Asian Continental Ancestry Group ; genetics ; Bone Density ; Estrogen Receptor alpha ; genetics ; Estrogen Receptor beta ; genetics ; Humans ; Osteoporosis ; genetics ; Receptors, Calcitriol ; genetics

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with autosomal dominant late-onset non-syndromic hearing loss (NSHL). METHODS: Clinical data of the pedigree were collected. Genomic DNA was extracted from peripheral blood samples of the proband and other family members. Trio whole exome sequencing was carried out for 19 396 genes to identify potential pathogenic variants. Sanger sequencing was carried out to verify the candidate variant in the pedigree. RESULTS: The proband and his father were found to carry a c.1183+1delG p.? variant of the DFNA5 gene. The variant was confirmed to be co-segregating with the disease phenotype in the pedigree. CONCLUSION The c.1183+1delG p.? variant of the DFNA5 gene probably underlay the late onset NSHL in this pedigree. Above finding has enabled accurate genetic counseling for this pedigree.
Age of Onset ; China ; Hearing Loss, Sensorineural/genetics* ; Humans ; Male ; Mutation ; Pedigree ; Receptors, Estrogen/genetics*

OBJECTIVES: Clarifying the expression of breast cancer receptor is the key to clinical treatment for breast cancer. This study aims to explore the correlation between X-ray and clinical characteristics of 4 molecular subtypes and their receptor types of breast cancer. METHODS: A total of 439 breast cancer patients who confirmed by pathology and performed X-ray examination were enrolled. The X-ray and clinical characteristics of 4 molecular subtypes and the expression of their receptors were analyzed. RESULTS: Luminal A type showed the highest proportion of spiculate masses, and the lowest calcification score, showing significant difference with other 3 subtypes (all CONCLUSIONS Four molecular subtypes of breast cancer and their receptor expressions are correlated with X-ray and clinical characteristics, which can provide a basis for clinical diagnosis and treatment.
Biomarkers, Tumor ; Breast Neoplasms/genetics* ; Female ; Humans ; Receptor, ErbB-2/genetics* ; Receptors, Estrogen ; Receptors, Progesterone ; X-Rays

To investigate the estrogen receptor (ER) expression in cartilage cell in the development of osteoarthritis induced by bilateral ovariectomy in guinea pig and to find their relationship. 30 two-month-old female guinea pigs were randomly divided into two groups (n = 15 each): sham operation (control) group and ovariectomized group (OVX); Scanning electorne microscope (SEM) and transmission electron microscope (TEM) were obtained to analysis the cartilage degeneration of the hind limb knee joint after 6 and 12 weeks of ovariectomy. Dextran-Coated-Charcoal (DCC) was taken to quantitively detect the expression of ER. The serum levels of estrogen and gestone were detected by immune contest assay. The results showed that ER do exist in the cartilages of the guinea pigs, with higher expression in the control group than in OVX group at the same time point (P < 0.05). It was increased also at 12 th week after operation than that of preoperation. The blood serum levels of estrogen and gestone showed a similar tendency to the expression of ER. Joint cartilage degeneration detected by SEM and TEM could be found at 6 th week, but severe degenerative lesions at 12 th week in the OVX group compared with the control group (P < 0.01). The data suggested that bilateral ovariectomy in guinea pig lead to severe osteoarthritis which mighgt be related to the lower serum level of estrogen and the downregulation of the expression of ER in the cartilage also.
Cartilage, Articular/cytology ; Cartilage, Articular/*metabolism ; Chondrocytes/metabolism ; Estrogens/*blood ; Osteoarthritis/*etiology ; Osteoarthritis/metabolism ; Ovariectomy ; Random Allocation ; Receptors, Estrogen/*biosynthesis ; Receptors, Estrogen/genetics

Objective To approach the discordance of estrogen receptor(ER),progesterone receptor(PR),Cerb-B2,Ki-67 index and P53 expressions between primary and regional or distant recurrent lesions in recurrent or metastatic breast cancer patients.Methods Clinical and pathological data of 56 recurrent or metastatic breast cancer patients who were treated in Peking Union Medical College Hospital from January 2001 to February 2015 were retrospectively analyzed.The changes in the expressions of ER,PR,Cerb-B2,Ki-67 index,and P53 status were analyzed.Results The hormone receptor positive rate between primary tumor and recurrent or metastatic sites decreased from 60.7% to 57.1% for ER and from 55.4% to 44.6% for PR,respectively.Changes in hormone receptor status were seen at the rate of 12.5%(7/56)and 16.1%(9/56)for ER and PR,respectively.Cerb-B2 receptor positive rate increased from 19.1% to 29.5% and the discordance rate was 9.1%(4/44).The discordance rate of Ki-67 index was 24.5%(12/49).The P53 receptor positive rate increased from 37.5% to 55.6% and the discordance rate was 13.3%(6/45).Conclusion Although the relevant rules of above changes are still controversial,these findings still have great clinical significance for making effective treatment decisions of recurrent or metastatic breast cancer.
Breast Neoplasms ; genetics ; Humans ; Ki-67 Antigen ; genetics ; Receptor, ErbB-2 ; genetics ; Receptors, Estrogen ; genetics ; Receptors, Progesterone ; genetics ; Retrospective Studies ; Tumor Suppressor Protein p53 ; genetics

OBJECTIVETo investigate the relationship between chronic periodontitis and the genetic polymorphisms of vitamin D receptor gene and estrogen receptor gene.

METHODSClinical parameters including probing depth, clinical attachment loss, sulcus bleeding index and tooth movement were measured by fluoride probe. Genomic DNA from peripheral venous blood was extracted with saturant sodium chloride, and PCR-restriction fragment length polymorphism was applied to examine the Apa I, Bsm I, Taq I polymorphisms of the vitamin D receptor genes and the Xba I and Pvu II polymorphisms of the estrogen receptor genes. The results were analyzed by Z-score test and mean square analysis.

RESULTSForty-three point four percent of chronic periodontitis patients took vitamin D receptor BB genotype, the rate in healthy controls was 30.0%. 39.6% of chronic periodontitis patients took estrogen receptor XX genotype, the rate in healthy controls was 20.0%. The people who took BBXX genotype had the worst periodontal conditions among all chronic periodontitis patients.

CONCLUSIONSVitamin D receptor allele B and estrogen receptor allele X are susceptible alleles for chronic periodontitis. The synergistic effects of the two receptor susceptible alleles may promote chronic periodontitis.

Adult ; Alleles ; Case-Control Studies ; Chronic Periodontitis ; genetics ; pathology ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; Receptors, Calcitriol ; genetics ; Receptors, Estrogen ; genetics ; Young Adult

AIMTo explore the expression of ER and PR mRNAs in endometrium with endometriosis.

METHODSThe rat model of endometriosis was established, and the expression of ER, PR mRNAs in the endometrium was examined by reverse transcription-polymerase chain reaction (RT-PCR).

RESULTSThe expression of ER and PR mRNAs in ectopic endometrium was significantly lower than that in eutopic and normal endometrium (P < 0.01). But no difference was observed between eutopic and normal endometrium (P > 0.05). Ratio of ER/PR mRNA in ectopic endometrium was larger than that in eutopic and in normal endometrium (P < 0.01).

CONCLUSIONThe result illuminates that the increased ER plays a vital role in the onset of endometriosis.

Animals ; Endometriosis ; metabolism ; Endometrium ; metabolism ; Female ; RNA, Messenger ; genetics ; Rats ; Rats, Sprague-Dawley ; Receptors, Estrogen ; genetics ; metabolism ; Receptors, Progesterone ; genetics ; metabolism

OBJECTIVESTo observe the expression of somatostatin receptor subtype 2 (SSTR2) mRNA, and investigate the relationship between the expression of SSTR2 mRNA and the expressions of estrogen and progesterone receptors (ERs and PRs) in benign and malignant breast tissues.

METHODSSamples from a total of 23 breast carcinomas, 16 mammary hyperplasias, and 9 mammary fibroadenomas were analyzed. SSTR2 mRNA expression was examined by in situ hybridization using multiphase oligoprobes. ER and PR expressions were detected by immunohistochemical staining. A computerized image analysis system was utilized to estimate the relative content of SSTR2 mRNA.

RESULTSThe rate of expression (87.0%) and relative content (0.47) of SSTR2 mRNA in breast cancer were higher than those in benign breast tissue (64%, 0.26) (P < 0.05). SSTR2 mRNA expression was closely correlated with ER and PR expressions in breast cancer (P < 0.05). SSTR2 mRNA was also positively correlated with ER expression in benign breast tissues.

CONCLUSIONSSSTR2 mRNA expression is higher or in benign breast tissues than in malignant ones. There is a significant positive correlation between SSTR2 mRNA and ER and PR expressions. Combined antiestrogen and somatostatin analogue in treatment of ER-positive breast cancers should be further investigated.

Breast Diseases ; metabolism ; Breast Neoplasms ; chemistry ; Humans ; Immunohistochemistry ; In Situ Hybridization ; RNA, Messenger ; analysis ; Receptors, Estrogen ; analysis ; Receptors, Progesterone ; analysis ; Receptors, Somatostatin ; genetics

OBJECTIVETo investigate the correlation of prolactin receptor (PRL-R) expression to estrogen receptor (ER) and progesterone receptor (PR) expressions in primary breast cancer.

METHODSFor 130 female patients with breast cancer (median age 46 years), PRL-R expression in the primary tumor was detected by immunohistochemistry, and the correlation between PRL-R and ER/PR expressions was analyzed statistically.

RESULTSPRL-R positivity in the primary tumor was found in 89 of the patients (68.5%), and the positivity rate for PRL-R was positively correlated to ER expression (P<0.05). Further stratification of the patients according to the CerbB-2 status revealed such a correlation only in CerbB-2-positive patients (P<0.05). In the patient cohort, no significant correlation was found in the positivity rate between PRL-R and PR expressions (P>0.05), but in CerbB-2-positive patients, the positivity rate of PRL-R showed a positive correlation to PR expression (P<0.05).

CONCLUSIONThe positive correlations in positivity rate between the PRL-R and ER/PR expressions are found only in CerbB-2 positive patients with breast cancer, and the expressional status of CerbB-2 affects the correlation between PRL-R and ER/PR expression in breast cancer.

Adult ; Aged ; Breast Neoplasms ; metabolism ; Female ; Humans ; Middle Aged ; Receptor, ErbB-2 ; genetics ; metabolism ; Receptors, Estrogen ; metabolism ; Receptors, Progesterone ; metabolism ; Receptors, Prolactin ; metabolism

OBJECTIVEAIM To establish a drug screening model based on transcriptional regulation of estrogen responsive element (ERE) and use it to screen compounds for discovering new ligands of estrogen receptor (ER) subtypes.

METHODA recombinant reporter vector pERE-TAL-SEAP was constructed by inserting a synthetic sequence composed of five tandem copies of EREs upstream of promoter of the reporter vector pTAL-SEAP. The pERE-TAL-SEAP and the internal control plasmid pCMV were transiently co-transfected into Hela cells expressing ER subtype or ER subtype, and the effects of pure ER agonists 17estradiol, phytoestrogen genistein and pure ER antagonist ICI182, 780 on reporter gene SEAP expression were observed.

RESULTIn the Hela cells expressing ER alpha or ER beta subtype, the expression of SEAP gene were induced in a dose dependent manner by 17-estrodiol with a maximal effect at approximately 10 nmol.L-1 and with EC50 of (80.58 +/- 8.51) pmol.L-1 and (103.90 +/- 5.29) pmol.L-1, respectively, so done by phytoestrogen genistein with a maximal effect at 1 mumol.L-1 and with EC50 of (10.86 +/- 0.75) nmol.L-1 and (39.38 +/- 2.26) nmol.L-1, respectively. The maximal level induced by estrodiol and genistein were about 7-14 fold higher than that of vehicle. The pure antiestrogen ICI182, 780 at concentration of 1 mumol.L-1 completely blocked the inductions of 17-estrodiol and genistein.

CONCLUSIONThe cellular drug screening model can be established by transfecting reporter vector pERE-TAL-SEAP in Hela cell lines expressing ER alpha or ER beta. The cell lines can be used to screen compounds with estrogenicity by testing SEAP activity in the culture media of cells growing in microtitier wells. The system should provide an efficient model for screening and analyzing the activity of large numbers of ligands of ER.

Drug Evaluation, Preclinical ; methods ; Estradiol ; pharmacology ; Estrogen Receptor alpha ; Estrogen Receptor beta ; Gene Expression Regulation ; drug effects ; Genes, Reporter ; Genistein ; pharmacology ; HeLa Cells ; Humans ; Ligands ; Promoter Regions, Genetic ; Receptors, Estrogen ; genetics ; Transfection