Hip Axis Length Changes in 10,554 Males and Females and the Association with Femoral Neck Fracture

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Aim:To investigate the effect of low-density lipoprotein receptor-related protein 5 (LRP5) gene polymorphisms on bone and obesity phenotypes in young Chinese men. Methods: A total of 1244 subjects from 411 Chinese nuclear families were genotyped by using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique at the Q89R, N740N, and A1330V sites in the LRP5 gene. Bone mineral density (BMD) in the lumbar spine and the hip, total fat mass and total lean mass were measured using dual-energy X-ray absorptiometry. The association between LRP5 gene polymorphisms and peak BMD, body mass index (BMI), total fat mass, total lean mass and percentage of fat mass was assessed using a quantitative transmission disequilibrium test (QTDT). Results: No significant within-family associations were found between genotypes or haplotypes of the LRP5 gene and peak BMD, BMI, total fat mass, total lean mass and percentage of fat mass. The 1000 permutations that were subsequently simulated were in agreement with these within-family association results. Conclusion: Our results suggest that common polymorphic variations of the LRP5 gene do not influence peak bone mass acquisition and obesity phenotypes in young Chinese men.

Section: Phenotype Measurementsmentioning

confidence: 88%

No association between LRP5 gene polymorphisms and bone and obesity phenotypes in Chinese male-offspring nuclear families

et al. 2010

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“…The coefficient of variability (CV) values were obtained from 15 volunteers with 3 measurements each. The respective CV values for the BMD of the lumbar spine 1-4, total hip, femoral neck, and trochanter were 1.39%, 0.70%, 2.22%, and 1.41% [1,[13][14][15] . The respective CV values for the fat mass measurements at the upper limbs, lower limbs, trunk, and total body were 7.58%, 3.28%, 2.52%, and 3.72%; the CV values for the lean mass at these sites were 1.18%, 1.59%, 1.12%, and 1.18%, respectively [15] .…”

Section: Subjectsmentioning

confidence: 92%

“…The respective CV values for the fat mass measurements at the upper limbs, lower limbs, trunk, and total body were 7.58%, 3.28%, 2.52%, and 3.72%; the CV values for the lean mass at these sites were 1.18%, 1.59%, 1.12%, and 1.18%, respectively [15] . The long-term precision (expressed as the CV of our DXA instrument, as was determined by daily measurements of a phantom) was 0.45% during the study period [1,14,15] .…”

Section: Subjectsmentioning

confidence: 98%

Contribution of Myostatin gene polymorphisms to normal variation in lean mass, fat mass and peak BMD in Chinese male offspring

Yue

Zhang

et al. 2012

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Aim: Myostatin gene is a member of the transforming growth factor-β (TGF-β) family that negatively regulates skeletal muscle growth. Genetic polymorphisms in Myostatin were found to be associated with the peak bone mineral density (BMD) in Chinese women. The purpose of this study was to investigate whether Myostatin played a role in the normal variation in peak BMD, lean mass (LM), and fat mass (FM) of Chinese men. Methods: Four hundred male-offspring nuclear families of Chinese Han ethnic group were recruited. Anthropometric measurements, including the peak BMD, body LM and FM were measured using dual-energy X-ray absorptiometry (DXA). The single nucleotide polymorphisms (SNPs) studied were tag-SNPs selected by sequencing. Both rs2293284 and +2278G﹥A were genotyped using TaqMan assay, and rs3791783 was genotyped with PCR-restriction fragment length polymorphism (RFLP) analysis. The associations of the SNPs with anthropometric variations were analyzed using the quantitative transmission disequilibrium test (QTDT). Results: Using QTDT to detect within-family associations, neither single SNP nor haplotype was found to be associated with peak BMD at any bone site. However, rs3791783 was found to be significantly associated with fat mass of the trunk (P<0.001). Moreover, for within-family associations, haplotypes AGG, AAA, and TGG were found to be significantly associated with the trunk fat mass (all P<0.001). Conclusion: Our results suggest that genetic variation within Myostatin may play a role in regulating the variation in fat mass in Chinese males. Additionally, the Myostatin gene may be a candidate that determines body fat mass in Chinese men.

“…Both of the scanners were calibrated daily, and the coefficient of variability (CV) values for the DXA measurements at L1-4, the total hip, and the femoral neck were 0.9%, 0.8%, and 1.93%, respectively, for the Hologic QDR 2000 [26] and 1.39%, 0.7%, and 2.22%, respectively, for the Lunar Prodigy [27] . The long-term reproducibility of the DXA Sequencing analysis of the COL1A1 and COL1A2 genes Genomic DNA was isolated from peripheral blood leukocytes using conventional methods.…”

Section: Bmd Measurementsmentioning

confidence: 99%

No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women

Zhang

Wang

et al. 2011

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Aim: To study whether genetic polymorphisms of COL1A1 and COL1A2 genes affected the onset of fracture in postmenopausal Chinese women. Methods: SNPs in COL1A1 and COL1A2 genes were identified via direct sequencing in 32 unrelated postmenopausal Chinese women. Ten SNPs were genotyped in 1252 postmenopausal Chinese women. The associations were examined using both single-SNP and haplotype tests using logistic regression. Results: Twenty four (4 novel) and 28 (7 novel) SNPs were identified in COL1A1 and COL1A2 gene, respectively. The distribution frequencies of 2 SNPs in COL1A1 (rs2075554 and rs2586494) and 3 SNPs in COL1A2 (rs42517, rs1801182, and rs42524) were significantly different from those documented for the European Caucasian population. No significant difference was observed between fracture and control groups with respect to allele frequency or genotype distribution in 9 selected SNPs and haplotype. No significant association was found between fragility fracture and each SNP or haplotype. The results remained the same after additional corrections for other risk factors such as weight, height, and bone mineral density. Conclusion: Our results show no association between common genetic variations of COL1A1 and COL1A2 genes and fracture, suggesting the complex genetic background of osteoporotic fractures.