Abstract:
:P-glycoprotein (P-gp) is present in various tissue cells, required for the pumping of lipophilic drugs (including glucocorticoids) out of cells. We hypothesized that polymorphisms in the P-gp encoding gene (multidrug-resistant transporter-1 [MDR1]) are related to individual differences in glucocorticoid sensitivity and the development of glucocorticoid-induced avascular necrosis of the femoral head (GANFH). In this case-control study, we genotyped three known single-nucleotide polymorphisms (SNPs: C1236T, G2677T/A, and C3435T) within the MDR1 gene in 662 Chinese subjects. Statistically significant differences between GANFH patients and either healthy controls or glucocorticoid-resistant patients (non-GANFH) were found for the T allele or TT genotype of C3435T. The haplotype TTT, composed of these three SNPs, exhibited a significant association with the disease. No associations were identified between C1236T or G2677T/A and GANFH. Our results suggest that the C3435T polymorphism of the MDR1 gene is associated with susceptibility to GANFH in a Chinese population.
journal_name
Genet Test Mol Biomarkersjournal_title
Genetic testing and molecular biomarkersauthors
Xue Y,Zhao ZQ,Hong D,Zhang HJ,Chen HX,Fan SWdoi
10.1089/gtmb.2013.0374subject
Has Abstractpub_date
2014-03-01 00:00:00pages
196-201issue
3eissn
1945-0265issn
1945-0257journal_volume
18pub_type
杂志文章abstract:BACKGROUND:Dopamine D2 receptor (DRD2) is thought to be critical in regulating the dopaminergic pathway in the brain, which is known to be important in the etiology of schizophrenia. It is, therefore, not surprising that most antipsychotic medication acts on DRD2. DRD2 is widely expressed in the brain; levels are reduc...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0085
更新日期:2012-02-01 00:00:00
abstract::A 26-year-old woman with secondary amenorrhea and turneroid stigmata was found to have a 46,X,rea(X)(qter→p11.2::q21.2→qter)/46,X,del(X)(qter→p11.2:) mosaicism in 101 G-banded metaphases (71 and 30, respectively). The mother's karyotype was normal (the father was already deceased). A fully skewed inactivation of both ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,评审
doi:10.1089/gtmb.2011.0017
更新日期:2011-10-01 00:00:00
abstract::By virtue of the functional role of the mitochondrion in energy and reactive oxygen species production, mutations in mitochondrial DNA (mtDNA) are potential candidates for cardiovascular-related disorders. Further, the mtDNA is extremely polymorphic and several diagnostic single-nucleotide polymorphisms have been used...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2009.0095
更新日期:2010-02-01 00:00:00
abstract::We studied the effect of five newly synthesized steroidal derivatives of nitrogen mustards. These derivatives have as alkylators either P-N, N-bis(2-chloroethyl)aminophenyl-butyrate (CHL) or P-N, N-bis(2-chloroethyl)aminophenyl-acetate (PHE) groups esterified with different modified steroidal nuclei. We examined them ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0234
更新日期:2012-06-01 00:00:00
abstract:AIMS:We assessed the validity of a next-generation sequencing protocol using in-solution hybridization-based enrichment to identify NF1 mutations for the diagnosis of 86 patients with a prototypic genetic syndrome, neurofibromatosis type 1. In addition, other causative genes for classic genetic syndromes were set as th...
journal_title:Genetic testing and molecular biomarkers
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1089/gtmb.2014.0109
更新日期:2014-11-01 00:00:00
abstract:BACKGROUND AND AIMS:Published data on the associations between interleukin-4 receptor (IL-4R) gene polymorphisms (Q551R, I50V) and rheumatoid arthritis (RA) risk are controversial. To quantitatively evaluate the relationships, a meta-analysis was performed. METHODS:Studies were identified from the databases of PubMed,...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析,评审
doi:10.1089/gtmb.2013.0186
更新日期:2013-10-01 00:00:00
abstract::Genetic testing of myotonic dystrophy type 1 (DM1) is very important because it enables the diagnosis and indicates the severity of the disease. Mutation analysis is based on the detection of the number of CTG triplets in the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. Sometimes it cou...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0218
更新日期:2012-12-01 00:00:00
abstract::The estrogen receptor β (ERβ) mediates the action of estrogen on metabolism of lipids and lipoprotein. Therefore, its gene is a promising candidate gene for cardiovascular disease. The aim of the present study was to investigate whether the ERβ A1730G polymorphism modifies the metabolic response to hormone replacement...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2010.0106
更新日期:2011-01-01 00:00:00
abstract::The KRAS pathway and studies evaluating KRAS as a prognostic marker in colorectal cancer are discussed along with advances in KRAS gene mutation testing. Highly sensitive real-time polymerase chain reaction (PCR) methods were developed for this purpose. We examined the applicability of direct sequencing and two real-t...
journal_title:Genetic testing and molecular biomarkers
pub_type: 临床试验,杂志文章
doi:10.1089/gtmb.2011.0027
更新日期:2011-11-01 00:00:00
abstract::Prostate cancer is the most common noncutaneous malignant neoplasm in men in the Western countries. It is well established that genetic and epigenetic alterations are common events in prostate cancer, which may lead to aberrant expression of critical genes. Most of the studies are focused on the overexpressed or dupli...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0524
更新日期:2013-07-01 00:00:00
abstract:PURPOSE:This study was undertaken to describe cancer risk assessment practices among primary care providers (PCPs). METHODS:An electronic survey was sent to PCPs affiliated with a single insurance carrier. Demographic and practice characteristics associated with cancer genetic risk assessment and testing activities we...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2009.0037
更新日期:2009-12-01 00:00:00
abstract:: Background: Allergic diseases, including asthma, atopic dermatitis, allergic rhinitis, and food allergies, are caused by both environmental and genetic factors. The allergic condition, where genetic factors make up the largest proportion (up to 95%), is asthma. ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2020.0081
更新日期:2020-10-01 00:00:00
abstract::Up to date, few published studies indicated the associations between genetic polymorphisms and epidural local anesthetics consumption. In this study, we investigated the associations between seven single-nucleotide polymorphisms (SNPs) and epidural ropivacaine consumption during breast cancer surgery in women from nor...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0388
更新日期:2013-06-01 00:00:00
abstract:AIM:The insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene is associated with vitiligo in the Indians and Koreans, but not in those of English or Turkish background. We investigated the ACE (I/D) polymorphism in vitiligo patients for the first time in Egypt and compared serum ACE leve...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2014.0326
更新日期:2015-05-01 00:00:00
abstract:BACKGROUND:Urothelial carcinoma (UC) is the most common histologic subtype of bladder cancer. The administration of mitomycin C (MMC) into the bladder after transurethral resection of the bladder tumor (TURBT) is a common treatment strategy for preventing recurrence after surgery. We previously applied hydrostatic pres...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2013.0443
更新日期:2014-06-01 00:00:00
abstract:AIMS:Essential hypertension (EH) is a disease in which both environment and genes have an important role. This study was designed to identify the interaction model between genetic variants and environmental risk factors that most highly potentiates EH development. METHODS:We performed a case-control study with 1641 pa...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2017.0048
更新日期:2017-10-01 00:00:00
abstract:: Background: Heroin use disorder (HUD) is a complex brain disease that includes multiple phenotypes. Heroin acts primarily as a mu-opioid receptor (OPRM1) agonist. The κ opioid receptor 1 (OPRK1) is critically involved in abstinence and remission. Multiple studies confirm t...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2019.0159
更新日期:2020-01-01 00:00:00
abstract:AIM:To investigate the association between autism spectrum disorder (ASD) and the phospholipase A2 group IVC (PLA2G4C) and phospholipase A2 group XIIA (PLA2G12A) polymorphisms in the Northeast Han Chinese population. MATERIALS AND METHODS:A total of 68 family trios (children diagnosed with ASD and their unaffected par...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2016.0195
更新日期:2016-12-01 00:00:00
abstract::Tay-Sachs disease is a rare autosomal recessive neurodegenerative disorder that results from mutations in the HEXA gene, leading to β-hexosaminidase A (HexA) α subunit deficiency. An unusual variant of Tay-Sachs disease is known as the B1 variant. Previous studies indicated that, in northern Portugal, this is not only...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2010.0129
更新日期:2011-03-01 00:00:00
abstract:: Aims: Aryl hydrocarbon receptor-interacting protein (AIP) gene mutations have long been associated with apparently sporadic pituitary adenomas (PAs) with a prevalence range of 0-12%. The aim of this study was to evaluate the frequency of germline AIP variations in a large ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2018.0133
更新日期:2018-12-01 00:00:00
abstract:AIMS:Mannose-binding lectin (MBL) is a protein synthesized by the liver and its immune response is associated with the development of liver fibrosis. We hypothesized that the polymorphisms in the Exon 1 region (52, 54, 57) and promoter regions (-550 H/L, -221 X/Y) of the MBL2 gene were associated with the severity of p...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2017.0051
更新日期:2017-09-01 00:00:00
abstract:: Aims: Split-hand/split-foot malformation (SHFM) is a developmental and congenital limb malformation characterized by variable degrees of medial clefting or absence of one or more digits in hands and/or feet. The aim of this study was to identify the underlying cause of thr...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2020.0024
更新日期:2020-09-01 00:00:00
abstract::Mutations in GJB2 gene are the most common cause of nonsyndromic sensorineural recessive hearing loss. One specific mutation, c.35delG, is the most frequent in the majority of Caucasian populations and may account for up to 70% of all GJB2 mutations. However, 10-40% of the patients carry only one pathogenic mutation i...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2009.0025
更新日期:2009-10-01 00:00:00
abstract:BACKGROUND:Cytogenetic biomarkers are most frequently used well-established endpoints in human population studies with their sensitivity for measuring exposure to genotoxic agents. They have an important role as early predictors of cancer risk. Identification of individual genotypes of metabolic gene polymorphisms help...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0038
更新日期:2012-10-01 00:00:00
abstract::The identities and frequencies of MYO15A mutations associated with hearing loss in different populations remained largely unknown. We screened the MYO15A gene for mutations in 104 unrelated multiplex and consanguineous Turkish families with autosomal recessive nonsyndromic sensorineural hearing loss using autozygosity...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2010.0039
更新日期:2010-08-01 00:00:00
abstract:AIMS:Despite the established link between malignant pleural mesothelioma (MPM) and asbestos exposure, genetic risk factors may play a key role in MPM pathogenesis. The rs9939609 polymorphism in the FTO gene has recently been implicated as a risk factor for some types of cancer, such as breast, pancreatic, and prostate ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2017.0146
更新日期:2018-02-01 00:00:00
abstract:: Background and Aims: Interleukin-15 (IL-15) is a key player in the pathogenesis of celiac disease (CD). We investigated the functional role of IL-15 in the process of epithelial cell phenotypic modification at different stages of CD. Materials and ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2019.0265
更新日期:2020-08-01 00:00:00
abstract:UNLABELLED:Previous studies suggest that the MDM2 gene is one of the most important candidate genes for influencing the risk of osteosarcoma. This study aims to investigate the potential association of MDM2 c.346G>A genetic variant with the risk of osteosarcoma in Chinese. A total of 738 subjects were recruited in this...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2014.0260
更新日期:2015-02-01 00:00:00
abstract:OBJECTIVES:Genotyping of single-nucleotide polymorphisms (SNPs) has been applied in various genetic contexts. Tetra-primer amplification refractory mutation system (ARMS) polymerase chain reaction (PCR) is reported as a prominent assay for SNP genotyping. However, there were published data that may question the reliabi...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2014.0289
更新日期:2015-03-01 00:00:00
abstract:: Aims: This meta-analysis evaluated the value of using Epstein-Barr virus (EBV) DNA titers as a predictive factor in assessing the clinical course of nasopharyngeal carcinoma (NPC) patients in Southeast Asia. Methods: A systemat...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析
doi:10.1089/gtmb.2018.0304
更新日期:2019-07-01 00:00:00