Abstract：
AIM:Our aim was to examine the diagnostic yield of genetic testing in 855 consecutive unrelated cases referred for Long QT syndrome (LQTS). RESULTS:Eight hundred fifty five consecutive patients with a mean age at testing of 27.5±18.6 years, were referred for LQTS genetic testing and had accompanying clinical information. KCNQ1, KCNH2, SCN5A, ANK2, KCNE1, KCNE2, CACNA1C, KCNJ2, CAV3, and SCN4B were analyzed using Next-Generation sequencing in all patients, and 395 patients were also tested for an additional two genes, AKAP9 and SNTA1. We retrospectively analyzed the diagnostic yield of this genetic test and factors that predicted the likelihood of a disease causing mutation using ANOVA, χ2, t-test, and receiver operator curves. At least one mutation was identified in 30.3% of the patients (n=259), and 18 patients (2.1%) had two mutations. Patients with two mutations had a longer QTc interval (p<0.01) than patients with one mutation. A longer QTc duration and family history of LQTS were each associated with a higher yield of positive results on genetic testing (p<0.01 for each). Using a QTc cutoff of 476 msec or greater, the genetic testing had a sensitivity of 72% and a specificity of 49%. Mutations within the transmembrane domain of KCNQ1 were associated with a greater risk of cardiac arrest and syncope relative to mutations in other domains of the gene. Mutations in SCN5A were associated with a higher frequency of cardiac arrest (52.6%). CONCLUSION:Sequencing-based genetic testing has a sensitivity of 72% and has clinical utility.
journal_name
Genet Test Mol Biomarkersjournal_title
Genetic testing and molecular biomarkersauthors
Lieve KV,Williams L,Daly A,Richard G,Bale S,Macaya D,Chung WKdoi
10.1089/gtmb.2012.0118subject
Has Abstractpub_date
2013-07-01 00:00:00pages
553-61issue
7eissn
1945-0265issn
1945-0257journal_volume
17pub_type
杂志文章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：: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 ...
journal_title：Genetic testing and molecular biomarkers
pub_type： 杂志文章
doi：10.1089/gtmb.2012.0383
更新日期：2013-04-01 00:00:00
abstract：: Objective: To investigate any associations between the single nucleotide polymorphisms (SNPs) at the interleukin-6 (IL-6) rs1800796, interleukin-10 (IL-10) rs1800896, and the tumor necrosis factor-alpha (TNF-α) rs1800629 loci with gestational diabetes mellitus (GDM) suscep...
journal_title：Genetic testing and molecular biomarkers
pub_type： 杂志文章
doi：10.1089/gtmb.2020.0069
更新日期：2020-07-01 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：BACKGROUND:Neuroblastoma (NB) is a neoplasm of the sympathetic nervous system and the most frequent extra cranial solid tumor of early childhood. These tumors display a wide range of clinical behavior and are characterized by complex chromosomal changes, some of which are associated with distinct clinical phenotypes. W...
journal_title：Genetic testing and molecular biomarkers
pub_type： 临床试验,杂志文章
doi：10.1089/gtmb.2015.0165
更新日期：2016-02-01 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：OBJECTIVE:To investigate the correlations between three vascular endothelial growth factor 2 (VEGFR2) gene polymorphisms, +1192C>T, +1719T>A, and -604T>C, and deep venous thrombosis (DVT) in Chinese Han population. METHODS:We conducted a case-control study, between September 2009 and September 2012, in a Chinese Han p...
journal_title：Genetic testing and molecular biomarkers
pub_type： 临床试验,杂志文章
doi：10.1089/gtmb.2015.0129
更新日期：2015-12-01 00:00:00
abstract：: Background: Numerous studies, ranging from the alleviation of tissue ischemia to the assessment of cancer prognosis, have demonstrated the fundamental biological differences between human umbilical cord blood-derived endothelial progenitor cells (CB-EPCs) and adult periphe...
journal_title：Genetic testing and molecular biomarkers
pub_type： 杂志文章
doi：10.1089/gtmb.2019.0272
更新日期：2020-09-01 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
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：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/AIM:several studies have looked at the potential link between angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism and the risk of hypertension and have shown that the DD polymorphism may be associated with a higher prevalence of hypertension. Our objective was to assess for possible ass...
journal_title：Genetic testing and molecular biomarkers
pub_type： 杂志文章
doi：10.1089/gtmb.2010.0096
更新日期：2010-12-01 00:00:00
abstract：:Direct evidence of the critical physiological role of connexins (Cxs) has come through the associations of several human diseases with pathogenic mutations in specific Cx genes. Currently, mutations in genes coding for five Cx proteins (Cx26, Cx30, Cx31, Cx32, and Cx43) have been shown to cause sensorineural hearing l...
journal_title：Genetic testing and molecular biomarkers
pub_type： 杂志文章
doi：10.1089/gtmb.2010.0085
更新日期：2011-05-01 00:00:00
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：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：: Aim: Spinal muscular atrophy (SMA) is an inherited, autosomal recessive neuromuscular disease that causes high morbidity and mortality. The prevalence is 1-2/100,000, while the incidence is 1/6000-1/10,000 among live births. Due to the high carrier frequency (1/40-1/60) of...
journal_title：Genetic testing and molecular biomarkers
pub_type： 杂志文章
doi：10.1089/gtmb.2020.0085
更新日期：2020-09-01 00:00:00
abstract：AIM:The objective of this study was to investigate the prevalence of polymorphic markers of the CYP2C19, CYP2C9, CYP2D6, SLCO1B1, and ABCB1 genes among the three ethnic groups in Dagestan and compare it with the carrier frequency of these markers among the Russian population living in Moscow. METHODS:The study involve...
journal_title：Genetic testing and molecular biomarkers
pub_type： 杂志文章
doi：10.1089/gtmb.2017.0036
更新日期：2017-12-01 00:00:00
abstract：:Next-generation sequencing has changed the face of cancer immunotherapy research by making tumor-specific cancer vaccines a reality. Whole exome sequencing and RNA sequencing combined with bioinformatic pipelines allow the prediction of neoantigen targets for cancer vaccines. In this review, we discuss the preclinical...
journal_title：Genetic testing and molecular biomarkers
pub_type： 杂志文章,评审
doi：10.1089/gtmb.2018.0211
更新日期：2020-02-01 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：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：: Aims: Circadian rhythm genes including Period 3 (Per3) are associated with major depressive disorder (MDD) and have an effect on the patient's response to selective serotonin reuptake inhibitor (SSRI) antidepressants. The aim of this study was to identify possible associat...
journal_title：Genetic testing and molecular biomarkers
pub_type： 杂志文章
doi：10.1089/gtmb.2019.0065
更新日期：2019-12-01 00:00:00
abstract：AIMS:To identify the pathogenic mutation underlying microcephaly primary hereditary (MCPH) in a large consanguineous Pakistani family. METHODS:A five-generation family with an autosomal recessive transmission of MCPH was recruited. Targeted next-generation DNA sequencing was carried out to analyze the genomic DNA samp...
journal_title：Genetic testing and molecular biomarkers
pub_type： 杂志文章
doi：10.1089/gtmb.2017.0229
更新日期：2018-03-01 00:00:00
abstract：:Diabetic nephropathy is the leading cause of end-stage renal disease in the world. The cause of diabetic nephropathy seems to be multifactorial, and about one-third of patients with diabetes eventually develop this complication. The gene encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) is a candidat...
journal_title：Genetic testing and molecular biomarkers
pub_type： 杂志文章
doi：10.1089/gtmb.2010.0148
更新日期：2011-04-01 00:00:00
abstract：OBJECTIVE:To examine the association between apolipoprotein B (ApoB) XbaI polymorphisms (rs693) and coronary heart disease (CHD) risk among the Han Chinese population by systematically analyzing multiple independent studies. METHODS:The Hardy-Weinberg equilibrium test was applied to check genetic equilibrium among gen...
journal_title：Genetic testing and molecular biomarkers
pub_type： 杂志文章,meta分析
doi：10.1089/gtmb.2015.0126
更新日期：2016-06-01 00:00:00
abstract：AIM:The present study was undertaken to investigate a length polymorphism of (GT)n repeats of the heme oxygenase-1 (HMOX-1) gene and its association with serum bilirubin levels in apparently healthy adults. METHODS:A total of 211 individuals (normal hematology and liver function test) with bilirubin levels of 1.7 to 2...
journal_title：Genetic testing and molecular biomarkers
pub_type： 杂志文章
doi：10.1089/gtmb.2010.0132
更新日期：2011-04-01 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：: 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：: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：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：BACKGROUND:Next-Generation Sequencing (NGS) is the latest approach for preimplantation genetic diagnoses (PGD). AIM:The purpose of this study was to standardize and validate an NGS method for comprehensive chromosome screening and to investigate its applicability to PGD. METHODS:Embryo biopsy, whole-genome amplificat...
journal_title：Genetic testing and molecular biomarkers
pub_type： 杂志文章
doi：10.1089/gtmb.2017.0108
更新日期：2017-11-01 00:00:00
