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At least 19 recordsLinked to original sources
PubMed2026

Fractures are highly correlated with bone density and inversely correlated with bone turnover markers in autosomal dominant osteopetrosis.

Autosomal dominant osteopetrosis (ADO) is a rare osteosclerotic disorder usually caused by missense variants in the CLCN7 gene, which results in impaired osteoclastic bone resorption. Penetrance is incomplete, and disease severity varies widely, even among relatives within the same family. Although ADO can cause visual loss, osteonecrosis, osteomyelitis, and bone marrow failure, the most common complication of ADO is fracture. We are conducting a natural history study to characterize disease progression and determinants of disease severity. We hypothesized that baseline BMD and bone turnover markers would correlate with self-reported fracture history. We report cross-sectional analysis of baseline data from the natural history study in 54 individuals (42 adults, 12 children). In adults, Z-scores for both volumetric (r&#xa0;=&#x2009;0.87, p&#xa0;<&#x2009;.001) and areal BMD (aBMD) of the LS, and Z-scores for FN, and TH aBMD (r&#xa0;=&#x2009;0.77 to 0.78; p&#xa0;<&#x2009;.001) were correlated with lifetime fracture number. Tartrate resistant acid phosphatase, a marker of osteoclast number, correlated positively with fracture (r&#xa0;=&#x2009;0.52, p&#xa0;=&#x2009;.004) consistent with an adaptive response of higher numbers of osteoclasts among more severely affected individuals. However, fracture number correlated inversely with the bone resorption markers serum C-telopeptide (r&#xa0;=&#x2009;-0.60, p&#xa0;<&#x2009;.001) and urine N-telopeptide/creatinine ratio (r&#xa0;=&#x2009;-0.35, p&#xa0;=&#x2009;.047), suggesting that ADO subjects who have the most reduced osteoclast activity have a greater tendency to fracture. Correlation coefficients between fractures, BMD, and bone turnover markers were similar when limited to the 37 adults with disease-causing CLCN7 variants. There were no statistically significant differences between subjects with the most common CLCN7 variant (G215R), the most common variant in our cohort, compared to other CLCN7 variants with respect to fracture, bone density measures, or biochemical markers of bone turnover. These data demonstrate that bone density and biochemical bone turnover markers are indicators of ADO severity as defined by fracture number.

Humans↗
PubMed1975

Photon absorptiometric analysis of bone density in primary hyperparathyroidism.

The density of bone in the distal third of the radius was measured in 13 men and 17 women with primary hyperparathyroidism. The bone density was significantly reduced (as compared to age-matched controls) in 7 of 11 postmenopausal women. However, it was reduced in only 2 of 13 men and in 1 of 6 premenopausal women. Thus, most of the postmenopausal women with primary hyperparathyroidism had low bone density, whereas most men and premenopausal women with this condition had normal bone density. The results support the conclusion that oestrogen deficiency may contribute to the development of bone disease by sensitising bone to the action of parathyroid hormone.

Adult↗
PubMedDate not supplied

Bone density in ageing Caucasian and African populations.

Fracture surveys in the Johannesburg metropolitan area showed that the rate of femoral-neck fractures rose sharply after the climacteric in Caucasians, whereas the incidence of such fractures in African Negroes of the same age was almost negligible. However, a parallel epidemiological survey of metacarpal bone density in random samples of the same populations showed that absolute values for skeletal mass and bone density were greater in the Caucasians through most of the age-range from 5 to 75 years. Also, although bone density increased more rapidly and reached higher maximum values in young Caucasians than in Africans, it fell more rapidly in the former from the fourth decade onwards. The differences in the pattern of bone density alone are unlikely to account for the large difference in the fracture rates in the two populations. Perhaps quantitative changes in bone mass associated with ageing are accompanied by qualitative changes which may be critical in determining the liability to fracture.

Adolescent↗
PubMed1976

[Measurements of bone mineral concentration ("hydroxylapatite-volume values") and of bone density in vitro and in vivo with a densitometric method using beams of two different energies (author's transl)].

The densitometric method of Rassow-Strüter (1969) using beams of two energies permits separate estimations of bone mineral and connective tissue concentrations in bone; their sum indicates bone density. The value of the method has been examined and the early results of in-vitro and in-vivo measurements are quoted. The former were obtained from pairs of macerated calcanei and vertebral bodies embedded in resin blocks. The in-vivo estimations were concerned with obtaining normal values in healthy children aged four to fifteen years and adults aged 18 to 54 years. Standard deviation, obtained from measurements of four different points of both calcanei in adults was KM 12% for Hydroxylapatite-volume values, and for bone density 14%. The average value for KM for the whole group is 198 mg/cm3 with 17% standard deviation of the single measurements compared with the average. The following-up measurements for children with renal disease do not yet allow final conclusions about the correlation of the clinical aspects of case to the measured bone parameters and their value as independent criteria. For 16 nursing mothers a significantly lower average HA volume value KM = 149 mg/cm3 +/- 21% was found.

Absorptiometry, Photon↗
PubMed2022

Abdominal aortic calcification on lateral spine images captured during bone density testing and late-life dementia risk in older women: A prospective cohort study.

BACKGROUND: Dementia after the age of 80 years (late-life) is increasingly common due to vascular and non-vascular risk factors. Identifying individuals at higher risk of late-life dementia remains a global priority. METHODS: In prospective study of 958 ambulant community-dwelling older women (&#x2265;70 years), lateral spine images (LSI) captured in 1998 (baseline) from a bone density machine were used to assess abdominal aortic calcification (AAC). AAC was classified into established categories (low, moderate and extensive). Cardiovascular risk factors and apolipoprotein E (APOE) genotyping were evaluated. Incident 14.5-year late-life dementia was identified from linked hospital and mortality records. FINDINGS: At baseline women were 75.0&#xa0;&#xb1;&#xa0;2.6 years, 44.7% had low AAC, 36.4% had moderate AAC and 18.9% had extensive AAC. Over 14.5- years, 150 (15.7%) women had a late-life dementia hospitalisation (n&#xa0;=&#xa0;132) and/or death (n&#xa0;=&#xa0;58). Compared to those with low AAC, women with moderate and extensive AAC were more likely to suffer late-life dementia hospitalisations (9.3%, 15.5%, 18.3%, respectively) and deaths (2.8%, 8.3%, 9.4%, respectively). After adjustment for cardiovascular risk factors and APOE, women with moderate and extensive AAC had twice the relative hazards of late-life dementia (moderate, aHR 2.03 95%CI 1.38-2.97; extensive, aHR 2.10 95%CI 1.33-3.32), compared to women with low AAC. INTERPRETATION: In community-dwelling older women, those with more advanced AAC had higher risk of late-life dementia, independent of cardiovascular risk factors and APOE genotype. Given the widespread use of bone density testing, simultaneously capturing AAC information may be a novel, non-invasive, scalable approach to identify older women at risk of late-life dementia. FUNDING: Kidney Health Australia, Healthway Health Promotion Foundation of Western Australia, Sir Charles Gairdner Hospital Research Advisory Committee Grant, National Health and Medical Research Council of Australia.

AAC, abdominal aortic calcification↗
PubMed1978

[Bone density measurements by computer tomography (author's transl)].

The suitability of the E.M.I. mark I computer scanner for carrying out bone densitometry has been tested, using the forearm. Within the region of interest there was an almost linear relationship between CT densities and the concentration of the bone equivalent substance K2HPO4. By means of a special computer programme, the spongiosa and cortex of both forearm bones could be analysed quantitatively. The reproducibility of the results (coefficient of variation 5%) was similar to that of other procedures in current use. The advantage of the method lies in the fact that it is possible to estimate the spongiosa and cortex separately. Investigations on patients with normal bones have shown that senile demineralisation affects the cortex most severely. On the other hand, in renal osteopathies of chronically dialysed patients, demineralisation in the forearm predominantly involves the spongiosa.

Absorptiometry, Photon↗
PubMed2025

Prevalence and predictors of low bone mineral density in pediatric inflammatory bowel disease.

OBJECTIVES: Bone health is at risk in children with inflammatory bowel disease (IBD). This study examined the prevalence and predictors of low bone mineral density (BMD) in a cohort of children and young adults with IBD. METHODS: This single-center retrospective study included patients with IBD, ages 3.5-22 years, with completed dual x-ray absorptiometry (DXA) scans from 2006 to 2019. Demographic, clinical, and laboratory data were collected. Logistic regression analysis identified predictors associated with low BMD (Z-scores&#x2009;&#x2264;&#x2009;-2 standard deviations [SDs]) for three outcomes. In an overlapping IBD cohort with available genetic data between 2002 and 2019 (n&#x2009;=&#x2009;378), genetic risk for diminished bone health was calculated using published polygenic risk scores generated from genome-wide association studies based on DXA or heel ultrasound speed of sound (SOS). Linear regression analysis examined associations of low BMD and genetic risk. RESULTS: Low BMD prevalence was 7% in our cohort (n&#x2009;=&#x2009;600) based on spine bone mineral apparent density (BMAD), which best accounts for growth delays. Median (interquartile range [IQR]) spine BMAD Z-score was -0.37&#x2009;SD (-1.11 to 0.35). Predictors of low BMAD included lower BMI Z-score (odds ratio [OR]: 0.67, p value: 0.02) and decreased height Z-score (OR: 0.6, p value: 0.005). Of those with longitudinal data (n&#x2009;=&#x2009;118), low BMI (OR: 0.44, p value: <0.001) and steroid use (OR: 3.42, p value: 0.01) were associated with suboptimal bone health (Z-scores&#x2009;&#x2264;&#x2009;-1SD). In the cohort with genetic data, heel genomic SOS (&#x3b2; [standard error] = 0.17 [0.35], p&#x2009;&#x2264;&#x2009;0.01) was associated with BMD. CONCLUSIONS: Lower BMI should prompt DXA monitoring in pediatric IBD. Genetic predisposition may identify an at-risk subpopulation.

Humans↗
PubMed2026

Genetic Evidence Links Sex Hormone-binding Globulin to Total Body Bone Mineral Density at Age 45-60 Years: A Two-sample Mendelian Randomization Study.

The menopausal transition and early postmenopause represent important periods for women's skeletal health, but the genetic relevance of metabolic, behavioral, and hormone-related factors to bone mineral density during midlife remains incompletely understood. This study used publicly available genome-wide association study summary statistics to examine associations between body mass index, 25-hydroxyvitamin D, sex hormone-binding globulin, high-density lipoprotein cholesterol, smoking initiation, and alcohol intake frequency and total body bone mineral density at ages 45-60 years. Exposure genome-wide association study summary statistics were derived from large European-ancestry populations and were not restricted to midlife women, whereas the outcome genome-wide association study captured an age-stratified total body bone mineral density phenotype at age 45-60 years. This age range overlaps with the menopausal transition and early postmenopause in women. Univariable, reverse, and multivariable Mendelian randomization analyses were performed, with inverse-variance weighting as the primary method and complementary sensitivity analyses used to assess heterogeneity, pleiotropy, and result stability. Genetically predicted higher sex hormone-binding globulin was associated with lower total body bone mineral density (&#x3b2; = -0.111, 95% CI: -0.170 to -0.051; P = 0.0003). Reverse Mendelian randomization did not support reverse causation from bone mineral density to sex hormone-binding globulin. Multivariable analyses suggested that this association persisted after adjustment for selected metabolic biomarkers. The other examined exposures did not show consistent evidence of association. These findings provide genetic evidence linking sex hormone-binding globulin to total-body bone mineral density at ages 45-60 years. Further prospective and predictive studies are needed to evaluate its clinical relevance beyond established bone health assessment tools.

Humans↗
PubMed2022

Uric Acid Levels Are Associated with Bone Mineral Density in Mexican Populations: A Longitudinal Study.

Background: Inconsistent epidemiological evidence between uric acid (UA) and bone mineral density (BMD) has been observed. Therefore, we evaluated the association between UA and BMD in Mexican adults. Methods: This analysis was conducted on 1423 participants from the Health Workers Cohort Study. We explored cross-sectional associations using linear regression and longitudinal associations using fixed-effects linear regression by sex and age groups (<45 and &#x2265;45 years). Results: In females <45 years old, the cross-sectional analysis showed that UA levels were positively associated with total hip BMD. However, in the longitudinal analysis, we observed a negative association with the femoral neck and lumbar spine BMD. In contrast, in males <45 years old, we found an increase in total hip and femoral neck BMD in the groups with high levels of UA in the longitudinal association. On the other hand, in females &#x2265;45 years old, we observed a longitudinal association between UA and loss of BMD at different sites. We did not observe an association between UA levels and BMD in males &#x2265;45 years old. Conclusions: Our results suggest higher serum UA levels are associated with low BMD at different skeletal sites in Mexican females. Further studies are needed to delineate the underlying mechanisms behind this observation.

Male↗
PubMed2026

Sex-specific biomarkers predict bone mineral density loss at the contralateral hip after hip fracture.

OBJECTIVE: To identify inflammatory and hormonal biomarkers that predict bone loss at the contralateral (non-fractured) hip following hip fracture in males and females. METHODS: White participants who were not receiving pre-fracture glucocorticoids, sex-hormone therapy, or bone-active medications (100 males, 76 females) with hip fractures. Data were collected within 22&#xa0;days of hip fracture and at 2, 6, and 12&#xa0;months follow-up. Biomarkers were categorized into tertiles: estradiol, 25-hydroxyvitamin D3/D2, intact parathyroid hormone (iPTH), interleukin-1 receptor antagonist (IL-1RA), interleukin-6 (IL-6), insulin-like growth factor-1 (IGF-1), soluble tumor necrosis factor-&#x3b1; receptor 1, sex hormone-binding globulin, and testosterone. Femoral neck bone mineral density (BMD) at the contralateral hip was assessed, and losses exceeding the mean decline were classified as greater than average. Logistic regression models, stratified by sex, were adjusted for confounders and evaluated selected biomarker associations. RESULTS: Among males, the 2nd (OR&#xa0;=&#xa0;4.79, P&#xa0;=&#xa0;0.012) and 3rd (OR&#xa0;=&#xa0;6.36, P&#xa0;=&#xa0;0.005) IGF-1 tertiles were associated with greater odds of BMD loss than the 1st tertile. The 3rd iPTH tertile (OR&#xa0;=&#xa0;3.79, P&#xa0;=&#xa0;0.037) was similarly associated with increased odds. Among females, the 3rd (OR&#xa0;=&#xa0;0.20, P&#xa0;=&#xa0;0.031) IL-1RA tertile was associated with lower odds of BMD loss compared to the 1st tertile, while the 2nd IL-6 tertile (OR&#xa0;=&#xa0;5.99, P&#xa0;=&#xa0;0.036) was associated with higher odds. CONCLUSION: These findings suggest that inflammatory and hormonal biomarkers may be sex-specific predictors of accelerated BMD loss following hip fracture.

Biomarkers↗
PubMed2024

Is there a causal relationship between resistin levels and bone mineral density, fracture occurrence? A mendelian randomization study.

BACKGROUND: In a great many of observational studies, whether there is a relevance of resistin levels on bone mineral density (BMD) and fracture occurrence has been inconsistently reported, and the causality is unclear. METHODS: We aim to assess the resistin levels on BMD and fracture occurrence within a Mendelian randomization (MR) analysis. Exposure and outcome data were derived from the Integrative Epidemiology Unit (IEU) Open genome wide association studies (GWAS) database. Screening of instrumental variables (IVs) was performed subject to conditions of relevance, exclusivity, and independence. Inverse variance weighting (IVW) was our primary method for MR analysis based on harmonized data. Weighted median and MR-Egger were chosen to evaluate the robustness of the results of IVW. Simultaneously, heterogeneity and horizontal pleiotropy were also assessed and the direction of potential causality was detected by MR Steiger. Multivariable MR (MVMR) analysis was used to identify whether confounding factors affected the reliability of the results. RESULTS: After Bonferroni correction, the results showed a suggestively positive causality between resistin levels and total body BMD (TB-BMD) in European populations over the age of 60 [&#x3b2;(95%CI): 0.093(0.021, 0.165), P = 0.011]. The weighted median [&#x3b2;(95%CI): 0.111(0.067, 0.213), P = 0.035] and MR-Egger [&#x3b2;(95%CI): 0.162(0.025, 0.2983), P = 0.040] results demonstrate the robustness of the IVW results. No presence of pleiotropy or heterogeneity was detected between them. MR Steiger supports the causal inference result and MVMR suggests its direct effect. CONCLUSIONS: In European population older than 60 years, genetically predicted higher levels of resistin were associated with higher TB-BMD. A significant causality between resistin levels on BMD at different sites, fracture in certain parts of the body, and BMD in four different age groups between 0-60 years of age was not found in our study.

Bone Density↗
PubMed2025

Association between lean mass, fat mass, and waist circumference with bone mineral density in Mexican children and adolescents: a cross-sectional study.

To assess the associations of lean mass (LM), fat mass (FM), truncal fat mass (TFM), and waist circumference (WC) with bone mineral density (BMD) in Mexican youth, independently of body weight.&#xa0;We analyzed cross-sectional data from 1,054 children and adolescents from the Health Workers Cohort Study. We measured total and region-specific BMD, LM, and FM, with dual-energy X-ray absorptiometry. To eliminate the effect of body weight on FM, LM, TFM, and WC, weight-adjusted values were generated using the residuals method, and then we employed multivariate linear regression models adjusted for relevant potential confounders. We further stratified the analysis by sex, age group, and sexual maturation.&#xa0;LM was positively associated with BMD in various anatomical sites, with &#x3b2; coefficients ranging from 0.004 to 0.013 in both sexes (P&#x2009;<&#x2009;0.05). FM was inversely related to total BMD and other sites, with &#x3b2; coefficients ranging from -0.013 to -0.006 (P&#x2009;<&#x2009;0.05). WC showed negative associations with BMD at some sites, with &#x3b2; values ranging from -0.007 to -0.002. TFM was negatively associated with BMD. During puberty, the associations were consistent across all sites, whereas this was not the case for all sites after puberty. These patterns were similarly observed across different age groups.Conclusion:&#xa0;An increased LM and reduced FM are associated with higher BMD, particularly in the leg and hip regions, during childhood and adolescence, a critical developmental stage essential for healthy bone accrual and balance in adulthood.

Humans↗
PubMed2025

Targeted Gene Sequencing in a Male Adult Diagnosed With X-Linked Osteoporosis Due to a Novel p.(Arg398Profs*2) PLS3 Variant.

Pathogenic loss-of-function variants in the plastin-3 gene (PLS3), encoding plastin-3 protein, are associated with early-onset X-linked osteoporosis. We present the case of a young adult male patient, with a history of multiple fragility fractures and blue sclerae, who was clinically diagnosed with osteogenesis imperfecta (OI) type 1 in childhood. He has been managed with intravenous bisphosphonate therapy, leading to an increase in bone density at the spine, stable bone density at the femoral neck, and a period free of fractures while on antiresorptive therapy. Two decades later, with a focus on reproductive family planning, a novel PLS3 variant was identified on genetic testing. This case report highlights an important role for genetic testing in patients with early-onset osteoporosis or a clinical diagnosis of OI. With the emergence of new targeted therapeutics and advanced reproductive options, such as preimplantation genetic testing, obtaining an accurate molecular diagnosis is key.

PLS3↗