OBJECTIVETo investigate the association of vitamin D receptor (VDR) gene polymorphisms with low bone mineral density (BMD) in adolescent idiopathic scoliosis (AIS) girls.

METHODSBlood samples were obtained from 146 AIS girls and 146 healthy girls. Anthropometric parameters of AIS group including age, body height, weight and Cobb angle were all recorded. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to detect and analyze VDR gene distributions of AIS group and control group. BMD of the lumbar spine (L(1)-L(4)) and proximal femur were measured using dual energy x-ray absorptiometry in AIS group.

RESULTSThe frequency of Bb genotype was significantly higher in patients than that in controls (P < 0.05). There was no distinction among the lumbar spine and proximal femur BMD of each genotype in AIS group (P > 0.05).

CONCLUSIONVDR gene polymorphisms have no association with the low spine lumbar and proximal femur BMD in AIS girls.

Adolescent ; Bone Density ; genetics ; Child ; Female ; Genotype ; Humans ; Polymorphism, Genetic ; Receptors, Calcitriol ; genetics ; Scoliosis ; genetics ; physiopathology

The modeling and remodeling process of the bone is fundamental to maintaining its integrity and mechanical properties. Many physical and biochemical factors during childhood and adolescence are crucially important for the development of healthy bones. Systemic conditions, such as hormonal status, nutrition, physical inactivity, or many pharmacological treatments, as well as a local variation in the load, can influence bone turnover and, consequently, the attainment of a proper peak bone mass. However, many diseases affecting children and adolescents can be associated with a reduction in bone accrual or a loss of bone mass and quality, which leads to an increased risk of fracture over one's life. In this review, we examine the effects of genetics, physical activity, chronic diseases and pharmacological treatments, and dietary factors on bone integrity in children and adolescents. We also briefly describe the specific tools that are currently used in assessing bone health.
Adolescent* ; Bone Density ; Bone Remodeling ; Child* ; Chronic Disease ; Genetics ; Humans ; Miners* ; Motor Activity ; Nutritional Status

A case of SNX10 gene mutation in a patient with infantile malignant osteopetrosis (IMO) was admitted to Department of Pediatrics, Third Xiangya Hospital, Central South University. The patient had the symptom of anemia, hepatosplenomegaly and growth retardation. The X-ray examination suggested extensive increase of bone density throughout the body, which was clinically diagnosed as IMO. The homozygous mutation of SNX10 gene c.61C>T was found via gene sequencing. We reviewed the relevant literatures and found that anemia, visual and hearing impairment, hepatosplenomegaly are the main clinical symptoms of IMO, SNX10 gene mutation is a rare cause of IMO, and hematopoietic stem cell transplantation is an effective treatment.
Bone Density ; Child ; Hematopoietic Stem Cell Transplantation ; Humans ; Mutation ; Osteopetrosis/genetics* ; Sorting Nexins/genetics*

Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by bone fragility, frequent fractures, and low bone mass. Dominantly inherited COL1A1 or COL1A2 mutations appear to be causative in the majority of OI types, but rare recessively inherited genes have also been reported. Recently, SERPINF1 has been reported as another causative gene in OI type VI. To date, only eight SERPINF1 mutations have been reported and all are homozygous. Our patient showed no abnormalities at birth, frequent fractures, osteopenia, and poor response on pamidronate therapy. At the time of her most recent evaluation, she was 8 yr old, and could not walk independently due to frequent lower-extremity fractures, resulting in severe deformity. No clinical signs were seen of hearing impairment, blue sclera, or dentinogenesis imperfecta. In this study, we describe the clinical and radiological findings of one Korean patient with novel compound heterozygous mutations (c.77dupC and c.421dupC) of SERPINF1.
Bone Density/genetics ; Child ; Collagen Type I/genetics ; Eye Proteins/*genetics ; Female ; Fractures, Bone/genetics ; Humans ; Nerve Growth Factors/*genetics ; Osteogenesis Imperfecta/diagnosis/*genetics ; Serpins/*genetics

Osteoporotic fracture is the most destructive ending of osteoporosis, many interacting risk factors play a role in its occurrence. With age, the bodies function decline gradually. Symptoms like soreness of the waist, back pain, cramp of the lower limb and weakness appears. These are related to TCM syndrome factors like kidney deficiency, liver deficiency, spleen deficiency and blood stagnation. Symptoms can act as a warning of the occurrence of osteoporotic fracture in the early stages. The risk assessment tool of osteoporotic fracture is mostly developed on the basis of modern risk factors and thus lacks syndrome differentiation, that may limit its utilization. If the relevant content of syndrome differentiation is integrated into the forecasting tool and a risk assessment tool of osteoporotic fracture which complies with the demographics of China is built up, population risk assessment for high of risk could be established and scientific evidence for the adoption of effective interventions could be applied.
Bone Density ; China ; epidemiology ; Humans ; Osteoporotic Fractures ; epidemiology ; genetics ; metabolism ; physiopathology ; Risk Assessment ; Risk Factors

OBJECTIVE: To explore and verify the genes related to female peak bone mass(PBM) and osteoporosis (OP) based on bioinformatics. METHODS: Using GEO data, DNA microarray technology to conduct genome-wide analysis of adult female monocytes with high and low PBM. Cluster analysis, GO enrichment and KEGG analysis were used to analyze the differential genes, and the interaction network of differential genes was further analyzed. OP rat model was established and femur neck tissue staining was performed to further verify the expression of differential genes. RESULTS: A total of 283 genes were obtained by differential gene screening. Compared with the high PBM samples, 135 genes were up-regulated and 148 genes were down-regulated in the low PBM samples. A total of 7 pathways and 12 differential genes were enriched, and there were differences in the expression of several genes involved in mineral absorption and transport, cellular immunity and other aspects. Among them, voltage-gated Ca²⁺ channel 1.3(CaV1.3) encoded by CACNA1D gene was significantly enhanced in the femoral neck tissue of OP rat model. CONCLUSION The above results suggest that the difference in the expression level of CaV1.3 gene may lead to the occurrence of OP in women with low PBM, which provides us with a potential target for the prevention and treatment of OP.
Adult ; Female ; Humans ; Animals ; Rats ; Osteoporosis/genetics* ; Bone Density ; Computational Biology ; Femur Neck ; Staining and Labeling

PURPOSE: Genetic factor is an important predisposing element influencing the susceptibility to osteoporosis and related complications. The purpose of the present study is to investigate whether genetic polymorphisms of farnesyl diphosphate synthase (FDPS) or geranylgeranyl diphosphate synthase (GGPS) genes were associated with the response to bisphosphonate therapy. MATERIALS AND METHODS: In the present study, 144 Korean women with osteoporosis were included. Among 13 genetic polymorphisms found within the FDPS and GGPS1 gene, 4 genetic polymorphisms with frequencies > 5% were selected for further study. Bone mineral density (BMD) response after 1 year treatment of bisphosphonate therapy was analyzed according to the genotypes. RESULTS: Women with 2 deletion allele of GGPS1 -8188A ins/del (rs3840452) had significantly higher femoral neck BMD at baseline compared with those with one or no deletion allele (0.768 +/- 0.127 vs. 0.695 +/- 0.090 respectively; p = 0.041). The response rate of women with 2 deletion allele of GGPS1 -8188A ins/del (28.6%) was significantly lower than the rate of women with one (81.4%) or no deletion allele (75.0%) (p = 0.011). Women with 2 deletion allele of GGPS1 -8188A ins/del had 7-fold higher risk of non-response to bisphosphonate therapy compared with women with other genotypes in GGPS1 -8188 after adjusting for baseline BMD (OR = 7.48; 95% CI = 1.32-42.30; p = 0.023). Other polymorphisms in FDPS or GGPS1 were not associated with lumbar spine BMD or femoral neck BMD. CONCLUSION: Our study suggested that GGPS1 - 8188A ins/del polymorphism may confer susceptibility to femoral neck BMD response to bisphosphonate therapy in Korean women. However, further study should be done to confirm the results in a larger population.
Aged ; Asian Continental Ancestry Group ; Bone Density/*drug effects/*genetics ; Bone Density Conservation Agents/*pharmacology ; Dimethylallyltranstransferase/*genetics ; Diphosphonates/*pharmacology ; Farnesyltranstransferase/*genetics ; Female ; Geranyltranstransferase/*genetics ; Humans ; Middle Aged ; Polymorphism, Genetic/*genetics

The prevalence of chronic diseases including osteoporosis and sarcopenia increases as the population ages. Osteoporosis and sarcopenia are commonly associated with genetics, mechanical factors, and hormonal factors and primarily associated with aging. Many older populations, particularly those with frailty, are likely to have concurrent osteoporosis and sarcopenia, further increasing their risk of disease-related complications. Because bones and muscles are closely interconnected by anatomy, metabolic profile, and chemical components, a diagnosis should be considered for both sarcopenia and osteoporosis, which may be treated with optimal therapeutic interventions eliciting pleiotropic effects on both bones and muscles. Exercise training has been recommended as a promising therapeutic strategy to encounter the loss of bone and muscle mass due to osteosarcopenia. To stimulate the osteogenic effects for bone mass accretion, bone tissues must be exposed to mechanical load exceeding those experienced during daily living activities. Of the several exercise training programs, resistance exercise (RE) is known to be highly beneficial for the preservation of bone and muscle mass. This review summarizes the mechanisms of RE for the preservation of bone and muscle mass and supports the clinical evidences for the use of RE as a therapeutic option in osteosarcopenia.
Activities of Daily Living ; Aging ; Bone and Bones ; Bone Density ; Chronic Disease ; Diagnosis ; Education ; Genetics ; Metabolome ; Muscle Strength ; Muscles ; Osteoporosis ; Prevalence ; Sarcopenia

Vitamin K is the cofactor for the hepatic carboxylation of glutamic acid residues in a number of proteins including the procoagulants factors ll, Vll, lX, and X. The role of vitamin K in normal bone function is not fully understood. Inherited deficiency of vitamin K dependent coagulation factors is a rare bleeding disorder reported only in a few patients. Here we present an 18-month old child who presented with osteopeni due to inherited vitamin K deficiency. While the patient had high bone specific alkaline phosphatase and parathyroid hormone levels and low osteocalcin and bone mineral density values, with the regular supplementation of vitamin K all the mentioned parameters returned to normal values.
Bone Density ; Bone Diseases, Metabolic/etiology ; Human ; Infant ; Male ; Osteocalcin/blood ; Prothrombin Time ; Vitamin K Deficiency/blood/complications/*genetics

Animals ; Bone Density ; Bone and Bones ; metabolism ; Calcium ; metabolism ; Genetic Predisposition to Disease ; Humans ; Osteoporosis ; genetics ; Polymorphism, Genetic ; Receptors, Calcitriol ; genetics ; Rickets ; etiology ; genetics