence on the prevalence estimates of vertebral fracture. In epidemiological studies of osteoporosis comparison of the lifestyle differences between early and late responders provides useful information concerning response characteristics.

Aged↗
PubMed1984

Effects of 1,25(OH)2D3 on bone tissue in the rabbit: studies on fracture healing, disuse osteoporosis, and prednisone osteoporosis.

A closed tibial fracture, which was controlled by an intramedullary stainless steel pin, was created in 16 rabbits. Eight rabbits were treated with 75 ng of 1,25(OH)2D3 daily as subcutaneous (s.c.) injections. After three weeks, the fractured tibia resisted a force of 101.7 +/- 21.0 Newtons in the control group and 57.3 +/- 8.0 Newtons in animals given 1,25(OH)2D3 (m +/- SE, P less than 0.05). In another group of eight rabbits, the left hindleg was immobilized in a plastic splint. Four rabbits were given 75 ng of 1,25(OH)2D3/day s.c. and the effect of immobilization was studied on the calcaneus. Bone ash/cm3 of the calcaneus on the immobilized side was decreased by 11 +/- 2% in control rabbits and by 20 +/- 2% in the group treated with 1,25(OH)2D3 indicating a more advanced immobilization osteoporosis (m +/- SE, P less than 0.05), which was also demonstrated by studies of bone density. Eighteen rabbits were used in a study of the effects of 1,25(OH)2D3 on the development of prednisolone osteoporosis. The dose of prednisolone was 2.5 mg per day, given by the oral route. After four months, the density of the femur was 1.53 +/- 0.02 g/cm2 in control rabbits and 1.42 +/- 0.01 in prednisolone-treated animals (P less than 0.01). In rabbits additionally given 1,25(OH)2D3, the mean value for bone density was further lowered (n.s.). It appears that 1,25(OH)2D3 exaggerates disuse osteoporosis and prednisolone osteoporosis and impairs fracture healing in rabbits. These results differ from what has been shown earlier with 1,25(OH)2D3 treatment in the rat.

Animals↗
PubMed2005

Ten-year prediction of osteoporosis from baseline bone mineral density: development of prognostic thresholds in healthy postmenopausal women. The Danish Osteoporosis Prevention Study.

Osteopenia is common in healthy women examined in the first year or two following menopause. Short-term fracture risk is low, but we lack algorithms to assess long-term risk of osteoporosis. Because bone loss proceeds at only a few percent per year, we speculated that baseline bone mineral density (BMD) would predict a large proportion of 10-year BMD and be useful for deriving predictive thresholds. We aimed to identify prognostic thresholds associated with less than 10% risk of osteoporosis by 10 years in the individual participant, in order to allow rational osteodensitometry and intervention. We analyzed dual energy X-ray absorptometry (DXA) of the lumbar spine (LS) and femoral neck (FN) from 872 women, who participated in the non-HRT arms of the Danish Osteoporosis Prevention Study and had remained on no HRT, bisphosphonates or raloxifene since inclusion 10 years ago. We defined development of a T -score below -2.5 at the LS and/or FN or incident fracture as end-point, and we derived prognostic thresholds for baseline BMD, defining 90% NPV (negative predictive value) and 90% sensitivity, respectively. Seventy-six percent of the variation in BMD of the LS at 10 years was predicted by baseline BMD. In an individual participant, a baseline BMD T -score above -1.4 (FN or LS, whichever was lower) was associated with a 10-year risk of less than 10% of developing osteoporotic BMD or fracture. This covered 69% of the population. By contrast, participants with T -scores below -1.4 had a 56% risk of fracture or low BMD within 10 years. At the population level, baseline T -score cutoffs below 0 at the LS (68% of the population), 0 at the FN (72%) or -0.6 (62%) at the lower of the two sites capture 90% of the population that developed osteoporosis during the following 10 years. A BMD measurement, performed in the first two years following menopause, is a strong long-term predictor of BMD in healthy women. The association is strong enough to provide robust prognostic thresholds, which can be used to divide the population into two prognostic classes at menopause.

Absorptiometry, Photon↗
PubMed1982

Studies on osteoporosis VII. Effect of 17 beta-hydroxy-4-estren-3-one 17-decanoate on experimental osteoporosis.

Total body neutron activation analysis was employed to measure total calcium in C3H/St (Ha) female mice. Ninety-nine percent of total body calcium is in bone and loss of calcium was used as an index of osteoporosis. Heparin (500 U/kg B.I.D.) treatment for three months resulted in significant osteoporosis. 17 beta-Hydroxy-4-estren-3-one 17-decanoate 1.5 mg/kg or 4 mg/kg twice monthly prevented this heparin accelerated osteoporosis. The results suggest that 17 beta-hydroxy-4-estren-3-one 17-decanoate may be capable of preventing bone loss and partially increasing bone mass in patients exposed to osteoporosis inducing regimens.

Animals↗
PubMedDate not supplied

Nutritional management of osteoporosis. To slow the advancement of osteoporosis, nurses must encourage their clients to increase their intake of calcium. For geriatric nurses, this may be a challenge.

In conclusion, no current effective therapy is available for the restoration of bone mass once osteoporosis has developed. Primary prevention is the best way to fight this problem. However, goals for the management of osteoporosis are (1) to maintain skeletal mass and integrity, (2) to slow bone resorption, and (3) to treat the symptomatic problem and its sequelae. Having a well-balanced diet containing adequate amounts of calcium, use of calcium supplements when necessary, reducing risk factors in life-style, and use of estrogen are therapeutic measures to reduce bone loss. Clients are also encouraged to exercise by walking or swimming and remain as active as possible. It is important to avoid strain on the spine, as occurs in lifting or bending, to prevent compression fractures on the vertebrae. For treating the symptoms of osteoporosis and its sequelae, it is necessary to relieve pain (by the use of analgesics), provide comfortable light mechanical support for the spine, if needed, arrange assistance in activities of daily living, coordinate a rehabilitation program, and provide emotional support and reassurance to the patient and family. This may be an area largely neglected in practice. Gerontologic nurses may be the first to take the time to thoroughly discuss osteoporosis with their elderly clients and help them to develop a comprehensive program. If through their efforts some falls and fractures can be prevented, this is nursing at its best.

Aged↗
PubMed2006

Brief osteoporosis education in an inpatient rehabilitation setting improves knowledge of osteoporosis in elderly patients with low-trauma fractures.

The effect of an osteoporosis education program on knowledge of osteoporosis was assessed in elderly rehabilitation inpatients with low-trauma fractures. A modified version of the Osteoporosis Questionnaire (OPQ) was administered prior to and following a brief education program on the rehabilitation ward, and again at 4-6 months. A historical control group, admitted to the same ward prior to the educational program, was used as a comparison. The baseline mean OPQ test score (out of 20) for the intervention group was 7.26. The OPQ score significantly increased by a mean of 2.16 during the admission. The difference was increased in the available subjects at the 6-month questionnaire, with a significant mean increase of 2.67. There was a significant correlation between admission Functional Independence Measure (FIM) score and both baseline OPQ score (r=0.59) and follow-up OPQ score (r=0.60). There was a significant correlation between discharge FIM score and increase in OPQ score from baseline to follow-up (r=0.77), and with OPQ score at follow-up (r=0.76). There was a significant correlation between the Mini Mental State Examination at follow-up (r=0.78), and the change in OPQ score between initial survey and follow-up (r=0.70). Osteoporosis education in elderly rehabilitation inpatients with fractures is effective, but requires adequate patient cognitive skills.

Aged↗
PubMed2005

Strontium ranelate reduces the risk of nonvertebral fractures in postmenopausal women with osteoporosis: Treatment of Peripheral Osteoporosis (TROPOS) study.

BACKGROUND: Strontium ranelate, a new oral drug shown to reduce vertebral fracture risk in postmenopausal women with osteoporosis, was studied in the Treatment of Peripheral Osteoporosis (TROPOS) study to assess its efficacy and safety in preventing nonvertebral fractures also. METHODS: Strontium ranelate (2 g/d) or placebo were randomly allocated to 5091 postmenopausal women with osteoporosis in a double-blind placebo-controlled 5-yr study with a main statistical analysis over 3 yr of treatment. FINDINGS: In the entire sample, relative risk (RR) was reduced by 16% for all nonvertebral fractures (P = 0.04), and by 19% for major fragility fractures (hip, wrist, pelvis and sacrum, ribs and sternum, clavicle, humerus) (P = 0.031) in strontium ranelate-treated patients in comparison with the placebo group. Among women at high risk of hip fracture (age > or = 74 yr and femoral neck bone mineral density T score < or = -3, corresponding to -2.4 according to NHANES reference) (n = 1977), the RR reduction for hip fracture was 36% (P = 0.046). RR of vertebral fractures was reduced by 39% (P < 0.001) in the 3640 patients with spinal x-rays and by 45% in the subgroup without prevalent vertebral fracture. Strontium ranelate increased bone mineral density throughout the study, reaching at 3 yr (P < 0.001): +8.2% (femoral neck) and +9.8% (total hip). Incidence of adverse events (AEs) was similar in both groups. CONCLUSION: This study shows that strontium ranelate significantly reduces the risk of all nonvertebral and in a high-risk subgroup, hip fractures over a 3-yr period, and is well tolerated. It confirms that strontium ranelate reduces vertebral fractures. Strontium ranelate offers a safe and effective means of reducing the risk of fracture associated with osteoporosis.

Aged↗
PubMed1997

Clinical grading of spinal osteoporosis: quality of life components and spinal deformity in women with chronic low back pain and women with vertebral osteoporosis.

Clinical consequences of osteoporotic vertebral fractures, such as back pain, functional limitations, and impairment of mood, are often cited as justification for prevention and therapy. But these symptoms are poorly characterized, and a clinical grading system is not available. The aim of this study was to compare clinical measures for spinal deformation and quality of life components between patients with osteoporosis and patients with chronic low back pain (CLBP) and to determine the relationship between spinal deformation and quality of life components. A total of 130 female patients (63 osteoporotic patients, 65 +/- 7.9 years, and 77 CLBP patients, 56 +/- 6.5 years) had a standardized interview on quality of life components (pain, activities of daily life, mood) and clinical measures of spinal deformation (height reduction [HR], distance from occiput to wall [DOW], and distance from iliac crest to ribs [DIR]). Spinal X-rays were reviewed in all patients for the evidence of vertebral fractures. In osteoporotic patients, vertebral deformity was quantified by the spine deformity index (SDI) on X-rays. It was assessed whether subgroups could be identified by a combination of indices for spinal deformation (SDI, HR, DOW) using a cluster analysis. Back pain was a major complaint in both groups, without differences in pain intensity and frequency. Impairment of general well being and mood was found in about one-third of the patients in both groups. Independent of age, the disability score was significantly higher in patients with osteoporosis than in patients with CLBP. Both groups differed with respect to clinical measures of spinal deformity (HR, DOW, DIR). Among osteoporotic patients, parameters of quality of life were not linearly related to the degree of radiologically assessed vertebral deformity, but osteoporotic patients with two or more vertebral fractures tended to have more functional limitations than those with only one fracture. There was, however, a significant linear relationship between components of quality of life (disability score, pain) and clinical measures of spinal deformation (HR, DOW, DIR). The osteoporotic patients were subdivided into three clusters. The first group was characterized by low spinal deformation (decreases SDI, decreases HR, decreases DOW) and little impairment of quality of life. The second group had significantly greater spinal deformation (increases SDI, increases HR, increases DOW) and significantly more pain and functional limitations. The third group was characterized by increased kyphosis, mainly caused by nonskeletal dysfunction (decreases SDI, decreases HR, increases DOW), but pain and functional limitations were impaired to the same degree as in the second group with severe skeletal spinal deformation. We conclude that with respect to quality of life components, functional limitation is the most specific to spinal osteoporosis and is related to clinical measures of spinal deformation. Furthermore, spinal deformation and the clinical course of osteoporosis appears to be insufficiently reflected by radiological indices of vertebral deformity (such as SDI) alone. For grading the disease and for therapeutical concepts, radiological measures and clinical evaluation should be considered in combination.

Aged↗
PubMed2000

Prevalence of osteoporosis in Australian women: Geelong Osteoporosis Study.

To evaluate the prevalence of osteoporosis at various sites among Australian women, cross-sectional bone mineral density (BMD) data for adult females was obtained from an age-stratified population-based sample (n = 1494; 20-94 yr) drawn at random from the Barwon Statistical Division, a population characteristic of Australia. Age- and weight- (and for three sites, height) matched reference ranges for BMD at the lumbar spine, proximal femur, forearm, and total body were developed using regression techniques. The cutoff BMD level for osteoporosis at the PA spine was 0. 917g/cm(2) and 0.713 g/cm(2) at the femoral neck according to the World Health Organization (WHO) guidelines. The upper cutoff level for osteopenia was 1.128 g/cm(2) at the PA spine and 0.913g/cm(2) for the femoral neck. The proportion of Australian women categorized as having osteoporosis at the PA spine, femoral neck, or midforearm ranged from 0.9% among those aged 40-44 yr to 87.0% for those older than 79 yr. This study provides reference data representative of the Australian female population. A large proportion of elderly Australian women has osteoporosis according to the WHO guidelines.

Absorptiometry, Photon↗
PubMed2005

Prevalence of osteoporosis using DXA bone mineral density measurements at the calcaneus: cut-off points of diagnosis and exclusion of osteoporosis.

The objective of this article is to evaluate different T-score cut-off points in the calcaneus in order to establish the prevalence of osteoporosis in the general population and to evaluate the clinical value of bone mineral density at the calcaneus as a tool to identify patients with spine or hip osteoporosis. A total of 1455 people (727 women and 728 men) from the Hortega cohort were studied. The densitometric studies were carried out in the calcaneal region using a Peripheral Instantaneous X-ray Imaging (PIXI) Lunar bone densitometer. We established three cut-off points (-1.6, -2.0, -2.5). One-hundred twenty-five patients (67 men with a mean age of 47 +/- 13 yr and 58 women with a mean age of 66 +/- 8 yr) from internal medicine outpatient clinics who were undergoing densitometry of the calcaneus, spine, and hip were subsequently studied. The prevalence of osteoporosis in women with a calcaneus T-score -1.6 was 12.4%, which is comparable to the 12.7% obtained with an axial densitometer in a Spanish population. The prevalence in men was 7.8%, with a calcaneus T-score of <-2.0. In women, the highest sensitivity (85%) was obtained with a calcaneus T-score of <-1.0 and the highest specificity with a calcaneus T-score of <-2.5. In men, the best sensitivity (61%) was obtained with a calcaneus T-score of <-1.0 and the best specificity (98%) with a calcaneus T-score of <-2.5. A calcaneus T-score <-1.6 is an adequate cut-off to establish the prevalence of osteoporosis in population studies. In women, a calcaneus T-score of >-1.0 enables the diagnosis of the disease to be excluded, whereas a calcaneus T-score of <-2.5 enables the diagnosis to be confirmed and treatment to be initiated in both men and women.

Absorptiometry, Photon↗
PubMed1999

[Interdisciplinary quality circle for osteoporosis. First results from the Regional Advisory Board for Osteoporosis for Saxony-Thuringia].

The Regional Advisory Board Osteoporosis (REKO) for Saxony-Thuringia has established interdisciplinary quality circles in different districts with the goal to standardize the diagnosis of osteoporosis. Therefore, they developed a standardized program for general practitioners, gynecologists, internists and orthopedics. The documentation sheet covers 5 areas: Identification of the anamnestic osteoporosis risk with 7 standardized questions: If the patient reaches 3 or more out of 13 possible points, we assume he is at risk. 3 out of 5 clinical symptoms, 3 out of 6 x-ray symptoms and osteoporosis typical results of the bone density measurement in combination with the anamnesis give us a scale which allows us to classify each symptom for diagnostic purpose. The differential diagnostic laboratory program includes: Blood sedimentation rate, calcium, alkaline phosphatase, creatine, TSH basal and 25 OH vitamin D3 in the serum. To check effectiveness of the antiresorptive therapy, bone specific resorption markers are sometimes usable. The program will be implemented this year in all quality circles, evaluated and then defined in its final form. Among the participants of the quality circles, the program is already usable and offers a reliable basis for the therapy.

Diagnosis, Differential↗
PubMed2000

Osteoporosis. An overview of the National Osteoporosis Foundation clinical practice guide.

During the past decade, numerous organizations and associations have published recommendations for the prevention and treatment of osteoporosis. For the primary care physician, the most applicable of these--due to its reliance on clinical trial data and its scope--is the clinical guide published by the National Osteoporosis Foundation. The guide addresses risk assessment, bone mineral density testing, diagnosis, nutritional supplementation, and pharmacologic therapy, including consideration of the newer agents used to slow or manage osteoporosis progression. Reflecting one of the key deficiencies in the clinical trial data, the guide applies predominantly to a patient population of postmenopausal white females. The refined design of new osteoporosis studies will in time allow for recommendations that apply to a more diverse patient population.

Accidental Falls↗
PubMed2000

[Secondary osteoporosis and glucocorticoid-induced osteoporosis].

In order to assess properly the diagnosis of osteoporosis, a short clinical investigation is required to address potential causes for bone loss. Osteoporosis used to be suspected in a patient with vertebral demineralization, but nowadays it is often diagnosed in a patient with a low bone mass on a screening dual-energy X-ray absorptiometry (DEXA). In this setting, it is important for the clinician to look for secondary osteoporosis, especially in men in whom secondary osteoporosis is more frequent than in women, before discussing any specific therapy. The major causes are longterm glucocorticoid therapy, endocrine (hypogonadism, primary hyperparathyroidism, hyperthyroidism), or digestive diseases.

Adult↗
PubMedDate not supplied

Clinical practice guidelines proposed by the Hellenic Foundation of Osteoporosis for the management of osteoporosis based on DXA results.

In recent years guidelines for the testing and treatment of osteoporotic patients have been published by recognised organisations, including the World Health Organisation (WHO), the National Osteoporosis Foundation (NOF) and the International Osteoporosis Foundation (IOF). Dual Energy X-ray Absorptiometry (DXA) has been considered the technique of choice because of its excellent precision and ability to predict osteoporotic fractures. Last December, based on the Appraisal of the Guidelines for Research and Evaluation (AGREE), the Hellenic Foundation of Osteoporosis, in collaboration with other scientific societies, provided guidelines for the use of DXA for the diagnosis, monitoring and treatment of osteoporosis and Quality Assurance (QA) of these systems. According to these guidelines, the adequacy of the present number of DXA units in Greece was assessed. There are 367 DXA units in Greece, and almost 50% are located in the capital city, Athens, where 34.1% of the population lives. The distribution of DXA devices per resident in the Greek provinces (except Attica) is between 4.2 units/100,000 heads (Ionian Islands) and 1.6 units/100,000 heads (Sterea Hellas). These guidelines have resulted in a suggestive yearly repeat of the measurements, to ensure the precision of the method, but mainly for reasons of compliance. Finally, these guidelines are viewed as a work in progress and will be updated periodically in response to advances in this field.

Adult↗
PubMed1982

Studies on osteoporosis VI. Effect of human and salmon calcitonin on experimental osteoporosis.

Neutron activation analysis was employed to determine total body calcium in C3H/St (Ha) female mice. Ninty-nine percent of total body calcium is in bone and loss of calcium was used as an index of osteoporosis. Heparin (500 U/kg B.I.D.) treatment for three months resulted in significant osteoporosis. Both human and salmon calcitonin (4 MRC U/Kg B.I.D.) prevented heparin induced osteoporosis. The results suggest that calcitonin may prevent pathological fractures in patients on anticoagulants and other osteoporosis inducing regimens.

Animals↗
PubMed1996

Guidelines for the early detection of osteoporosis and prediction of fracture risk. Council of the National Osteoporosis Foundation.

OBJECTIVE: To assess methods available in clinical practice for the early detection of osteoporosis and prediction of fracture risk, and to set guidelines for their use. To make recommendations regarding cost-effective screening of asymptomatic subjects by physicians. OPTIONS: Three methods to predict fracture risk are considered: (i) clinical risk factor analysis; (ii) biochemical tests; and (iii) techniques to measure bone mass. Mass (unselected) screening is compared with screening only those at risk of sustaining a fracture. The optimal age/time of screening and therapeutic intervention thresholds are also considered. OUTCOMES: The main potential outcomes considered are the morbidity and mortality of advanced osteoporosis and fracture; the accuracy, precision, safety and costs of screening tests; and treatment for those at risk. EVIDENCE: Based on the results of published recommendations of international osteoporosis societies, World Health Organisation guidelines and expert opinion. VALUES: The guidelines were developed by the National Osteoporosis Foundation in conjunction with other specialists and societies. A workshop attended by all the osteodensitometrists in the country was held in August 1994 to obtain consensus on recommendations. There were no major disputes about the content. The guidelines are intended to optimise health care of society as a whole and are not geared to individual patients. BENEFITS, HARMS AND COSTS: Up to 20% of victims of hip fracture die within 1 year and less than 50% ever regain the functional capability to lead an independent life. The cost of acute fracture care in the USA exceeded $10 billion in 1990. Early intervention has been shown to reduce the rate of vertebral and hip fractures by 50 - 70%. The cost of fracture care and of selected screening has not been measured in this country. Measurement of bone mass is safe, accurate and precise. RECOMMENDATIONS: (i) Measurement of bone mass employing dual-energy X-ray absorptiometry (DEXA) is at present the method of choice to predict hip and vertebral fracture risk. A single measurement can correctly identify the majority of those at risk. (ii) Densitometric screening of all (asymptomatic) women cannot be recommended, and selective screening according to specific indications is suggested. Densitometry is indicated at any age if the indication is valid. (iii) Guidelines for the interpretation of bone mass data, including therapeutic intervention thresholds, are suggested.

Bone Density↗
PubMed2004

Estrogen receptor alpha gene analysis in osteoporosis and familial osteoporosis.

Estrogens are important determinants of bone mineral density (BMD) mediating their effects via estrogen receptor alpha (ERalpha) and beta (ERbeta). The strong genetic predisposition to osteoporosis, and the fact that alterations in the aminoterminal region of ERalpha have been linked to bone disturbances, prompted us to identify genetic alterations in exon 1 and exon 2 of ERalpha in osteoporotic individuals. Sixty-two unrelated normal subjects (age 46.1+/-9.5 years) and 72 unrelated osteoporotic subjects (age 52.3+/-7.9 years) were studied. Their menopausal status was pre- and perimenopausal. We also included 30 related osteoporotic individuals (mother-daughter or sister-sister relationship) (age 46.2+/-12.8 years) belonging to 14 families who where also pre- and perimenopausal. DNA was extracted from peripheral blood, exons 1 and 2 were amplified by polymerase chain reaction (PCR) and were further submitted to denaturing gradient gel electrophoresis (DGGE), single stranded conformational polymorphism (SSCP), restriction fragment length polymorphism (RFLP) and sequence analysis. Bone turnover markers were also determined. Two polymorphisms were identified in exon 1 (codons 10 and 87) in both normal and osteoporotic women. Statistical analysis revealed no difference (P>0.05) in the ERalpha genotype frequencies within osteoporotic families as compared with the same genotypes in the unrelated normal or osteoporotic subjects. Codon 10, codon 87 polymorphisms were not related to BMD or bone turnover markers. No other mutations were found in exons 1 and 2 in all subjects studied. Genetic alterations in exons 1 and 2 of ERalpha are not associated to osteoporosis and familial osteoporosis. Moreover, the codon 10 and codon 87 polymorphisms do not seem to be correlated with BMD and bone turnover markers.

Adult↗