scholarly journals Genome Screen for QTLs Contributing to Normal Variation in Bone Mineral Density and Osteoporosis*

2000 ◽  
Vol 85 (9) ◽  
pp. 3116-3120 ◽  
Author(s):  
D. L. Koller ◽  
M. J. Econs ◽  
P. A. Morin ◽  
J. C. Christian ◽  
S. L. Hui ◽  
...  

Abstract A major determinant of the risk for osteoporosis is peak bone mineral density (BMD), which is largely determined by genetic factors. We recently reported linkage of peak BMD in a large sample of healthy sister pairs to chromosome 11q12–13. To identify additional loci underlying normal variations in peak BMD, we conducted an autosomal genome screen in 429 Caucasian sister pairs. Multipoint LOD scores were computed for BMD at four skeletal sites. Chromosomal regions with LOD scores above 1.85 were further pursued in an expanded sample of 595 sister pairs (464 Caucasians and 131 African-Americans). The highest LOD score attained in the expanded sample was 3.86 at chromosome 1q21–23 with lumbar spine BMD. Chromosome 5q33–35 gave a LOD score of 2.23 with femoral neck BMD. At chromosome 6p11–12, the 464 Caucasian pairs achieved a LOD score of 2.13 with lumbar spine BMD. Markers within the 11q12–13 region continued to support linkage to femoral neck BMD, although the peak LOD score was decreased to 2.16 in the sample of 595 sibling pairs. Our study is the largest genome screen to date for genes underlying variations in peak BMD and represents an important step toward identifying genes contributing to osteoporosis in the general population.

Author(s):  
Shanshan Xue ◽  
Yuzheng Zhang ◽  
Wenjing Qiao ◽  
Qianqian Zhao ◽  
Dingjie Guo ◽  
...  

Abstract Context Bone mineral density (BMD) T-score reference may be updated when the peak BMD of the population is unclear and may need to be updated. Objective To update BMD T-score references using the peak BMD from the most recent National Health and Nutrition Examination Survey (NHANES) data. Design Cross-sectional study. Setting The NHANES 2005-2014. Participants Non-Hispanic white females between the ages 10-40 years (N=1549) were our target population to estimate peak BMD (SD). Individuals aged≥50 years (N=5523) were used to compare the percentages of osteoporosis and low bone mass based on existing and updated BMD T-score references. Main Outcome Measurements: BMD data within the age at attainment of peak BMD±5 years were used to calculate updated BMD T-score references. Results The updated average of BMD (SD) for diagnosing osteoporosis at the femoral neck and lumbar spine were 0.888 g/cm 2 (0.121 g/cm 2) and 1.065 g/cm 2 (0.122 g/cm 2), respectively. The percentages of individuals with osteoporosis at the femoral neck and low bone mass at the femoral neck and lumbar spine based on the updated BMD T-score references were higher than the percentages of people designated with these outcomes under the existing guidelines (P<0.001). However, we observed the opposite pattern for lumbar spine osteoporosis (P<0.001). Conclusions We calculated new BMD T-score references at the femoral neck and lumbar spine. We found significant differences in the percentages of individuals classified as having osteoporosis and low bone mass between the updated and existing BMD T-score references.


1997 ◽  
Vol 01 (01) ◽  
pp. 41-46 ◽  
Author(s):  
Soon Tai Lee ◽  
James Cho Hong Goh ◽  
Siew Leng Low ◽  
Kamal Bose

169 men and 267 women aged 20 to 69 years had bone mineral density measured in the lumbar spine and femoral neck by dual energy X-ray absorptiometry (DXA). The male subjects were significantly taller and heavier than the female subjects. However, there was no significant difference in body mass indexes of males and females. In males, the regression of age on lumbar spine and femoral neck BMD was linear, with peak BMD attained in the 20–29 age group. In females, peak BMD occurred in the age group 30–39 years. The regression of BMD with age in females was best fit by a cubic regression curve. There was no difference in peak spine BMD (1.176 ± 0.121 g/cm2 for males versus 1.221 ± 0.129 g/cm2 for females; p < 0.01). However, males were found to have significantly higher peak BMD in the femoral neck (1.052 ± 0.119 g/cm2 for males versus 0.949 ± 0.108 g/cm2 for females; p < 0.01). When our data was compared to the reference database from the American and Japanese populations, it was found that Chinese women in Singapore and American women had similar BMD values and both groups had significantly higher BMD than the Japanese in both the lumbar spine and femoral neck.


2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1757.2-1757
Author(s):  
T. Raskina ◽  
I. Grigoreva ◽  
J. Averkieva ◽  
A. Kokov ◽  
V. Masenko

Objectives:To examine bone mineral density (BMD) in men with coronary heart disease (CHD), depending on the state of the muscle mass, strength and function.Methods:79 men aged over 50 years with verified CHD were examined (mean age 63 (57; 66) years).The BMD and T-criterion (standart deviation, SD) of the femoral neck and lumbar spine (L1-L4) were evaluated using dual-energy x-ray absorptiometry (DXA) on the Lunar Prodigy Primo bone densitometer (USA). The following reference intervals were used: normal BMD values (T-criterion ≥-1), osteopenia (OPe) (T-criterion from -1 to -2.5), and osteoporosis (OP) (T-criterion <-2.5).To assess muscle mass, the total area (cm2) of the lumbar muscles of the axial section at the level of the 3rd lumbar vertebra (L3) was determined using multispiral computed tomography on a 64-slice computer tomograph “Somatom Sensation 64” (Siemens AG Medical Solution, Germany). The ratio of the obtained index of the area of skeletal muscle to the square of the patient’s growth index determined the “ skeletalmuscular index L3” (SMI). The media considered the threshold value to be 52.4 cm2/m2.Results:The femoral neck BMD in the examined patients was 0.96 (0.89; 1.03) g/cm2, which corresponds to -0.50 (-1.00; 0) SD according to the T-criterion, in the lumbar spine -1.23 (1.11; 1.32) g/cm2and 0.4 (-0.50; 1.20) SD according to the T-criterion.In accordance with the recommendations of the European working group on sarcopenia in Older people (EWGSOP, 2010, 2018), the patients were divided into 3 groups: 31 patients without sarcopenia (group 1), 21 patients with isolated muscle loss (presarcopenia) (group 2) and 27 patients with sarcopenia (group 3).BMD in the femoral neck in the group of patients without sarcopenia was 0.96 (0.72; 1.26) g/cm2, which corresponds to -0.50 (-0.8; 0.2) SD according to the T-criterion, in the lumbar spine – 1.19 (1.10; 1.275) g/cm2and 0.1 (-0.6; 0.8) SD according to the T-criterion. BMD in the femoral neck in the group of patients with presarcopenia (group 2) – 0.995 (0.94; 1.04) g/cm2and -0.3 (-0.70; 0) SD according to the T-criterion, in the lumbar spine – 1.32 (1.24; 1.40) g/cm2and 1.20 (0.50; 1.90) SD according to the T-criterion. In patients with established sarcopenia (group 3), the following indicators of BMD and T-criterion were recorded: 0.95 (0.845; 0.98) g/cm2and -0.60 (-1.40; -0.40) SD and 1.23 (0.085; 1.31) g/cm2and 0.4 (-0.8; 1.1) SD in the femoral neck and lumbar spine, respectively.A comparative analysis of the results of the DXA found that patients with sarcopenia had a significant decrease in the BMD and T-criterion in the femoral neck compared to patients with presarcopenia (p=0.039 and p=0.040, respectively). There were no differences between the groups of patients without sarcopenia and with sarcopenia and presarcopenia (p>0.05).It was found that patients with sarcopenia had significantly lower BMD and T-criterion in the lumbar spine compared to patients with presarcopenia (p=0.017 and p=0.0165, respectively). The values of the BMD and T-criterion in the groups of patients without sarcopenia and with presarcopenia and sarcopenia in the lumbar spine were comparable (p>0.05).Conclusion:The presence of sarcopenia is associated with loss of BMD in the femoral neck and in the lumbar spine. The results obtained confirm the high probability of common pathogenetic links between OP and sarcopenia.Disclosure of Interests:None declared


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Stefana Catalina Bilha ◽  
Letitia Leustean ◽  
Cristina Preda ◽  
Dumitru D. Branisteanu ◽  
Laura Mihalache ◽  
...  

Abstract Background Despite the increased fracture risk, bone mineral density (BMD) is variable in type 1 (T1D) and type 2 (T2D) diabetes mellitus. We aimed at comparing independent BMD predictors in T1D, T2D and control subjects, respectively. Methods Cross-sectional case-control study enrolling 30 T1D, 39 T2D and 69 age, sex and body mass index (BMI) – matched controls that underwent clinical examination, dual-energy X-ray absorptiometry (BMD at the lumbar spine and femoral neck) and serum determination of HbA1c and parameters of calcium and phosphate metabolism. Results T2D patients had similar BMD compared to T1D individuals (after adjusting for age, BMI and disease duration) and to matched controls, respectively. In multiple regression analysis, diabetes duration – but not HbA1c- negatively predicted femoral neck BMD in T1D (β= -0.39, p = 0.014), while BMI was a positive predictor for lumbar spine (β = 0.46, p = 0.006) and femoral neck BMD (β = 0.44, p = 0.007) in T2D, besides gender influence. Age negatively predicted BMD in controls, but not in patients with diabetes. Conclusions Long-standing diabetes and female gender particularly increase the risk for low bone mass in T1D. An increased body weight partially hinders BMD loss in T2D. The impact of age appears to be surpassed by that of other bone regulating factors in both T1D and T2D patients.


2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Serap Zengin Karahan ◽  
Cavit Boz ◽  
Sevgi Kilic ◽  
Nuray Can Usta ◽  
Mehmet Ozmenoglu ◽  
...  

Multiple sclerosis (MS) has been associated with reduced bone mineral density (BMD). The purpose of this study was to determine the possible factors affecting BMD in patients with MS. We included consecutive 155 patients with MS and 90 age- and sex-matched control subjects. Patients with MS exhibited significantly lowerT-scores andZ-scores in the femoral neck and trochanter compared to the controls. Ninety-four (61%) patients had reduced bone mass in either the lumbar spine or the femoral neck; of these, 64 (41.3%) had osteopenia and 30 (19.4%) had osteoporosis. The main factors affecting BMD were disability, duration of MS, and smoking. There was a negative relationship between femoral BMD and EDSS and disease duration. No association with lumbar BMD was determined. There were no correlations between BMD at any anatomic region and cumulative corticosteroid dose. BMD is significantly lower in patients with MS than in healthy controls. Reduced BMD in MS is mainly associated with disability and duration of the disease. Short courses of high dose steroid therapy did not result in an obvious negative impact on BMD in the lumbar spine and femoral neck in patients with MS.


PEDIATRICS ◽  
1993 ◽  
Vol 91 (6) ◽  
pp. 1127-1130
Author(s):  
Antero Kotaniemi ◽  
Anneli Savolainen ◽  
Hannu Kautiainen ◽  
Heikki Kröger

Study objective. To investigate the degree and determinants of osteopenia in juvenile chronic polyarthritis. Design. Retrospective case-control study of central bone mineral density. Setting. Rheumatism Foundation Hospital and Kuopio University Hospital, Finland. Subjects. A sample of 43 girls aged 7 to 19 with juvenile chronic polyarthritis treated with systemic glucocorticoids and a control sample of 44 healthy girls matched for age. Main outcome measures. Bone mineral density and bone size (width) measured by dual-energy x-ray absorptiometry and bone volumetric density calculated as an approximation of true bone density at both the lumbar spine and femoral neck. Results. The girls with juvenile chronic arthritis had reduced bone mineral density, bone size, and bone volumetric density at both the lumbar spine and femoral neck (statistically significant findings, P = .022 for the bone size of the femoral neck and P &lt; .001 for the other parameters). At the spine, the mean bone mineral density was 80%, the mean bone size 89%, and the mean bone volumetric density 89% of the values in the control group. At the femoral neck, the values were 78%, 93%, and 83%, respectively. The groups were matched for age, but the girls with arthritis were smaller and lighter. In the juvenile arthritis group, the femoral bone mineral density and bone volumetric density and the spinal bone width correlated negatively with the mean glucocorticoid dose. Conclusion. Axial bone mineral density is clearly reduced in severe juvenile polyarthritis and is mediated by both decreased bone volumetric density and diminished growth.


2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Yasumoto Matsui ◽  
Marie Takemura ◽  
Atsushi Harada ◽  
Fujiko Ando ◽  
Hiroshi Shimokata

Bone mineral density (aBMD) is equivalent to bone mineral content (BMC) divided by area. We rechecked the significance of aBMD changes in aging by examining BMC and area separately. Subjects were 1167 community-dwelling Japanese men and women, aged 40–79 years. ABMDs of femoral neck and lumbar spine were assessed by DXA twice, at 6-year intervals. The change rates of BMC and area, as well as aBMD, were calculated and described separately by the age stratum and by sex. In the femoral neck region, aBMDs were significantly decreased in all age strata by an increase in area as well as BMC loss in the same pattern in both sexes. In the lumbar spine region, aBMDs decreased until the age of 60 in women, caused by the significant BMC decrease accompanying the small area change. Very differently in men, aBMDs increased after their 50s due to BMC increase, accompanied by an area increase. Separate analyses of BMC and area change revealed that the significance of aBMD changes in aging was very divergent among sites and between sexes. This may explain in part the dissociation of aBMD change and bone strength, suggesting that we should be more cautious when interpreting the meaning of aBMD change.


2019 ◽  
Vol 105 (3) ◽  
pp. e619-e627 ◽  
Author(s):  
Yin-Pan Chau ◽  
Philip C M Au ◽  
Gloria H Y Li ◽  
Chor-Wing Sing ◽  
Vincent K F Cheng ◽  
...  

Abstract Background Inconsistent associations between coffee consumption and bone mineral density (BMD) have been observed in epidemiological studies. Moreover, the relationship of bioactive components in coffee with BMD has not been studied. The aim of the current study is to identify coffee-associated metabolites and evaluate their association with BMD. Methods Two independent cohorts totaling 564 healthy community-dwelling adults from the Hong Kong Osteoporosis Study (HKOS) who visited in 2001–2010 (N = 329) and 2015–2016 (N = 235) were included. Coffee consumption was self-reported in an food frequency questionnaire. Untargeted metabolomic profiling on fasting serum samples was performed using liquid chromatography–mass spectrometry platforms. BMD at lumbar spine and femoral neck was measured by dual-energy X-ray absorptiometry. Multivariable linear regression and robust regression were used for the association analyses. Results 12 serum metabolites were positively correlated with coffee consumption after Bonferroni correction for multiple testing (P &lt; 4.87 × 10–5), with quinate, 3-hydroxypyridine sulfate, and trigonelline (N’-methylnicotinate) showing the strongest association. Among these metabolites, 11 known metabolites were previously identified to be associated with coffee intake and 6 of them were related to caffeine metabolism. Habitual coffee intake was positively and significantly associated with BMD at the lumbar spine and femoral neck. The metabolite 5-acetylamino-6-formylamino-3-methyluracil (AFMU) (β = 0.012, SE = 0.005; P = 0.013) was significantly associated with BMD at the lumbar spine, whereas 3-hydroxyhippurate (β = 0.007, SE = 0.003, P = 0.027) and trigonelline (β = 0.007, SE = 0.004; P = 0.043) were significantly associated with BMD at the femoral neck. Conclusions 12 metabolites were significantly associated with coffee intake, including 6 caffeine metabolites. Three of them (AFMU, 3-hydroxyhippurate, and trigonelline) were further associated with BMD. These metabolites could be potential biomarkers of coffee consumption and affect bone health.


2020 ◽  
Vol 150 (5) ◽  
pp. 1266-1271 ◽  
Author(s):  
Nena Karavasiloglou ◽  
Eliska Selinger ◽  
Jan Gojda ◽  
Sabine Rohrmann ◽  
Tilman Kühn

ABSTRACT Background Persons following plant-based diets have lower bone mineral density (BMD) and higher fracture risk, possibly due to suboptimal nutrient supply. However, anthropometric measures were not considered as potential confounders in many previous studies, and body mass index (BMI) is positively associated with BMD but also generally lower among vegans and vegetarians. Objectives Our objective was to investigate if BMD measurements differ between vegetarians and nonvegetarians from the adult general population when accounting for important determinants of BMD, especially BMI and waist circumference. Methods Using data from the NHANES (cycles 2007–2008 and 2009–2010), we evaluated the differences in BMD (femoral neck, total femoral, and total lumbar spine) between adult vegetarians and nonvegetarians. Linear regression models were used to determine the associations between BMD and diet. Statistical models were adjusted for important factors, i.e., age, sex, race/ethnicity, smoking status, alcohol consumption, serum vitamin D and calcium concentrations, waist circumference, and BMI. Results In statistical models adjusted for age, sex, race/ethnicity, menopausal status, and education level, BMD values were significantly lower among vegetarians than among nonvegetarians (P &lt; 0.001). These differences were attenuated upon adjustment for lifestyle factors, and became statistically nonsignificant upon adjustment for anthropometric variables (BMI and waist circumference) for femoral neck (0.77 compared with 0.79 g/cm2 among vegetarians versus nonvegetarians, P = 0.10) and total femoral BMD (0.88 compared with 0.90 g/cm2, P = 0.12). A small but statistically significant difference remained for total lumbar spine BMD (1.01 compared with 1.04 g/cm2, P = 0.005). Conclusions These findings suggest that lower BMD among adult vegetarians is in larger parts explained by lower BMI and waist circumference.


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