Publications (33)66.1 Total impact
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Article: A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome.
Joint, bone, spine: revue du rhumatisme 04/2013; · 2.25 Impact Factor -
Article: Association of single nucleotide polymorphism Rs2236518 in PRDM16 gene with BMI in Chinese males.
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ABSTRACT: Aim:PRD1-BF-1-RIZ1 homologous domain containing protein-16 (PRDM16) is a cell-autonomous transcriptional component that stimulates the development of brown fat cells. The aim of this study was to investigate the contribution of genetic variants of PRDM16 to obesity-related phenotype variations in Chinese.Methods:A total of 3204 subjects (consisting of 400 male-offspring nuclear families, 401 female-offspring nuclear families, and 729 unrelated older males) were recruited. Ten tag single nucleotide polymorphisms (SNPs) within the PRDM16 gene were genotyped using multiplex quantitative real-time PCR by Taqman assay. Body compositions were measured by dual-energy X-ray absorptiometry (DXA). The associations of the SNPs with the obesity-related phenotypes were analyzed using the quantitative transmission disequilibrium test (QTDT), GLM-ANOVA and PLINK statistical methods.Results:Rs2236518 was the only SNP that was associated with BMI in young (aged 20-40 years) males (P=0.011) using QTDT, and in the older men (aged 50-80 years) (P=0.003) using GLM-ANOVA. No significant associations were detected in the females. Nor was a relationship found between any haplotype and obesity-related phenotypes. When PLINK was used, no significant relationship was detected between 10 SNPs and obesity-related phenotypes in any of the studied cohorts.Conclusion:Rs2236518 is associated with BMI in the young males (using QTDT), and the older males (using GLM-ANOVA).However, the result is not confirmed using PLINK. The discrepancy needs to be further addressed.Acta Pharmacologica Sinica 03/2013; · 1.95 Impact Factor -
Article: Establishing reference intervals for bone turnover markers in the healthy shanghai population and the relationship with bone mineral density in postmenopausal women.
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ABSTRACT: The reference ranges of bone turnover markers (BTMs) were important during the treatment of osteoporosis, and the associations with bone mineral density (BMD) were controversial. The aim of this study was to establish the reference ranges of N-terminal procollagen of type l collagen (P1NP), osteocalcin (OC), and beta C-terminal cross-linked telopeptides of type I collagen ( β -CTX) in Shanghai area and to investigate the relationships between BTMs and BMD in postmenopausal women. 2,799 subjects recruited in Shanghai City were measured BTMs to establish the reference ranges. Additional 520 healthy postmenopausal women were also measured BTMs, these women measured BMD in addition. BTMs were measured using the Roche electrochemiluminescence system. We used the age range of 35 to 45-year-olds to calculate reference intervals. The reference range of OC was 4.91 to 13.90 ng/mL for women and 5.58 to 16.57 ng/mL for men, P1NP was 13.72 to 32.90 ng/mL for women and 16.89 to 42.43 ng/mL for men, and β -CTX was 0.112 to 0.210 ng/mL for women and 0.100 to 0.378 ng/mL for men. BTMs significantly negatively correlated with lumbar spine and femoral and total hip in postmenopausal women (Betastd = -0.157 ~ -0.217, P < 0.001). We established the normal reference ranges of P1NP, OC, and β -CTX in the Shanghai area. This study also found that BTMs correlated with BMD and suggested that BTMs were the key determining factors of early BMD decreases.International Journal of Endocrinology 01/2013; 2013:513925. · 1.87 Impact Factor -
Article: The A242T Mutation in the Low-density Lipoprotein Receptor-related Protein 5 Gene in One Chinese Family with Osteosclerosis.
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ABSTRACT: Objective Osteosclerosis (OMIM: 144750) is a type of autosomal dominant bone disease caused by a mutation in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. The case of a Chinese family with two affected individuals is reported in the present study in order to investigate the clinical characteristics and virulence genes of this sclerosing bone disorder. Methods Biochemical and radiographic examinations and bone mineral density (BMD) and genetic analyses were performed in two patients and eight other family members. Results The 40-year-old proband (II-1) and her 64-year-old mother (I-2) both had chronic lumbodorsal pain, an elongated mandible and torus palatinus in the center of the hard palate. No fractures were observed in any of the family members. Skull, mandibular and pelvic X-rays in each of the two patients revealed thickened cranial plates, an enlarged sella turcica, an elongated mandible and cortical thickening of the long bones. The BMD values of the two patients was significantly higher than the standard age- and sex-matched adult mean reference values. Both patients had higher serum sclerostin levels, while their renal function markers and serum calcium, phosphonium, parathyroid hormone (PTH) and 25(OH)D levels were within the normal ranges. The heterozygous missense mutation p.Ala242Thr in exon 4 of the LRP5 gene was detected in the two patients, while the other family members and 200 healthy donors had normal wild-type genotypes. Conclusion The A242T mutation in the LRP5 gene resulted in a high bone mass phenotype with an elongated mandible and torus palatinus in this osteosclerotic family.Internal Medicine 01/2013; 52(2):187-92. · 0.94 Impact Factor -
Article: Susceptibility genes for osteoporotic fracture in postmenopausal Chinese women.
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ABSTRACT: To identify the susceptibility genes for osteoporotic fracture in postmenopausal Chinese women, a two-stage case-control association study using joint analysis was conducted in 1,046 patients with non-traumatic vertebra, hip or distal radius fractures and 2,303 healthy controls. First, 113 single nucleotide polymorphisms (SNPs) in 16 potential osteoporosis candidate genes reported in recent genome-wide association studies, meta-analyses studies, large-scale association studies and functional studies were genotyped in a small-sample-size subgroup consisting of 541 patients with osteoporotic fractures and 554 healthy controls. Variants and haplotypes in SPTBN1, TNFRSF11B, CNR2, LRP4 and ESR1 that have been identified as being associated with osteoporotic fractures were further re-analyzed in the entire case-control group. We identified that one SNP in TNFRSF11B (rs3102734), three SNPs in ESR1 (rs9397448, rs2234693 and rs1643821), two SNPs in LRP4 (rs17790156 and rs898604) and four SNPs in SPTBN1 (rs2971886, rs2941583, rs2941584 and rs12475342) were associated with all of the broadly defined osteoporotic fractures. The most significant polymorphism was rs3102734, with increased risk of osteoporotic fractures (odds ratio: 1.35, 95% CI: 1.17-1.55, Bonferroni p = 2.6 × 10(-4) ). Furthermore, rs3102734, rs2941584, rs12475342, rs9397448, rs2234693 and rs898604 exhibited significant allelic, genotypic and/or haplotypic associations with vertebral fractures. SNPs rs12475342, rs9397448 and rs2234693 showed significant genotypic associations with hip fractures, while rs3102734, rs2073617, rs1643821, rs12475342 and rs2971886 exhibited significant genotypic and/or haplotypic associations with distal radius fractures. Accordingly, we suggest that in addition to the clinical risk factors, the variants in TNFRSF11B, SPTBN1, ESR1 and LRP4 are susceptibility genetic loci for osteoporotic fracture in postmenopausal Chinese women. © 2012 American Society for Bone and Mineral Research.Journal of bone and mineral research: the official journal of the American Society for Bone and Mineral Research 07/2012; · 6.04 Impact Factor -
Article: Lean Mass Predicts Hip Geometry and Bone Mineral Density in Chinese Men and Women and Age Comparisons of Body Composition.
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ABSTRACT: Previous studies have suggested that changes in hip geometry increase the risk of hip fracture. The aim of this study was to identify whether body composition were associated with hip geometry or bone mineral density (BMD) in a large sample of Chinese people. A total of 2072 subjects aged 20-79yr (including 700 males and 1372 females) were selected. The following measurements were taken: lumbar spine (L1-4); proximal femur BMD; lean mass (LM); fat mass (FM); and hip geometric parameters, including hip axis length (HAL), cross-sectional moment of inertia (CSMI), cross-sectional area (CSA), neck-shaft angle, and femur strength index (SI) by dual-energy X-ray absorptiometry. FM and LM were positively correlated with HAL, CSMI, and CSA, and negatively correlated with SI in both men and women. Multiple regression analysis showed that leg LM contributions to HAL, CSMI, and CSA variance were 12.6-37.6%. Compared with FM, LM was generally more strongly related to hip geometry and BMD in young and old men and women. Body composition was a good predictor for hip geometry parameter variation and BMD variation.Journal of Clinical Densitometry 04/2012; · 1.29 Impact Factor -
Article: Thirteen Chinese patients with sporadic Paget's disease of bone: clinical features, SQSTM1 mutation identification, and functional analysis.
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ABSTRACT: To increase awareness of the rarity of Paget's disease of bone (PDB) in the Chinese population, we characterized the clinical manifestations and features of 13 Chinese sporadic PDB patients. The clinical features of our Chinese PDB patients show similarities with cases reported in Western countries. The most common lesion sites were the pelvis, femur, and tibia; the next most common lesion sites were the spine and skull. Most patients had a higher serum alkaline phosphatase (ALP) level. Treatment with bisphosphonates was effective. In addition, we screened for PDB-causing mutations and performed a functional analysis in an attempt to elucidate the molecular pathogenesis of PDB. A total of 216 persons, including 13 sporadic PDB patients, three unaffected relatives of 1 patient, and 200 healthy donors, were recruited. All eight exons and exon-intron boundaries of the SQSTM1 gene were amplified by polymerase chain reaction (PCR) and directly sequenced. We identified a 53-year-old man who harbored a heterozygous T-to-C transversion at position 1250 in exon 8 (1250T > C), which resulted in a methionine-to-threonine (ATG > ACG) substitution at codon 404 (M404T). The M404T mutant SQSTM1 protein exhibited increased NF-κB activation and drove a significantly increased number of osteoclast-like cells (OLCs) that formed in response to RANKL and an increased number of OLC nuclei. This is the first report of an SQSTM1 genetic mutation that contributes to the pathogenesis of PDB in Chinese patients. These results may partially explain the mechanism by which this SQSTM1 mutation contributes to the pathogenesis of sporadic PDB in Chinese patients.Journal of Bone and Mineral Metabolism 04/2012; 30(5):525-33. · 2.27 Impact Factor -
Article: Contribution of myostatin gene polymorphisms to normal variation in lean mass, fat mass and peak BMD in Chinese male offspring.
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ABSTRACT: 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. 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 +2278GA 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). 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). 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.Acta Pharmacologica Sinica 03/2012; 33(5):660-7. · 1.95 Impact Factor -
Article: Comparison of the effects of cholecalciferol and calcitriol on calcium metabolism and bone turnover in Chinese postmenopausal women with vitamin D insufficiency.
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ABSTRACT: To compare the effects of cholecalciferol (800 IU/d) and calcitriol (0.25 μg/d) on calcium metabolism and bone turnover in Chinese postmenopausal women with vitamin D insufficiency. One hundred Chinese postmenopausal women aged 63.8±7.0 years and with serum 25-hydroxyvitamin D [25(OH)D] concentration <30 ng/mL were recruited. The subjects were divided into 2 groups based on the age and serum 25(OH)D concentration: 50 subjects (group A) received cholecalciferol (800 IU/d), and 50 subjects (group B) received calcitriol (0.25 μg/d) for 3 months. In addition, all the subjects received Caltrate D (calcium plus 125 IU cholecalciferol) daily in the form of one pill. The markers of calcium metabolism and bone turnover, including the serum levels of calcium, phosphorus, alkaline phosphatase, intact parathyroid hormone, 25(OH)D and β-CrossLaps of type I collagen containing cross-linked C-telopeptide (β-CTX), were measured before and after the intervention. After the 3-month intervention, the serum 25(OH)D concentration in group A was significantly increased from 16.01 ± 5.0 to 20.02 ± 4.5 ng/mL, while that in group B had no significant change. The serum calcium levels in both the groups were significantly increased (group A: from 2.36 ± 0.1 to 2.45 ± 0.1 mmol/L; group B: from 2.36 ± 0.1 to 2.44 ± 0.1 mmol/L). The levels of serum intact parathyroid hormone in both the groups were significantly decreased (group A: from 48.56 ± 12.8 to 39.59 ± 12.6 pg/mL; group B: from 53.67 ± 20.0 to 40.32 ± 15.4 pg/mL). The serum levels of β-CTX in both the groups were also significantly decreased (group A: from 373.93 ± 135.3 to 325.04 ± 149.0 ng/L; group B: from 431.00 ± 137.1 to 371.74 ± 185.0 ng/L). Conclusion: We concluded that both cholecalciferol (800 IU/d) and calcitriol (0.25 μg/d) plus Caltrate D modifies the serum calcium and bone turnover markers in Chinese postmenopausal women with vitamin D insufficiency. In addition, cholecalciferol (800 IU/d) significantly increased the serum 25(OH)D concentration.Acta Pharmacologica Sinica 03/2012; 33(4):490-5. · 1.95 Impact Factor -
Article: Association of ALOX15 gene polymorphisms with obesity-related phenotypes in Chinese nuclear families with male offspring.
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ABSTRACT: Genetic variation in ALOX12, which encoded human 12-lipoxygenase, was found to be associated with fat mass in young Chinese men. The objective of this study was to investigate the relationship between single nucleotide polymorphisms (SNPs) and haplotypes in the ALOX15 gene and obesity-related phenotypes in Chinese nuclear families with male offspring. We recruited 1,296 subjects from 427 nuclear families with male offspring and genotyped five SNPs (rs9894225, rs748694, rs2619112, rs2619118, and rs916055) in the ALOX15 gene locus. The total fat mass (TFM), trunk fat mass (tFM), leg fat mass (LFM) and arm fat mass (AFM) were measured using dual-energy X-ray absorptiometry (DXA). The percentage of fat mass (PFM) was the ratio of TFM and body weight. The association between SNPs and haplotypes of ALOX15 and obesity-related phenotypic variation was measured using quantitative transmission disequilibrium test (QTDT). Using QTDT to measure family-based genetic association, we found that rs916055 had a statistically significant association with PFM (P=0.038), whereas rs916055 had a marginal but statistically insignificant association with tFM (P=0.093). The multiple-parameter 1000 permutations test agreed with the family-based association results: both showed that rs916055 had a statistically significant association with PFM (P=0.033). rs916055 in ALOX15 gene was significantly associated with the percentage of fat mass in Chinese nuclear families with male offspring in the family-based association study using QTDT approach.Acta Pharmacologica Sinica 02/2012; 33(2):201-7. · 1.95 Impact Factor -
Article: Identification of the mutations in the tissue-nonspecific alkaline phosphatase gene in two Chinese families with hypophosphatasia.
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ABSTRACT: Hypophosphatasia is a genetic disorder characterized by defective bone and tooth mineralization and a deficiency of serum and bone alkaline phosphatase activity. To date, few studies have identified gene mutations in Chinese patients with hypophosphatasia. We sought to characterize the clinical manifestations and identify the mutations associated with the disease in Chinese hypophosphatasia patients. All 12 exons and the exon-intron boundaries of the ALPL gene were amplified and directly sequenced in two probands from unrelated Chinese families. The mutation sites were identified in other unaffected members of these two families and 100 healthy controls. In family 1, the proband displayed one novel splice site mutation, c.298-1G>A, which consisted of a homozygous G>A transition at nucleotide 298-1 in intron 4. The proband's mother displayed the heterozygous G/A ALPL gene mutation, but her father was identified as G/G homozygous. A paternity test ruled out false paternity and therefore confirmed that this splicing mutation occurred de novo either in the paternal germline or in the early development of the patient. In family 2, the proband revealed a novel missense mutation (c.1271T>C) in exon 11, which resulted in p.Val424Ala in the mature ALPL polypeptide. Furthermore, c.298-1G>A and c.1271T>C mutations were not found in unaffected family members of these two Chinese families and 100 unrelated controls. Our study shows that the novel de novo splicing mutation c.298-1G>A in intron 4 and the missense mutation c.1271T>C in exon 11 of the ALPL gene are responsible for hypophosphatasia in some Chinese patients.Archives of medical research 01/2012; 43(1):21-30. · 1.88 Impact Factor -
Article: The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.
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ABSTRACT: Osteopetrosis is a heritable bone disorder resulting from a deficiency of or a functional defect in osteoclasts. We aimed to characterize the molecular defects and clinical manifestations in Chinese patients with osteopetrosis by studying 12 unrelated osteopetrosis families. The entire coding region and adjacent splice sites of the CLCN7, TCIRG1, LRP5 and SOST genes were amplified and directly sequenced. X-rays of hip and lumbar spine, bone mineral density and bone turnover markers were examined simultaneously. Family history and fracture history were collected using a questionnaire. Among 12 unrelated families, 10 families were diagnosed with autosomal dominant osteopetrosis type II (ADOII) with 10 probands and 3 affected subjects. Two individuals in the other two families were diagnosed with uncategorized osteopetrosis because no mutations were detected in any of the four studied genes. Eight mutations, including two reported mutations (R767W and E798FS) and six novel mutations (E313K, A316G, R743W, G741R, W127G and S290F), were detected in the CLCN7 gene from 12 living ADOII patients. Among them, R767W and R743W mutations were two common mutations that were each found in 20% of 10 ADOII probands. In CLCN7-related ADOII patients, long bone fractures and elevated serum CK level were two major clinical phenotypes, especially in patients younger than 18 years. Further functional studies of the above eight mutations in the CLCN7 gene are needed in the future.Journal of Bone and Mineral Metabolism 09/2011; 30(3):338-48. · 2.27 Impact Factor -
Article: The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.
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ABSTRACT: Dominant inheritance of osteogenesis imperfecta (OI) is caused by mutations in COL1A1 or COL1A2, the genes that encode type I collagen, and CRTAP, LEPRE1, PPIB, FKBP10, SERPINH1, and SP7 mutations were recently detected in a minority of patients with autosomal recessive OI. However, these findings have been mostly restricted to Western populations. The proportion of mutations and the correlations between genotype and phenotype in Chinese patients with OI are completely unknown. In this study, mutation analyses were performed for COL1A1, COL1A2, CRTAP, and LEPRE1 in a cohort of 58 unrelated Chinese patients with OI; the relationship between collagen type I mutations and clinical features was examined. A total of 56 heterozygous mutations were identified in COL1A1 and COL1A2, including 43 mutations in COL1A1 and 13 mutations in COL1A2. Among the 56 causative COL1A1 and COL1A2 mutations, 24 novel mutations were found, and 25 (44.6%) resulted in the substitution of a glycine within the Gly-X-Y triplet domain of the triple helix. Compared with COL1A1 haploinsufficiency (n = 23), patients with mutations affecting glycine residues had a severe skeletal phenotype. In patients 18 years of age or older, on average patients with COL1A1 haploinsufficiency were taller and had higher femoral neck bone mineral density than with patients with helical mutations. Interestingly, we found two novel compound heterozygous mutations in the LEPRE1 gene in two unrelated families with autosomal recessive OI. Although the genotype-phenotype correlation is still unclear, our findings are useful to understand the genetic basis of Chinese patients with OI.Journal of Bone and Mineral Metabolism 06/2011; 30(1):69-77. · 2.27 Impact Factor -
Article: No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women.
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ABSTRACT: 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.Acta Pharmacologica Sinica 05/2011; 32(7):947-55. · 1.95 Impact Factor -
Article: No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women
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ABSTRACT: Aim: To study whether genetic polymorphisms of COL1A1 and COL1A2 genes affected the onset of fracture in postmenopausal Chinese women.Acta Pharmacologica Sinica 05/2011; 32(7):947-955. · 1.95 Impact Factor -
Article: Contribution of the sclerostin domain-containing protein 1 (SOSTDC1) gene to normal variation of peak bone mineral density in Chinese women and men.
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ABSTRACT: A genome-wide linkage analysis in Chinese families revealed a significant quantitative trait loci on chromosome 7p21.1 for femoral neck bone mineral density (BMD) (LOD = 3.68), and a potential candidate gene, sclerostin domain-containing protein 1 (SOSTDC1), is located in this region. SOSTDC1 belongs to a class of bone morphogenetic protein (BMP) antagonists that bind BMPs and regulate their signaling. We therefore genotyped 6 tag single nucleotide polymorphisms (tag-SNPs) in SOSTDC1 gene using allele-specific PCR method and investigated the association between SOSTDC1 gene polymorphisms and peak BMD variation in 401 Chinese female-offspring nuclear families (including 1260 subjects) and 400 Chinese male-offspring nuclear families (including 1215 subjects), respectively. Using both family-based (quantitative transmission disequilibrium test) and population-based (ANOVA) methods of analyses, BMD values were adjusted for age, height and weight. In female-offspring nuclear families, we found a significant within family association between rs16878759 and the lumbar spine peak BMD (P = 0.003) and rs16878759 accounted for 1.4% of the lumbar spine peak BMD variation. Moreover, haplotype CCC (containing rs12699800, rs16878759, and rs17619769) had a significant within family association with the lumbar spine peak BMD (P = 0.001) and accounted for 1.9% of the peak BMD variation at this bone site. However, in the male-offspring nuclear families, we failed to detect any significant association between any SNP or haplotype and peak BMD at any bone site. In conclusion, our results indicate for the first time that the genetic polymorphisms in SOSTDC1 have an effect on attainment and maintenance of peak bone mass in Chinese women.Journal of Bone and Mineral Metabolism 01/2011; 29(5):571-81. · 2.27 Impact Factor -
Article: Association between low density lipoprotein receptor-related protein 2 gene polymorphisms and bone mineral density variation in Chinese population.
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ABSTRACT: Low density lipoprotein receptor-related protein 2 gene (LRP2) is located next to the genomic region showing suggestive linkage with both hip and wrist bone mineral density (BMD) phenotypes. LRP2 knockout mice showed severe vitamin D deficiency and bone disease, indicating the involvement of LRP2 in the preservation of vitamin D metabolites and delivery of the precursor to the kidney for the generation of 1α,25(OH)(2)D(3). In order to investigate the contribution of LRP2 gene polymorphisms to the variation of BMD in Chinese population, a total of 330 Chinese female-offspring nuclear families with 1088 individuals and 400 Chinese male-offspring nuclear families with 1215 individuals were genotyped at six tagSNPs of the LRP2 gene (rs2389557, rs2544381, rs7600336, rs10210408, rs2075252 and rs4667591). BMD values at the lumbar spine 1-4 (L1-4) and hip sites were measured by DXA. The association between LRP2 polymorphisms and BMD phenotypes was assessed by quantitative transmission disequilibrium tests (QTDTs) in female- and male-offspring nuclear families separately. In the female-offspring nuclear families, rs2075252 and haplotype GA of rs4667591 and rs2075252 were identified in the nominally significant total association with peak BMD at L1-4; however, no significant within-family association was found between peak BMD at the L1-4 and hip sites and six tagSNPs or haplotypes. In male-offspring nuclear families, neither the six tagSNPs nor the haplotypes was in total association or within-family association with the peak BMD variation at the L1-4 and hip sites by QTDT analysis. Our findings suggested that the polymorphisms of LRP2 gene is not a major factor that contributes to the peak BMD variation in Chinese population.PLoS ONE 01/2011; 6(12):e28874. · 4.09 Impact Factor -
Article: No association between LRP5 gene polymorphisms and bone and obesity phenotypes in Chinese male-offspring nuclear families.
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ABSTRACT: To investigate the effect of low-density lipoprotein receptor-related protein 5 (LRP5) gene polymorphisms on bone and obesity phenotypes in young Chinese men. 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). 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. 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.Acta Pharmacologica Sinica 11/2010; 31(11):1464-9. · 1.95 Impact Factor -
Article: No association between LRP5 gene polymorphisms and bone and obesity phenotypes in Chinese male-offspring nuclear families
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ABSTRACT: 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.Acta Pharmacologica Sinica 10/2010; 31(11):1464-1469. · 1.95 Impact Factor -
Article: Polymorphisms in the HOXD4 gene are not associated with peak bone mineral density in Chinese nuclear families.
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ABSTRACT: To determine the associations between HOXD4 gene polymorphisms with peak bone mineral density (BMD) throughing measuring three tagging single nucleotide polymorphisms (tagSNPs), including rs1867863, rs13418078, and rs4972504, in HOXD4. Four hundred Chinese nuclear families with male offspring (1215 subjects) and 401 Chinese nuclear families with female offspring (1260 subjects) were recruited. BMD of the lumbar spine 1-4 (L1-4) and left proximal femur including total hip and femoral neck were measured by dual-energy X-ray absorptiometry. The quantitative transmission disequilibrium test (QTDT) was performed to investigate the association among the tagging SNPs, haplotypes and peak BMD. Only the CC genotype was identified in rs13418078 in the Chinese population, unlike other populations. We failed to find significant within-family association among these SNPs, haplotypes and peak BMD at any bone site in either male- or female-offspring nuclear families. The results suggest that genetic polymorphisms in HOXD4 may not be a major contributor to the observed variability in peak BMD in the lumbar spine and the hip in Chinese men and women.Acta Pharmacologica Sinica 08/2010; 31(8):977-83. · 1.95 Impact Factor
Top co-authors
Top Journals
Institutions
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2010–2013
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Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine
Shanghai, Shanghai Shi, China
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2007–2013
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Shanghai Jiao Tong University
- Department of Pediatrics (Sixth People's Hospital)
Shanghai, Shanghai Shi, China
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2006–2012
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Shanghai University
Shanghai, Shanghai Shi, China
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2008
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University of Texas Health Science Center at San Antonio
- Division of Hospital Medicine
San Antonio, TX, USA
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