Abstract:
:Polymorphisms in DNA repair genes may be associated with differences in the repair efficiency of DNA damage and may influence an individual's risk of atherosclerosis. Genetic research on coronary artery disease (CAD) has traditionally focused on investigation aimed at identifying disease-susceptibility genes. The aim of this study was to investigate the relationship between AP-endonuclease-1 (Asp148Glu), XRCC1 (Arg399Gln), XRCC3 (Thr241Met), XPD (Lys751Gln), XPG (Asp1104His), and hOGG1 (Ser326Cys), gene polymorphisms and the risk of developing CAD in a Turkish population. The study population consisted of 197 patients with acute coronary syndrome (ACS) with chronic CAD and 135 healthy subjects' age and sex matched. Gene polymorphisms were determined by the polymerase chain reaction-restriction fragment length polymorphism method. We demonstrated for the first time, a positive association of XRCC3 and hOGG1 DNA repair gene variants with CAD risk. XRCC3 Thr/Thr genotype and Thr allele frequencies were significantly increased in ACS and chronic CAD patients compared with the control group (p<0.05). It was also observed that there is a protective role of XRCC3 Met alleles against both ACS and chronic CAD (p<0.05). hOGG1 Cys alleles were found significantly higher in ACS patients than in the control group and carriers of the Cys allele had a 1.7-fold increased risk for ACS. In addition, we confirmed the association of XRCC3 Thr241Met and hOGG1 Ser326Cys gene variants with CAD by haplotype analysis. We found that CAD risk is associated with XRCC3 Thr: hOGG1 Cys haplotype, whereas XRCC3 Met: hOGG1 Ser haplotype was found to be protective against the disease. The preliminary results suggested that XRCC3 and hOGG1 genetic variants may be risk factors by affecting the enzyme's function that may lead to development of CAD.
journal_name
Genet Test Mol Biomarkersjournal_title
Genetic testing and molecular biomarkersauthors
Gokkusu C,Cakmakoglu B,Dasdemir S,Tulubas F,Elitok A,Tamer S,Seckin S,Umman Bdoi
10.1089/gtmb.2012.0383subject
Has Abstractpub_date
2013-04-01 00:00:00pages
307-13issue
4eissn
1945-0265issn
1945-0257journal_volume
17pub_type
杂志文章abstract:AIMS:Deregulation of the long noncoding RNA IRAIN has been identified in several cancers. However, the expression pattern of IRAIN and its clinical implication in acute myeloid leukemia (AML) are unknown. The purpose of this study was to investigate the expression status of IRAIN and its clinical significance in non-M3...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2017.0281
更新日期:2018-05-01 00:00:00
abstract:: Background: Studies investigating the relationship between polymorphisms of the sex hormone-binding globulin (SHBG) gene and polycystic ovary syndrome (PCOS) have reported differing results. Therefore, the present meta-analysis was performed to clarify the effects of the S...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2019.0229
更新日期:2020-08-01 00:00:00
abstract:AIMS:Genetic testing has become a routine part of prenatal care, the test being offered according to ethnic origin. However, not all clients take the offered tests while others take unnecessary tests. The present study aimed at examining the effects of risk perception, hypochondria, trait anxiety, and attitudes to gene...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2008.0141
更新日期:2009-08-01 00:00:00
abstract:BACKGROUND AND AIMS:Recently, genetic association studies have linked a number of single nucleotide polymorphisms (SNPs) with liver fibrosis risk of hepatitis C. The present study was designed to validate the association of emerging SNPs with development of liver cirrhosis and chronicity in a Chinese population infecte...
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.2013.0058
更新日期:2013-09-01 00:00:00
abstract:BACKGROUND:+49A/G polymorphism of the cytotoxic T-lymphocyte-associated antigen-4 gene (CTLA-4) has been associated with type 1 diabetes (T1D). However, results were inconsistent. The aim of this study was to quantitatively summarize the evidence for CTLA-4 +49A/G polymorphism and T1D. METHODS:Electronic search of Pub...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析
doi:10.1089/gtmb.2012.0169
更新日期:2012-11-01 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: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:: Aims: The aim of this study was to examine the RNA and protein expression levels and clinical significance of the pore membrane protein 121 kDa (POM121) in lung cancer. Materials and Methods: Paired lung cancer and adjacent non...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2020.0053
更新日期:2020-12-01 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:: Objective: Pancreatic cancer (PC) is a serious disease with poor outcomes, and its prevalence has been increasing steadily. The circadian rhythm (CR) is involved in multiple physiological events and maintains homeostasis. Alterations in the CR elevate the risk of developin...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2020.0179
更新日期:2020-12-29 00:00:00
abstract:INTRODUCTION:Gasdermin A (GSDMA) and gasdermin B (GSDMB) have been associated with childhood, and to a lesser extent with adult, asthma in many populations. AIMS:In this study, we investigated the association between GSDMA and GSDMB variants and the incidence of adult and childhood asthma among Jordanians. METHODS:Su...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2015.0174
更新日期:2016-03-01 00:00:00
abstract:OBJECTIVES:Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, rheumatoid arthritis (RA), ankylosing spondylitis (AS), and seronegative spondyloarthropathy (SPA) are autoimmune diseases of unknown etiology, which share some clinical manifestations in common. Previous family-based investigations su...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2016.0112
更新日期:2017-02-01 00:00:00
abstract:BACKGROUND:p53 is one of the most widely investigated molecular markers in bladder cancer and its polymorphisms have been related to individual cancer risks. The objective of this study was to explore the association of p53 codon 72 polymorphism with susceptibility and clinicopathologic characteristics of bladder cance...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2010.0230
更新日期:2011-05-01 00:00:00
abstract:OBJECTIVES:Somatic mutations in mediator complex subunit 12 (MED12) have emerged as a critical genetic change in the development of uterine leiomyomas. Studies, however, have focused largely on cohorts consisting of Caucasian patients. In this study, uterine leiomyomas from Chinese patients were examined for MED12 muta...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2014.0273
更新日期:2015-03-01 00:00:00
abstract:AIMS:In this meta-analysis, we evaluated the usefulness of serum thymidine kinase 1 concentration (STK1c) for monitoring the outcome of extensive open surgery in patients with lung cancer. We also compared STK1c between a healthy population and patients with benign and malignant lung tumors to assess its potential valu...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析
doi:10.1089/gtmb.2017.0003
更新日期:2017-08-01 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:BACKGROUND:Qualitative and quantitative detection of circulating tumor DNA (ctDNA) is a liquid biopsy technology used for early cancer diagnosis. However, the plasma ctDNA content is extremely low, so it is difficult to detect somatic mutations of tumors using conventional sequencing methods. Target region sequencing (...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2018.0173
更新日期:2019-04-01 00:00:00
abstract:OBJECTIVE:In this study, the aim of prenatal screening was to estimate the carrier frequency of the three mutations 35delG, del (GJB6-D13S1830), and del (GJB6-D13S1854), which are known to be the leading mutations of hereditary hearing loss in European populations. METHODS:We performed a prenatal screening to assess t...
journal_title:Genetic testing and molecular biomarkers
pub_type: 临床试验,杂志文章
doi:10.1089/gtmb.2011.0048
更新日期:2011-11-01 00:00:00
abstract:: Aims: To investigate the expression levels of serum interleukin-17 (IL-17) and interleukin-27 (IL-27) in children with bronchial asthma and to correlate these expression levels with lung function indicators. Methods: A total of...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2019.0155
更新日期:2020-01-01 00:00:00
abstract:OBJECTIVES:We aimed to investigate the influence of ulinastatin (UTI) on the serum levels of C-reactive protein (CRP), interleukin 6 (IL-6), and tumor necrosis factor alpha (TNF-α) in Asian patients with acute pancreatitis (AP) by performance of a meta-analysis. METHODS:Two investigators independently searched 11 data...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析
doi:10.1089/gtmb.2015.0192
更新日期:2016-03-01 00:00:00
abstract::Recent studies have identified genetic markers that may directly influence the risk of the coronary artery disease (CAD), in particular the renin angiotensin system genes. Since there are no existing data for the Tunisian population, we investigated the association between these polymorphisms (angiotensin-converting e...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2010.0070
更新日期:2010-10-01 00:00:00
abstract:AIM:One of the main problems concerning repeated spontaneous miscarriage (RSM) is the etiological diagnosis. The relation of thrombophilia to RSM is a matter of debate. In this case-control study, we determined the percentages of three thrombophilic mutations (factor V leiden, prothrombin, and methylenetetrahydrofolate...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2010.0052
更新日期:2010-10-01 00:00:00
abstract::Inherited functional single-nucleotide polymorphisms (SNPs) in DNA repair genes may influence the capability of DNA repair and contribute to the risk of breast cancer. We therefore performed a case-control study to investigate the association of three in excision repair cross-complimentary group 1 (ERCC1) and three in...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1089/gtmb.2013.0122
更新日期:2013-09-01 00:00:00
abstract::Mutations in the gene MLC1 are found in approximately 80% of the patients with the inherited childhood white matter disorder megalencephalic leukoencephalopathy with subcortical cysts (MLC). Genetic linkage studies have not led to the identification of another disease gene. We questioned whether mutations in CLCN2, co...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2009.0148
更新日期:2010-04-01 00:00:00
abstract:OBJECTIVE:Essential hypertension is a multifactorial disease in which genetic and environmental factors play an important role. The renin-angiotensin system (RAS) is known to play a critical role in the homeostasis of blood pressure. Angiotensin-I converting enzyme (ACE) is a significant component of RAS, and an insert...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0155
更新日期:2012-03-01 00:00:00
abstract:AIMS:The etiology of infertility is still unknown in almost half of all male infertility patients. In sperm, DNA condensation differs from somatic and female gamete cells, with the protamine (PRM) gene and its transcription factor, Y-box binding protein 2 (YBX2), playing key roles in making the structure more compact. ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2017.0040
更新日期:2018-01-01 00:00:00
abstract::Human papillomavirus (HPV) infection is estimated to be the most common sexually transmitted infection and is one of the causal factors in cervical cancer. Understanding the epidemiology of this infection is an important step toward developing strategies for its prevention. Cervical samples from 210 healthy women with...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0354
更新日期:2012-08-01 00:00:00
abstract:AIM:Neurexin 1 has two major protein isoforms using alternative promoters, coding for the alpha-neurexin 1 (α-NRXN1) and beta-neurexin 1 (β-NRXN1) genes. This study is to explore the possibility that variants of the NRXN1 gene predispose to intellectual disability (ID) and autism spectrum disorder (ASD). METHODS:The c...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2014.0003
更新日期:2014-07-01 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:AIMS:The aim of this study was to evaluate urokinase-type plasminogen activator gene (uPA) and thrombin-activatable fibrinolysis inhibitor gene (TAFI) genotypes in a group of infertile women with and/or without endometriosis and controls. METHODS:A case-control study comprising 180 infertile women with endometriosis, ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0112
更新日期:2012-01-01 00:00:00