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Identification and Analysis of Key Genes Driving Gastric Cancer Through Bioinformatics Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2021-01-18 Zhao Liu; Shihai Liu; Jing Guo; Libin Sun; Shasha Wang; Yixuan Wang; Wensheng Qiu; Jing Lv
Objective: The aim of this study was to use bioinformatic analyses to identify key genes and pathways driving gastric cancer (GC).
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Toll-Like Receptor 9 Expression Levels in Breast Carcinoma Correlate with Improved Overall Survival in Patients Treated with Neoadjuvant Chemotherapy and Could Serve as a Prognostic Marker Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2021-01-18 Aradhana Singh; Arghya Bandyopadhyay; Narendranath Mukherjee; Anupam Basu
Aim: Toll-like receptor 9 (TLR9) can recognize the DNA fragments released from chemotherapy-treated cancer cells in tumor tissues and induce an inflammatory response. The aim of the present study was to evaluate the survivability benefit of TLR9 expression levels as a potential prognostic marker in breast cancer patients treated with neoadjuvant chemotherapy (NACT).
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Association of Multiple Dopamine D3 Receptor Gene 3′UTR Polymorphisms with Susceptibility to Parkinson's Disease and Clinical Efficacy of Piribedil Therapy Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2021-01-18 Rongbo Zhang; Jing Li; You Wu; Shunli Liang; Linsheng Xu
Objective: To investigate the correlation between the Dopamine D3 receptor (DRD3) 3′untranslated region (3′UTR) gene polymorphism and susceptibility to Parkinson's disease (PD) and the clinical effect of the DRD2 and DRD3 agonist piribedil treatment.
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lncRNA TINCR SNPs and Expression Levels Are Associated with Bladder Cancer Susceptibility Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2021-01-18 Chuanbing Xu; Min Liu; Dongsheng Jia; Tingting Tao; Dongfang Hao
Objective: The long-chain noncoding RNA (lncRNA) TINCR has been associated with the development and progression of bladder cancer. In this study, we analyzed the correlation between lncRNA TINCR single-nucleotide polymorphisms (SNPs) and bladder cancer susceptibility risk.
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Methylation of the Sclerostin (SOST) Gene in Serum Free DNA: A New Bone Biomarker? Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2021-01-18 Alvaro Del Real; Flor M. Perez-Campo; María Isabel Perez-Nuñez; Carolina Sañudo; Ana Santurtun; Carmen Garcia-Ibarbia; M. Teresa Garcia-Unzueta; Mario F. Fraga; Agustin F. Fernandez; Maria Carmen Valero; Esther Laguna; José A. Riancho
Introduction: Cell-free DNA (cfDNA) methylation is an important molecular biomarker, which provides information about the regulation of gene expression in the tissue of origin. There is an inverse correlation between SOST gene methylation and expression levels.
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Gene Environment Interactions Between the COL9A1 Gene and Maternal Drinking of Alcohol Contribute to the Risk of Congenital Talipes Equinovarus Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2021-01-18 Jianwu Zhao; Fei Cai; Peng Liu; Jianjiang Wei; Qiang Chen
Background: Previous studies have indicated that both genetic and environmental factors contribute to the risk of congenital talipes equinovarus (CTEV). The COL9A1 gene encodes one of the three alpha chains of type IX collagen, which is a key collagen component of hyaline cartilage. Our study aimed to evaluate the effect of COL9A1 gene polymorphisms on susceptibility to CTEV in the Han Chinese population
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Distribution of the ACE1 D Allele in the Bosnian–Herzegovinian Population and its Possible Role in the Regional Epidemiological Picture of COVID-19 Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2021-01-18 Merisa Cenanovic; Serkan Dogan; Adna Asic; Larisa Besic; Damir Marjanovic
Background: The human angiotensin I converting enzyme 1 (ACE1) gene insertion/deletion (I/D) polymorphism is classified based on the presence or absence of a 287 bp Alu sequence. The ACE1 D allele is associated with higher ACE1 concentrations in tissues. Previous research has shown that susceptibility to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is primarily determined
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Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2021-01-18 Selma Demir; Sinem Yalçıntepe; Emine İkbal Atlı; Aslıhan Sanrı; Ruken Yıldırım; Filiz Tütüncüler; Mehmet Çelik; Engin Atlı; Şebnem Özemri Sağ; Damla Eker; Şehime Temel; Hakan Gürkan
Objective: Osteogenesis imperfecta (OI) includes a group of disorders characterized by susceptibility to bone fractures with different severities. The increasing number of genes that may underlie the disorder, along with the broad phenotypic spectrum that overlaps with other skeletal diseases, provided a compelling case for the use of high-throughput sequencing (HTS) technology as an aid to OI diagnoses
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Identifying FBLN1 (Gene ID: 2192) as a Potential Melanoma Biomarker for Melanoma based on an Analysis of microRNA Expression Profiles in the GEO and TCGA Databases Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2021-01-18 Xiao-Tian Liu; Tian-Tian Liu; Meng-Yuan Wu; Qing-Xi Chen; Jiang-Xing Zhuang; Qin Wang
Aims: We analyzed and compared the gene expression profiles (GSE92763) from normal melanocytes with malignant melanoma cell lines to identify genes that were differentially expressed that could serve as potential biomarkers for melanoma diagnosis.
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Improvement of a Rapid and Highly Sensitive Method for the Diagnosis of the Mitochondrial m.1555A>G Mutation Based on a Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2021-01-18 Yuichi Isaka; Shin-ya Nishio; Eiji Hishinuma; Masahiro Hiratsuka; Shin-ichi Usami
Aims: Pathogenic variants in mitochondrial DNA are known to be associated with sensorineural hearing loss (SNHL) and aminoglycoside-induced HL. Among them, the m.1555A>G mutation is the most common. Thus, a rapid and easy companion diagnostic method for this mutation would be desirable to prevent HL caused by aminoglycoside therapy. In this study, we report an improved protocol for the single-stranded
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Possible Association of PER2/PER3 Variable Number Tandem Repeat Polymorphism Variants with Susceptibility and Clinical Characteristics in Pancreatic Cancer Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-12-29 Hasan Dagmura; Serbulent Yiğit; Ayşe Feyda Nursal; Esra Duman; Ozge Gumusay
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 developing cancer. The present case–control research was carried out to estimate the possible association between PERIOD2/PERIOD3 (PER2/PER3)
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Tumor Necrosis Factor Alpha Gene Polymorphisms Increase Susceptibility to Adenovirus Infection in Children and Are Correlated with Severity of Adenovirus-Associated Pneumonia Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-12-16 Shouyuan Zhang; Lu Zhan; Yanyan Zhu; Hong Sun; Xiujuan Xu
Objective: To study the relationships between single nucleotide polymorphisms (SNPs) in the intron of the tumor necrosis factor α (TNFα) gene and the susceptibility and severity of disease associated with adenovirus infection in children.
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Association of rs2862851 in TGFA Gene with Peripheral TGFA Levels and the Severity of Knee Osteoarthritis in the Han Chinese Population Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-12-16 Guofeng Cui; Dan Liu; Rong Wei; Junlong Wu; Ruiyu Liu; Kunzheng Wang
Background: Osteoarthritis (OA) is a complex joint disorder characterized by sclerosis of subchondral bone. The knee is one of the most commonly affected joints. Given that the genetic mechanisms underlying knee OA remain elusive, our study aims were to first confirm the association of the TGFA gene alleles with the risk of knee OA and, second, to evaluate the relationship between peripheral TGFA concentrations
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Clinical Effect of Driver Mutations of KRAS, CDKN2A/P16, TP53, and SMAD4 in Pancreatic Cancer: A Meta-Analysis Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-12-16 Yujun Gu; Yayun Ji; Hui Jiang; Ganbin Qiu
Objective: To evaluate the prognostic value of driver mutations in the KRAS, CDKN2A/P16, TP53, and SMAD4 genes in pancreatic cancer to aid in the design of therapeutic strategies.
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Association of ABCB1 and CYP450 Gene Polymorphisms and their DNA Methylation Status with Steroid-Induced Osteonecrosis of the Femoral Head in the Chinese Population Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-12-16 Ronglan Huang; Qinghao Zhan; Wenbin Hu; Renmin Yang; Nan Cheng; Yongsheng Han; Xiuyu Yue
Objective: Osteonecrosis of the femoral head (ONFH) is a severe pathological state with multiple etiologies. Steroid hormone metabolism-related genes play an important role in ONFH. The aim of this study was to investigate the relationships between polymorphisms of the drug-metabolizing enzyme gene, cytochrome P450 (CYP450), and the drug transporter gene, ATP-binding cassette subfamily B member 1 (ABCB1)
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Pretreatment to Posttreatment Hypoxia Inducible Factor-1α Ratios as a Potentially Predictive Marker for First-Line Treatment in Nonsmall Cell Lung Cancer Patients without Known Driver Mutations Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-12-16 Mingming Hu; Tongmei Zhang; Meng Gu; Jie Li; Hongmei Zhang; Qunhui Wang; Fanbin Hu; Yuan Yang; Baolan Li
Background: Hypoxia inducible factor-1α (HIF-1α) and vascular endothelial growth factor (VEGF) are key angiogenic regulatory factors. The aim of this study was to identify the most useful prognostic angiogenic factors in advanced nonsmall cell lung cancer (NSCLC) without known driver gene mutations.
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A Shared Susceptibility Locus in the p53 Gene for both Gastric and Esophageal Cancers in a Northwestern Chinese Population Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-12-16 Juan Cao; Zhiqiang Chen; Chaoyong Tian; Jia Yu; Hongfei Zhang; Jingwen Yang; Wenjun Yang
Background: Upper gastrointestinal tract cancers are the leading causes of cancer-related deaths in Northwest China and they share many similarities in terms of histological type, risk factors, and genetic variants. We hypothesized that shared common single-nucleotide polymorphisms (SNPs) in the p53 pathway exist between patients with gastric and esophageal cancer (EC) patients.
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The T-182C Polymorphism Enhances Promoter Activity of the Norepinephrine Transporter Gene, but may not be Associated with Antidepressant Response Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-12-16 Xiaofeng Zhao; Wenhui Cui; Qian Liu; Suxia Cao; Jianyue Pang; Hengfen Li
Background: Previous evidence has suggested that norepinephrine transporter (NET) gene (solute carrier family 6, member 2 [SLC6A2]) polymorphisms are involved in antidepressant response. Specifically, the polymorphism T-182C (rs2242446) located in the promoter region of SLC6A2 has been found to be associated with antidepressant response in multiple ethnic backgrounds. However, the results are inconsistent
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Clinical Significance of POM121 Expression in Lung Cancer Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-12-16 Shidong Zhang; Chuanjun Zheng; Di Li; Chunhua Bei; Huixia Zhang; Run Tian; Xin Song; Xiaonian Zhu; Shengkui Tan
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.
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The SELS rs34713741 Polymorphism Is Associated with Susceptibility to Colorectal Cancer and Gastric Cancer: A Meta-Analysis Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-12-16 Jin Li; Yi Zhu; Yuan Zhou; HongGang Jiang; ZhiHeng Chen; BoHao Lu; XuNing Shen
Aims: The selenoprotein S (SELS) gene has been suggested to be an important factor in the development of multiple diseases, including gastric cancer (GC) and colorectal cancer (CRC). However, the association between the SELS gene rs34713741 polymorphism and risk of GC and CRC is inconclusive. Thus, we aimed to investigate the relationship between this polymorphism and the susceptibility to GC and CRC
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Differential Expression of miR-21, miR-23a, and miR-27a, and Their Diagnostic Significance in Egyptian Colorectal Cancer Patients Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-12-16 Sally Farouk; Ahmed Khairy; Ahmed M. Salem; Ahmed F. Soliman; Noha G. Bader El Din
Background: Colorectal cancer (CRC) rates are affected by genetics, ethnicity, and environmental factors; it is considered one of the most aggressive human malignancies with high mortality and morbidity rates worldwide due, in part, to its asymptomatic nature during the early stages of disease.
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Prognostic Role of Circular RNAs Expression in Bladder Carcinoma: A Meta-Analysis Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-11-10 Siyuan Wang; Shengqiang Fu; Qiang Chen; Yutang Liu; Zhilong Li; Ting Sun
Background: Circular RNAs (circRNAs), a type of noncoding RNA, are associated with the occurrence and development of cancers. In recent years, their potential as biomarkers for bladder cancer (BC) has attracted increased attention.
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HnRNPA2/B1 Is a Novel Prognostic Biomarker for Breast Cancer Patients. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-11-10 Yuehong Ma,Lizhu Yang,Rongshan Li
Aims: Heterogeneous nuclear ribonucleoprotein A2/B1 (hnRNPA2/B1) is highly expressed in multiple types of tumor tissues and could potentially be used as a biomarker for the early detection of lung cancer. However, there is little evidence supporting its clinical significance as a prognostic marker in breast cancer.
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Association of Genetic Variation in a Wnt Signaling Pathway Gene (β-Catenin) with Susceptibility to Leukoaraiosis Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-11-10 Binod Kumar Yadav; Renu Yadav; Hyun Goo Kang; Ko Woon Kim; Chan-Hyuk Lee; Byoung-Soo Shin
Aim: Blood–brain barrier (BBB) disruption is the primary initiating cause of cerebral small-vessel diseases including leukoaraiosis (LA). β-Catenin is a key regulator of the BBB and plays an important role in cell–cell adhesion at adherens junctions by interacting with cadherin molecules. Thus, β-Catenin may be a good candidate gene for LA. We performed a genetic analyses to investigate the association
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Variants c.677 C>T, c.1298 A>C in MTHFR, and c.66 A>G in MTRR Affect the Occurrence of Recurrent Pregnancy Loss in Chinese Women Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-11-10 Yan Zhang; Wenli Zhan; Qianyi Du; Li Wu; Hongke Ding; Fenghua Liu; Aihua Yin
Objective: Although genetic variants of key enzymes in the folic acid-methionine metabolic circulation, including methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) were thought to be related to the risk of recurrent pregnancy loss (RPL), the results of recent studies have been inconsistent. Therefore, the present retrospective case–control study was designed to explore
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Identification of Causative Variants Contributing to Nonsyndromic Orofacial Clefts Using Whole-Exome Sequencing in a Saudi Family Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-11-10 Hadiah Bassam Al Mahdi; Sherif Edris; Ahmed Bahieldin; Jumana Y. Al-Aama; Ramu Elango; Bassam Adnan Jamalalail; Heba Jafar Sabbagh
Objectives: Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial malformations observed across the globe. They are classified into three types: (a) cleft palate, (b) cleft lip, and (c) cleft lip and palate. To identify the potential candidate genes contributing to polygenic diseases such as NSOFC, linkage analyses, genome-wide association studies, and genomic rearrangements can be
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A Meta-Analysis of the Association Between the VEGF +936C>T Gene Polymorphism and Digestive System Cancer Susceptibility Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-11-10 Chen Feng; Pingang Li; Fan Zhang; Hua Chen; Peiwu Yu
Background: We aimed to evaluate the association between the vascular endothelial growth factor (VEGF) gene +936C>T polymorphism and digestive system tumors using a meta-analysis.
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Identification of Novel EYS Mutations by Targeted Sequencing Analysis Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-11-10 Wanli Tian; Xiao Li; Ya Li; Luyao Wang; Yeming Yang; Kuanxiang Sun; Wenjing Liu; Bo Zhou; Bo Lei; Xianjun Zhu
Purpose: Retinitis pigmentosa (RP) is an inherited and progressive degenerative retinal disease that often results in severe vision loss and blindness. However, mutations in known RP disease genes account for only 60% of RP cases, indicating that there are additional pathogenic mutations are yet to be identified. We aimed to identify the causative mutations in the eyes shut homolog (EYS) gene in a
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Association of the 5HTTLPR Polymorphism with Obesity in Mexican Women with High Native American Ancestry Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-11-10 Carlos Galaviz-Hernández; Blanca P. Lazalde-Ramos; Gabriela Martínez-Cortés; Héctor Rangel-Villalobos; Gerardo Martínez-Aguilar; Evelia Leal-Ugarte; Valeria Peralta-Leal; Siblie González-Rentería; Martha Rodríguez-Moran; Francia Jaquez-Chairez; Fernando Guerrero-Romero; Martha Sosa-Macías
Aims: The 5HTT gene has been associated with obesity; this study aimed to determine the association between L- and S-alleles at the 5HTTLPR polymorphism with obesity in indigenous Mexican populations.
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Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-10-15 Christopher A Tan,Majorie Jody Westbrook,Rebecca Truty,Daniel J Kvitek,Michael Kennemer,Thomas L Winder,Perry B Shieh
Background: Spinal muscular atrophy (SMA) is traditionally molecularly diagnosed by multiplex ligation-dependent probe amplification or quantitative polymerase chain reaction (qPCR). SMA analyses are not routinely incorporated into gene panel analyses for individuals with suspected SMA or broader neuromuscular indications.
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Genetic Variants of the MTMR9 Gene Are Associated with Nonspecific Intellectual Disability: A Family-Based Association Study Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-10-15 Zhangyan Shi; Xueping Jia; Yajie Tian; Xiaofen Liu; Juanjuan Bai; Yanan Liu; Fuchang Zhang; Junlin Li; Xiaocai Gao; Kejin Zhang
Background: Mutations within the myotubularin-related protein 9 gene (MTMR9) have been identified in several families with nonsyndromic intellectual disability (NSID), a generalized neurodevelopmental disorder; however, the relationship between MTMR9 and NSID needs to be verified using a larger sample size.
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Overexpression of Fatty Acid 2-Hydroxylase is Associated with an Increased Sensitivity to Cisplatin by Ovarian Cancer and Better Prognoses Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-10-15 Ting Qi; Dandan Wu; Zhipei Duan; Chao Chen; Jiajun Qiu; Jia Kang
Background: Recent discoveries indicate that the enzyme fatty acid 2-hydroxylase (FA2H) is associated with biological behavior and can be used for outcome prediction in several types of cancers. Such relevancy, however, between FA2H and ovarian cancer is not clear. Therefore, we carried out this study to compare the expression of FA2H with the clinicopathological features of ovarian cancer.
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Clinicopathological and Prognostic Roles of the Expression Levels of the Programmed Cell Death-1 Gene in Patients with Hepatocellular Carcinoma: A Systematic Review and Meta-Analysis Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-10-15 Jun Yang; Wenguang Zhang; Zhimei Zhang; Fusheng Song; Min Ding; Xiaoling Zhao; Wei Wang; Yuqiong Yang
Background: Multiple studies have explored the prognostic role and clinical significance of the expression of the programmed cell death-1 (PD-1) gene in hepatocellular carcinoma (HCC). However, the results have been inconsistent. This study evaluated PD-1 expression and its clinical significance in patients with HCC, as well as the correlation between HCC pathological features and prognoses.
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Association Analysis Between Common Variants of the TRPM1 Gene and Three Mental Disorders in the Han Chinese Population Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-10-15 Chuanchuan Ma; Xiuli Li; Jianhua Chen; Zhiqiang Li; Jian Guan; Yigang Li; Shankai Yin; Yongyong Shi
Objective: Our study was designed to determine if the TRPM1 gene is associated with any of three mental disorders. The project included a cross disorder meta-analysis and association analysis including 141701 cases and 175248 controls.
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A Novel Mutation in the IL6R Gene Identified in a Family with Asthma Patients. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-10-15 Beat Trueb,Lei Zhuang,Peter M Villiger
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.
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Tacrolimus Starting Dose Prediction Based on Genetic Polymorphisms and Clinical Factors in Chinese Renal Transplant Recipients Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-10-15 Peile Wang; Qiwen Zhang; Xueke Tian; Jing Yang; Xiaojian Zhang
Aims: Tacrolimus has extensive pharmacokinetic variability among patients and a narrow therapeutic window. The U.S. Clinical Pharmacogenetics Implementation Consortium recommends a starting dose for tacrolimus of 0.15–0.3 mg/kg/day, which is much higher compared with 0.05–0.15 mg/kg/day used in China. The purpose of this study was to investigate the influence of clinical factors and single nucleotide
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Screening Consanguineous Families for Hearing Loss Using the MiamiOtoGenes Panel Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-10-15 Abhiraami Kannan-Sundhari; Denise Yan; Kolsoum Saeidi; Afsaneh Sahebalzamani; Susan H. Blanton; Xue Zhong Liu
Background: Hearing loss (HL) is one of the most common and genetically heterogeneous sensory disorders in humans. Genetic causes underlie 50–60% of all HL and the majority of these cases exhibit an autosomal recessive model of inheritance.
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Positive Association of the JAG1 rs1327235 Genotype with Coronary Artery Disease in Men, the Tampere Adult Population Cardiovascular Risk Study. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-10-15 Tarja Kunnas,Seppo T Nikkari
Aims: The intronic single nucleotide polymorphism rs1327235 (A>G) close to the JAG gene has been implicated to be involved in blood pressure physiology in a genome-wide association study. We wanted to study whether it was associated with hypertension and coronary artery disease (CAD) in the Tampere adult population cardiovascular risk study.
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Association of the IL-1B rs1143623 Polymorphism and Cancer Risk: A Meta-Analysis Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-10-15 Wei Zhang; Xiao-Wei Deng; Rui-Jun Tang; Jun-Rong Gu; Hong Wang
Aim: To derive a more precise association between the interleukin-1 beta (IL-1B) gene polymorphism rs1143623 and cancer risk.
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Beyond Cultural Competency Training and Diversity and Inclusion Statements: The Quality of Genetic Testing for Asian Americans. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-09-14 Cathy Duong,Sharon Terry
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The Circular RNA CDR1as Regulates the Proliferation and Apoptosis of Human Cardiomyocytes Through the miR-135a/HMOX1 and miR-135b/HMOX1 Axes. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-09-08 Cheng Chen,Hua Shen,Qiuping Huang,Qing Li
Background: Chronic heart failure (CHF) is a major health burden worldwide, but there are a lack of effective methods for its early diagnosis and prognostic evaluation. Circular RNAs (circRNA), as a class, have been found to regulate gene expression and are implicated in multiple types of diseases. The circRNA, CDR1as, is reported to regulate gene transcription by acting as a microRNA inhibitor. However
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Identification of Potential Hub Genes and Signal Pathways Promoting the Distinct Biological Features of Cord Blood-Derived Endothelial Progenitor Cells Via Bioinformatics. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-09-08 Qian Wang,Shu Chen,Jia Wu,Dingkun Liu,Nanxi Jiang,Bizhou Wang,Jianjia Zhai,Zhihui Liu
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 peripheral blood-derived endothelial progenitor cells (PB-EPCs). However, the underlying molecular mechanisms that produce these differences
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Molecular and Biochemical Parameters Related to Plasma Mannose Levels in Coronary Artery Disease Among Nondiabetic Patients. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-09-08 Aylin Koseler,Idris Arslan,Ramazan Sabirli,Ali Zeytunluoglu,Oğuz Kılıç,Ismail Dogu Kilic
Aims: Nondiabetic patients were studied to determine whether modest elevations in plasma mannose may be associated with a greater incidence of coronary artery disease (CAD).
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Estimates of European American Ancestry in African Americans Using HFE p.C282Y. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-09-08 Ronald T Acton,Howard W Wiener,James C Barton
Background:HFE p.C282Y (chromosome 6p22.2; exon 4, c.845G>A; rs1800562), a hemochromatosis-associated polymorphism in European Americans, is absent in sub-Saharan West African blacks.
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Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-09-08 Busranur Cavdarli,Fatma Nihal Ozturk,Sezen Guntekin Ergun,Mehmet Ali Ergun,Ozlem Dogan,Emriye Ferda Percin
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 SMA-associated alleles, screening can prevent new cases. The aim of the current study was to present the development of a new,
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Common Variants in the ARG1 Gene Contribute to the Risk of Dilated Cardiomyopathy in the Han Chinese Population. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-09-08 Chaomin Li,Liping Wang,Yuanbo Li,Zhang Feng,Qiang Wang,Wei Luo
Background: Arginase I, encoded by the ARG1 gene, is an enzyme that catalyzes the conversion of arginine to ornithine in the urea cycle; mutations in this gene has recently been reported to be associated with dilated cardiomyopathy (DCM) in Pakistan. The present study aimed to investigate the relationship between ARG1 gene mutations and DCM in the Han Chinese population.
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Polymorphisms in the Tumor Necrosis Factor Genes Are Associated with Breast Cancer in the Moroccan Population. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-09-08 Fatima Zahra Aznag,Ezohra Elouilamine,Amal Korrida,El Hassan Izaabel
Background: The multifunctional cytokines of the tumor necrosis factor (TNF) family have been found to be involved in the promotion of inflammatory responses, and to play critical roles in the pathogenesis of inflammatory, autoimmune, and malignant diseases. The aim of the present study was to assess the associations among the TNFα −238 G > A (rs361525), TNFα −308 G > A (rs1800629), and TNFβ +252 A>G
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Sequence Variants in the WNT10B and TP63 Genes Underlying Isolated Split-Hand/Split-Foot Malformation. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-09-08 Muhammad Bilal,Amir Hayat,Muhammad Umair,Asmat Ullah,Sundus Khawaja,Erum Malik,Margit Burmeister,Nousheen Bibi,Umm-E-Kalsoom,Muhammad Iqbal Memon,Sulman Basit,Wasim Ahmad,Bushra Khan
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 three consanguineous Pakistani families showing various types of SHFM-related features.
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Validation of the Hemochromatosis (2SNP+) Direct EUROArray Assay for the Molecular Diagnosis of HFE-Related Hereditary Hemochromatosis. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-09-08 Kok-Siong Poon,Cai-De Lee,Nicholas Tzun-Kit Kok,Karen Mei-Ling Tan
Aim: Two missense variants in the HFE gene, c.845G>A (p.Cys282Tyr) and c.187C>G (p.His63Asp), are commonly screened as part of the diagnostic workup for HFE-related hereditary hemochromatosis (HH) and iron overload. Identification of the two variants can be achieved by polymerase chain reaction (PCR)-based laboratory tests and other methods. Evaluation of the analytical performance of the test is essential
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Metabolic Markers of Chronic Disease States. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-08-18 Garth D Ehrlich
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Association Between Genetic Polymorphisms of CR2 Gene and the Risk of Steroid-Induced Osteonecrosis of the Femoral Head in the Chinese Han Male Population. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-07-31 Zandong Zhao,Liang Zhang,Xin Kang,Jiang Zheng,Bin Tian
Background: Multiple lines of evidence have suggested that genetic factors may contribute to steroid-induced osteonecrosis of the femoral head (SONFH). Complement receptor 2 (CR2), constituting a family of regulators of complement activation, has been recently reported to be associated with osteonecrosis of the femoral head (ONFH) in Koreans. The aim of this study was to evaluate the relationships
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Elucidation of the Mechanism by Which a ADAMTS5 Gene MicroRNA-Binding Site Single Nucleotide Polymorphism Affects the Risk of Osteoarthritis. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-07-31 Kedi Weng,Minjuan Luo,Dahai Dong
Purpose: The aim of this study was to investigate the relationship between single nucleotide polymorphisms (SNPs) within the 3′ untranslated region of the microRNA (miRNA)-binding site of the ADAM metallopeptidase with thrombospondin type 1 motif 5 (ADAMTS5) gene and the risk of knee osteoarthritis (KOA) and its mechanism.
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A Novel Nonsense Mutation in the EXT2 Gene Identified in a Family with Hereditary Multiple Osteochondromas. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-07-31 Zhonghua Chen,Weiwei Ruan,Menglu Li,Li Cao,Jianwei Lu,Fuhua Zhong,Qing Bi
Aims: Identification of genetic mutations linked to hereditary multiple osteochondromas (HMO) is crucial for understanding the molecular mechanisms leading to disease pathogenesis. In this study, we investigated four patients and eight healthy individuals from a family with HMO.
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Screening and Identification of Key Biomarkers in Inflammatory Breast Cancer Through Integrated Bioinformatic Analyses. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-07-31 Junqiang Wu,Qing Lv,Hu Huang,Mingjie Zhu,Dong Meng
Background: Inflammatory breast cancer (IBC) is a rare type of breast cancer with poor prognoses, moreover its pathogenesis is not entirely clear. The aim of this study was to identify key genes of IBC, which might serve as diagnostic biomarkers and/or therapeutic targets.
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Association of the Genetic Polymorphisms rs6259 and rs727428 of the SHBG Gene with Polycystic Ovary Syndrome Risk: A Meta-Analysis. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-07-31 Xihong Liao,Shujun Cao
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 SHBG rs6259 and rs727428 polymorphisms on PCOS risk.
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Serum Level and Gene Expression of Interleukin-15 Do Not Correlate with Villous Atrophy in Celiac Disease Patients. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-07-31 Elham Aghamohamadi,Parviz Kokhaei,Mohammad Rostami-Nejad,Fatemeh Pak,Kamran Rostami,Afshin Moradi,Mohamad Amin Pourhoseingholi,Vahid Chaleshi,Andrea Masotti,Mohammad Reza Zali
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.
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Risk of Nasopharyngeal Carcinoma Associated with Single Nucleotide Polymorphisms in the MicroRNA Binding Site of SGK3. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-07-31 Huizhen Zheng,Liping Wu,Xiaodan Wang,Qin Chen
Objective: Serum/glucocorticoid regulated kinase is a serine/threonine kinase that is involved in regulating cell proliferation, apoptosis, the cell cycle, and ion channel function. The aim of this study was to analyze the relationship between single nucleotide polymorphisms (SNPs) in the microRNA (miRNA) binding site of the SGK3 gene and the risk of nasopharyngeal carcinoma (NPC).
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Clinical Exome Sequencing Identifies a Novel Mutation of the GREB1L Gene in a Chinese Family with Renal Agenesis. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-07-31 Ancong Wang,Baoju Ji,Fengxia Wu,Xiangyu Zhao
Background: Renal agenesis (RA) is one of the most severe congenital anomalies of the kidney and urinary tract; it is known to be highly genetically heterogeneous. The purpose of this study was to explore the clinical significance of genetic diagnostics in a Chinese RA family.
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Coexistence of Fragile-X Syndrome, 8p23.1 Deletion, and Balanced Translocation t(7;10)(p10;q24) in a Single Family. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-07-31 Hernán Cortés,Mariana Reyes-Rosales,Antonio J Rojas-Velasco,Brenda García-Juárez,Yessica S Tapia-Guerrero,Silvia Arenas-Diaz,Norberto Leyva-García,Julio J Macías-Gallardo,Paul Carrillo-Mora,Jonathan J Magaña
Aims: Fragile-X syndrome (FXS) is the most common inherited form of intellectual disability; it is caused by an abnormal CGG-repeat expansion at the FMR1 gene. However, a few cases of girls with mutations in the FMR1 gene have been reported in the literature. In this study, we describe the clinical and genetic assessment of a family who exhibits the unusual coexistence of FXS, an 8p23.1 deletion, and
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Privacy in the Coronavirus Era. Genet. Test. Mol. Biomark. (IF 1.346) Pub Date : 2020-07-14 Jennifer Labs,Sharon Terry