Key Laboratory of Endocrinology

Beijing, China

Key Laboratory of Endocrinology

Beijing, China
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Cai M.,Chinese Institute of Clinical Medicine | Lin J.-L.,Key Laboratory of Endocrinology | Hou J.-M.,Key Laboratory of Endocrinology | Tang F.-Q.,Fujian Provincial Hospital | Jin L.,Fujian Provincial Hospital
Acta Anatomica Sinica | Year: 2016

Objective: To investigate the expression of osteoblasts bone sialoprotein(BSP) and evolutionary trace. The mature peptide gene sequences were analyzed to obtain BSP modification sites. Methods: Total RNA was isolated from cultured osteobalsts and desired cDNA fragment was obtained by RT-PCR with two gene specific primers. The segment was inserted into pBluescript KS vector and the result plasmid was transformed into DH5α. The positive clone and sequence were performed. Using BSP as seed sequences, the searching of BSP gene sequence and its homologous protein with various bioinformatics tools were retrieved from NCBI database. The comparative studies were taken for BSP evolutionary trace sites and related functional sites. Results: There was a complete structural domain of 72 homologous protein sequences, 16 bone sialoprotein family BSP-propeptide domain, 10 RGD binding domain and the BSP domain 33 subfamily specific residues. The ligand of bone sialoprotein RGD domain binding sites was mainly distributed in the middle region with pockets. 900bp specific fragment was obtained. The sequence of the gene encoding BSP mature pepide coincided with that of the references published. Conclusion: The gene encoding BSP mature peptide is obtained from osteoblasts that express and translate into active bone sialoprotein. There are methylation and acetylation sites existed on the BSP mature peptide. This result will help us to further investigate the expression and function of BSP.


Wang X.,Key Laboratory of Endocrinology | Li W.,Key Laboratory of Endocrinology | Ma L.,Peking Union Medical College | Ping F.,Key Laboratory of Endocrinology | And 4 more authors.
Journal of Gene Medicine | Year: 2017

Background: Dyslipidemia during pregnancy increases the risk of complications of pregnancy. Lipid profiles have a strong genetic determinant and numerous susceptibility loci have been identified. However, very few studies have focused on the association of lipid-related loci and maternal serum lipids during pregnancy. For the first time, we investigated the association of common variants in three maturity onset diabetes of the young (MODY) genes (HNF1A, HNF4A and HNF1B) with serum lipid concentrations and glucose metabolism related quantitative traits in the second trimester of pregnancy. Methods: A total of 1797 unrelated Han Chinese pregnant women were included. Three variants in 3′-UTR were selected and genotyped using TaqMan allelic discrimination assays. Multiple linear regression adjusted for age and body mass index was applied for analysis. Results: We found that T allele of rs1169309 in MODY3-HNF1A gene was significantly associated with increased levels of total cholesterol [β = 0.123 (0.057–0.189); p = 2.7 × 10−4] and LDL-C [β = 0.075 (0.018–0.132); p = 1.0 × 10−2]. Rs1169309-TT genotype carriers exhibited with higher levels of apolipoprotein A1 (p = 4.2 × 10−2) and ApoB (p = 6.0 × 10−3). In addition, correlations between minor C allele of HNF1B-rs2688 and decreased levels of HOMA-B (p = 1.4 × 10−2), fasting insulin (p = 2.7 × 10−2) and HOMA-IR (p = 3.8 × 10−2) were identified. The minor C allele of HNF4A-rs6130615 was marginally associated with decreased fasting insulin levels (p = 0.050) and HOMA-IR (p = 0.048). Conclusions: Variants in MODY genes playe a critical role in lipid and glucose homeostasis. Future studies will be required to further clarify the molecular mechanisms underlying these observed associations. Copyright © 2017 John Wiley & Sons, Ltd.


Kung A.W.C.,University of Hong Kong | Xiao S.-M.,University of Hong Kong | Cherny S.,University of Hong Kong | Li G.H.Y.,University of Hong Kong | And 35 more authors.
American Journal of Human Genetics | Year: 2010

Bone mineral density (BMD), a diagnostic parameter for osteoporosis and a clinical predictor of fracture, is a polygenic trait with high heritability. To identify genetic variants that influence BMD in different ethnic groups, we performed a genome-wide association study (GWAS) on 800 unrelated Southern Chinese women with extreme BMD and carried out follow-up replication studies in six independent study populations of European descent and Asian populations including 18,098 subjects. In the meta-analysis, rs2273061 of the Jagged1 (JAG1) gene was associated with high BMD (p = 5.27 × 10-8 for lumbar spine [LS] and p = 4.15 × 10-5 for femoral neck [FN], n = 18,898). This SNP was further found to be associated with the low risk of osteoporotic fracture (p = 0.009, OR = 0.7, 95% CI 0.57-0.93, n = 1881). Region-wide and haplotype analysis showed that the strongest association evidence was from the linkage disequilibrium block 5, which included rs2273061 of the JAG1 gene (p = 8.52 × 10-9 for LS and 3.47 × 10-5 at FN). To assess the function of identified variants, an electrophoretic mobility shift assay demonstrated the binding of c-Myc to the "G" but not "A" allele of rs2273061. A mRNA expression study in both human bone-derived cells and peripheral blood mononuclear cells confirmed association of the high BMD-related allele G of rs2273061 with higher JAG1 expression. Our results identify the JAG1 gene as a candidate for BMD regulation in different ethnic groups, and it is a potential key factor for fracture pathogenesis. © 2010 The American Society of Human Genetics.


Duan L.,Key Laboratory of Endocrinology
Journal of Craniofacial Surgery | Year: 2017

ABSTRACT: Prolactinomas account for ∼40% of all pituitary adenomas and are important causes of infertility and gonadal dysfunction. In general, most prolactinomas are treated medically with dopaminergic agonists, while surgery is reserved for patients intolerant or nonresponsive to these medications. The aim of this study was to carry out a comparative analysis of the cost-effectiveness of medical therapy with bromocriptine and surgical therapy with trans-sphenoidal surgery. A Markov model was developed based on retrospective data from 126 patients with prolactinoma treated in our hospital between October 2008 and May 2009, and from data published previously. For patients with microadenoma, the cost of medical treatment was estimated to be ¥20,555, while the cost of surgery was calculated to be ¥22,527. For patients with macroadenoma, the cost of therapy with bromocriptine was ¥31,461 in males and ¥27,178 in females, while the cost of surgery was ¥42,357 in males and ¥44,094 in females. Sensitivity analyses (carried our using variations in patient age, bromocriptine therapeutic dose, bromocriptine maintenance dose, and the success rate of bromocriptine withdrawal) indicated that our model showed good stability, although our results were most heavily influenced by variations in the bromocriptine maintenance dose. It is concluded that, from an economic viewpoint, medical therapy with bromocriptine should be the first-line treatment option for patients with prolactinoma, irrespective of whether this is a microadenoma or macroadenoma. © 2017 by Mutaz B. Habal, MD.


Zhang Z.,Shanghai JiaoTong University | Xia W.,Key Laboratory of Endocrinology | He J.,Shanghai JiaoTong University | Ke Y.,Shanghai JiaoTong University | And 9 more authors.
American Journal of Human Genetics | Year: 2012

By using whole-exome sequencing, we identified a homozygous guanine-to-adenine transition at the invariant -1 position of the acceptor site of intron 1 (c.97-1G>A) in solute carrier organic anion transporter family member 2A1 (SLCO2A1), which encodes a prostaglandin transporter protein, as the causative mutation in a single individual with primary hypertrophic osteoarthropathy (PHO) from a consanguineous family. In two other affected individuals with PHO from two unrelated nonconsanguineous families, we identified two different compound heterozygous mutations by using Sanger sequencing. These findings confirm that SLCO2A1 mutations inactivate prostaglandin E2 (PGE2) transport, and they indicate that mutations in SLCO2A1 are the pathogenic cause of PHO. Moreover, this study might also help to explain the cause of secondary hypertrophic osteoarthropathy. © 2012 The American Society of Human Genetics.


Li N.S.,Peking Union Medical College | Li N.S.,Key Laboratory of Endocrinology
Science China Life Sciences | Year: 2011

Editorial comment Translational medicine is a new discipline which aims to eliminate the barrier between preclinical and clinical medicine. Here, Dr. Li discusses the application of translational medicine in the research, teaching and clinical work of Prof. Liu Shih-Hao, the founder of endocrinology in China, who was particularly renowned for his early work in calcium and phosphorus metabolism. This well-known success story can be traced back to an early appreciation of translational medicine by Prof. Liu Shih-Hao, and serves as an important and revelatory lesson for us all. © 2011 Science China Press and Springer-Verlag Berlin Heidelberg.


Wang O.,Key laboratory of Endocrinology | Wang C.,Key laboratory of Endocrinology | Nie M.,Key laboratory of Endocrinology | Cui Q.,Peking Union Medical College | And 6 more authors.
PLoS ONE | Year: 2012

Objective: It is widely recognized that the diagnosis of parathyroid carcinoma (PC) is often difficult because of the overlap of characteristics between malignant and benign parathyroid tumors, especially at an early stage. Based on the identification of tumor suppressor gene HRPT2/CDC73 and its association with hereditary and sporadic PC, screening of gene mutations and detection of parafibromin immunoreactivity have been suggested as diagnostic instruments of PC in Whites. There is little information about HRPT2/CDC73 mutations and its corresponding protein expression in patients with sporadic PC in Chinese population, and the long-term follow-up data is scarce. Methods: Paraffin-embedded tissues were obtained from 13 patients with PC, 13 patients with parathyroid adenoma (PA) and 7 patients with parathyroid hyperplasia(PH), and 6 normal parathyroid (NP) tissues as controls. Peripheral blood from 11 patients with PC was collected. PCR products using Genomic DNA extracted from tumor tissues or blood as template was sequenced for HRPT2/CDC73 gene. Expression of parafibromin in tumor tissues was evaluated by immunohistochemical analysis. Results: Six mutations in 6 of 13 patients with PC were identified, with three being novel. Four of them were germ-line mutations. Patients with mutations were susceptible to recurrence of the PC. Complete (8/13, 61.5%) or partial (5/13, 38.5%) loss of parafibromin expression was observed in PC tissues. All of tissue samples from normal parathyroid or benign parathyroid tumors displayed positive immunostaining of parafibromin except one adenoma. Conclusions: The present study supplies information on the mutations and protein expression of HRPT2/CDC73 gene and phenotypes of parathyroid carcinoma in Chinese population. And the expanded mutation database of this gene may benefit patients in the diagnosis and treatment of this disease. © 2012 Wang et al.


Wu X.,Key Laboratory of Endocrinology | Zhou Q.,Key Laboratory of Endocrinology | Mao J.,Key Laboratory of Endocrinology | Lu S.,Key Laboratory of Endocrinology | Nie M.,Key Laboratory of Endocrinology
Fertility and Sterility | Year: 2010

Objective: To show mutational analysis for androgen insensitivity syndrome (AIS)-associated male pseudohermaphroditism (MPH). Design: Case report. Setting: Key laboratory of endocrinology at a university hospital. Patient(s): Four unrelated Chinese patients with MPH referred to our clinic were investigated in this study. Intervention(s): Genomic DNA was extracted from peripheral blood leukocytes, and coding sequence abnormalities of androgen receptor (AR) gene were assessed by polymerase chain reaction and direct sequencing analysis. Main Outcome Measure(s): Molecular characterization of the AR gene. Result(s): Four mutations (p.P913R, p.D732 N, p.N848 K, fs879X, and p.R608 K) in the AR gene were identified in our study. The p.P913R mutation in the AR gene has not been described previously. Conclusion(s): Our study identified a novel mutation in the AR gene that may provide us new insights into the molecular mechanisms of AIS. The expanded database of these mutations should benefit patients in the diagnosis and treatment of this syndrome. © 2010 American Society for Reproductive Medicine.


Wang X.,Key Laboratory of Endocrinology | Nie M.,Key Laboratory of Endocrinology | Lu L.,Key Laboratory of Endocrinology | Tong A.,Key Laboratory of Endocrinology | And 2 more authors.
Steroids | Year: 2015

Steroid 11β-hydroxylase deficiency (11β-OHD), one of common cause of congenital adrenal hyperplasia (CAH), is an autosomal recessive disorder characterized by virilization, precocious pseudo-puberty, and hypertension. It is caused by CYP11B1 gene mutation. We performed molecular genetic analysis of the CYP11B1 gene in six patients with preliminary clinical diagnosis of 11β-OHD and four patients identified as potential 11β-OHD from a CAH cohort in which CYP21A2 gene mutations consecutively screened. Seven novel CYP11B1 mutations, including p.R454H, p.Q472P, p.Q155X, p.K173X, IVS2-1G>A, R454A fs 573X, and g.2704-g.3154del, and six previously described mutations (p.P94L, p.G267S, p.G379V, p.R448H, p.R454C and p.R141X) were identified. These mutations mainly clustered in exons 3 and 8. Eight of twenty alleles carried mutations occurring at the Arg454 position, which is a mutational hot spot for Han Chinese. The pathogenic nature of novel p.R454H mutation was predicted by protein sequence alignment and in silico analysis. All the identified mutations were responsible for the clinical features observed in these ten unrelated Chinese patients. This study expands the CYP11B1 mutation spectrum and provides evidence for prenatal diagnosis and genetic counseling. Genetic analysis is an alternative approach to help clinicians confirm uncertain 11β-OHD diagnosis, facilitating reasonable steroid replacement. © 2015 Elsevier Inc.


Cen J.,Key Laboratory of Endocrinology | Nie M.,Key Laboratory of Endocrinology | Duan L.,Key Laboratory of Endocrinology | Gu F.,Key Laboratory of Endocrinology
International Journal of Clinical and Experimental Medicine | Year: 2015

Recent evidence has linked novel mutations in the arginine vasopressin receptor 2 gene (AVPR2) and aquaporin-2 gene (AQP2) present in Southeast Asian populations to congenital nephrogenic diabetes insipidus (NDI). To investigate mutations in 2 distinct Chinese pedigrees with NDI patients, clinical data, laboratory findings, and genomic DNA sequences from peripheral blood leukocytes were analyzed in two 5.5- and 8-year-old boys (proband 1 and 2, respectively) and their first-degree relatives. Water intake, urinary volume, body weight and medication use were recorded. Mutations in coding regions and intron-exon borders of both AQP2 and AVPR2 gene were sequenced. Three mutations in AQP2 were detected, including previously reported heterozygous frameshift mutation (c.127_128delCA, p.Gln43Aspfs ×63) inherited from the mother, a novel frameshift mutation (c.501_502insC, p.Val168Argfs ×30, inherited from the father) in proband 1 and a novel missense mutation (c. 643G>A, p. G215S), inherited from both parents in proband 2. In family 2 both parents and one sister were heterozygous carriers of the novel missense mutation. Neither pedigree exhibited mutation in the AVPR2 gene. The patient with truncated AQP2 may present with much more severe NDI manifestations. Identification of these novel AQP2 gene mutations expands the AQP2 genotypic spectrum and may contribute to etiological diagnosis and genetic counseling. © 2015, Int J Clin Exp Med. All rights reserved.

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