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Genetic Testing and Molecular Biomarkers

Xuan Shu, Shenyou Shu, Hongqiu Cheng
BACKGROUND: Epithelial-mesenchymal transition (EMT) of the medial edge epithelium (MEE) occurs through fusion of the palatal shelves and is a crucial step in palatogenesis. The key genes, however, and the related signaling pathway of EMT are not yet fully understood. Therefore, the aim of this study was to reveal the key genes and the related signaling pathway of EMT during palatal fusion. MATERIALS AND METHODS: C57BL/6J mice at embryonic gestation day 14.5 (E14...
February 15, 2019: Genetic Testing and Molecular Biomarkers
Martha Rocio Hernández-Preciado, María Cristina Morán-Moguel, Ingrid Patricia Dávalos-Rodríguez, Christian Michel Enríquez-Barajas, Juan Paulo Valdovinos-Maravilla, Ana Lilia Díaz-Pérez, Daniel Efraín Silva-Castro, Laura González-López, Jorge Ivan Gámez-Nava, Mario Alberto Aceves-Aceves, Mario Salazar-Páramo
AIM: This present study evaluated the dihydrofolate reductase (DHFR) gene-829C-T polymorphism, plasma DHFR concentrations, and miRNA-24 sequence in association with response to methotrexate (MTX) treatment in Mexican patients with rheumatoid arthritis (RA). METHODS: A total of 135 women with RA were classified as responders (disease activity score [DAS28] <3.2) or nonresponders to MTX (DAS28 > 3.2). We determined the genotype of the patients using the polymerase chain reaction-restriction fragment length polymorphism method...
February 13, 2019: Genetic Testing and Molecular Biomarkers
Taimour Langaee, Nihal El Rouby, Lynda Stauffer, Cheryl Galloway, Larisa H Cavallari
AIMS: This study was designed to develop a high-resolution melting (HRM) analysis-based cardiovascular (CV) pharmacogenetics (PGx) genotyping panel for the Canon DNA Genetic Analyzer multiplex genotyping platform and cross-validate its performance with the TaqMan® -based OpenArray® method. METHODS: The CV PGx genotyping panel containing 17 single nucleotide polymorphisms (SNPs) selected from 5 genes (CYP2C9, CYP2C19, CYP4F2, SLCO1B1, and VKORC1) and the CYP2C cluster was used to compare genotyping results between analysis methods...
February 13, 2019: Genetic Testing and Molecular Biomarkers
Mona Mahfood, Walaa Kamal Eddine Ahmad Mohamed, Abdullah Al Mutery, Abdelaziz Tlili
AIMS: Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of hereditary deafness. Despite its frequency, the diagnosis of this disorder continues to be a challenging task given its extreme genetic heterogeneity. The purpose of this study was to identify the causative mutation in a consanguineous United Arab Emirates (UAE) family with ARNSHL. MATERIALS AND METHODS: Clinical exome sequencing (CES) followed by segregation analysis via Sanger sequencing was used to identify the causative mutation...
February 13, 2019: Genetic Testing and Molecular Biomarkers
Maria Tziastoudi, Ioannis Stefanidis, Konstantinos Stravodimos, Elias Zintzaras
AIMS: Diabetic nephropathy (DN) has become a serious public health problem. Genetic factors are involved in the pathogenesis of DN, but the exact mode of inheritance is still unknown. Genome-wide linkage scans (GWLS) have produced inconclusive or inconsistent results. In an effort to test consistency and provide more conclusive results, we applied a heterogeneity-based genome search meta-analysis (HEGESMA) to GWLS regarding DN. MATERIALS AND METHODS: We combined results from eight GWLS in the primary analysis and nine GWLS for a conditional analysis about DN for both diabetes types, as well as in each type of diabetes and ethnicity in subgroup analyses...
January 29, 2019: Genetic Testing and Molecular Biomarkers
Aline Amaro, Daniela Polerá, Francisco Winter Dos Santos Figueiredo, Bianca Bianco, Denise Maria Christofolini, Caio Parente Barbosa
AIMS: To correlate differences in estradiol levels in serum and follicular fluid with genetic variants and to determine if they play a role in the results following assisted reproductive technology (ART). PATIENTS AND METHODS: A cross-sectional study was developed at the Ideia Fértil Institute of Reproductive Health. Two hundred two female patients were selected and underwent controlled ovarian hyperstimulation cycles. Patients for this study were chosen based on their male partners' infertility...
January 28, 2019: Genetic Testing and Molecular Biomarkers
Shi-Liang Han, Yun-Jing Zhang, Ming Zhou, Chong Luan, Pan Wang, Lifeng Zhai
OBJECTIVE: To investigate the relationship between single nucleotide polymorphisms (SNPs) of protease-activated receptor 2 (PAR-2) and the susceptibility to knee osteoarthritis (KOA) and synovial expression of inflammatory factors in the Chinese Han population. METHODS: Three hundred fifty KOA patients (KOA group) and 345 healthy volunteers (control group) were recruited for the study. Five milliliters of venous blood was taken from each subject to detect the PAR-2 rs1529505, rs631465, and rs2242991 locus genotype...
January 28, 2019: Genetic Testing and Molecular Biomarkers
Deborah Cragun, Anne Weidner, Joy Kechik, Tuya Pal
AIMS: This study compared facilitators and barriers to genetic testing and determined awareness about the Genetic Information Nondiscrimination Act (GINA) across young Hispanic and non-Hispanic white (NHW) breast cancer (BC) survivors. MATERIALS AND METHODS: Women diagnosed with BC of age ≤50 years in 2009-2012 were recruited through the Florida State Cancer Registry to complete a questionnaire. RESULTS: Of the 1182 participants, 61% (174/285) Hispanic versus 65% (580/897) NHW had Hispanic BC testing...
January 24, 2019: Genetic Testing and Molecular Biomarkers
Dazhi Wang, HuaQiang Liu, Chunling Ren, Lanying Wang
BACKGROUND: The ABRA C-terminal like (ABRACL) protein belongs to a novel family of low-molecular weight proteins that increase actin dynamics and cell motility. It is involved in various diseases including cancer; however, its role in gastric cancer is unclear. In this study, the expression of ABRACL in gastric cancer and its relationships with patients' clinicopathological features and survival are examined. METHODS: Sample expression profiles were downloaded from the Gene Expression Omnibus database and the Cancer Genome Atlas...
January 24, 2019: Genetic Testing and Molecular Biomarkers
Tatiana Burjanivova, Bibiana Malicherova, Marian Grendar, Eva Minarikova, Robert Dusenka, Barbora Vanova, Martina Bobrovska, Tatiana Pecova, Igor Homola, Zora Lasabova, Lukas Plank
AIMS: About 50% of melanomas have the BRAFV600E mutation. This mutation is an attractive therapeutic target. The aims of our study were to detect BRAFV600E mutations within circulating cell-free DNA in plasma ("liquid biopsy") by a droplet digital PCR (ddPCR) method, and to investigate how well the Breslow-Clark score can be predicted by ddPCR. MATERIALS AND METHODS: We analyzed 113 patients with malignant melanoma. ddPCR was performed using the QX200 system (BIO-RAD® , Hercules)...
January 24, 2019: Genetic Testing and Molecular Biomarkers
Yanrong Li, Huiping Yuan, Liang Sun, Qi Zhou, Fan Yang, Ze Yang, Deping Liu
AIMS: β-Adrenergic receptors (ADRBs) play a pivotal role in cardiovascular disease. Recently, genetic polymorphisms of ADRB1 and ADRB2 have been suggested to be associated with cardiovascular events and all-cause mortality in coronary artery disease (CAD) patients, but the results of relevant studies are inconsistent and controversial. Therefore, we performed a meta-analysis to investigate the association between ADRB1 and ADRB2 polymorphisms with cardiovascular events and all-cause mortality in CAD patients...
January 22, 2019: Genetic Testing and Molecular Biomarkers
Huaizeng Chen, Hanzhi Wang, Jia Liu, Qi Cheng, Xiaojing Chen, Feng Ye
AIM: This study investigated the association of the human 8-oxoguanine glycosylase 1 (hOGG1) Ser326Cys polymorphism with risk of cervical squamous cell carcinoma (CSCC) and high-risk human papilloma virus (HR-HPV) infection. BACKGROUND: The hOGG1 Ser326Cys polymorphism is reported to be correlated with the risk of several cancers. However, there are reports that have found no significant differences in the frequency of the hOGG1 Ser326Cys between cervical carcinoma patients and controls...
January 16, 2019: Genetic Testing and Molecular Biomarkers
Sharon F Terry, Anne Marie Westreich
No abstract text is available yet for this article.
December 28, 2018: Genetic Testing and Molecular Biomarkers
Yunxia Zhang, Siyang Zhang, Dongjing Yan, Hong Pan, Beihong Liu, Tengyan Li, Xianshou Wang, Wangwei Cai, Binbin Wang
BACKGROUND: There has been recent recognition that the GSTM1 gene is associated with successful aging and longevity. It has been hypothesized that individuals with a GSTM1 deletion are at a greater risk for developing a plethora of diseases. This study was carried out to investigate the association between the rs574344 single nucleotide polymorphism, an expression quantitative trait locus of GSTM1, and longevity in the Han Chinese population. MATERIALS AND METHODS: We performed a case-control study that comprised 526 long-lived subjects (>97 years of age) and 783 younger subjects (aged 19-80 years) from the general population who served as controls...
December 27, 2018: Genetic Testing and Molecular Biomarkers
Liang Ming, Yangxia Wang, Wei Lu, Ting Sun
BACKGROUND: Hearing impairment is one of the most common neurosensory disorders afflicting humans. Approximately half of all cases have a genetic etiology. The distribution and frequency of genetic mutations that cause deafness differ significantly by ethnic group and geographic region. METHODS: 130 sporadic nonsyndromic hearing loss (NSHL) children from the Henan province were subjected to microarray-based mutation detection. Nine pathogenic mutations were detected in four of the most common deafness-related genes (GJB2, GJB3, SLC26A4, and MT-RNA1)...
December 27, 2018: Genetic Testing and Molecular Biomarkers
Mustafa Ertan Ay, Özlem İzci Ay, Filiz Evşen Çayan, Sevinç Tekin, Ümit Karakaş, Didem Derici Yildirim, Mehmet Emin Erdal
AIM: The aim of the study was to investigate the association between killer cell immunoglobulin-like receptor (KIR) gene polymorphisms and unexplained recurrent pregnancy loss (URPL). MATERIALS AND METHODS: This study included 70 URPL patients with a history of two or more miscarriages and 70 healthy multiparous women as a control group. KIR genotyping was performed in all subjects for the KIRs 2DL1-4 and 2DS1-5 genes using polymerase chain reaction with sequence-specific primers...
December 26, 2018: Genetic Testing and Molecular Biomarkers
Weiwei Song, Haibo Tan, Shifu Wang, Yun Zhang, Yueping Ding
OBJECTIVE: To investigate the relationship between the high mobility group box protein B1 (HMGB1) single nucleotide polymorphisms (SNPs) rs1412125, rs2249825, and rs1045411 with pneumonia in terms of susceptibility, severity, and inflammatory response. METHODS: The genotypes of HMGB1 rs1412125 (-1615T > C), rs2249825 (3814C > G), and rs1045411 (2262C > T) loci in 328 patients with community-acquired pneumonia (CAP) and 317 healthy subjects were analyzed by Sanger sequencing...
December 18, 2018: Genetic Testing and Molecular Biomarkers
Wanxin Tang, Zheng Wang, Yiling Cao, Dongmei Zhang, Xuhua Mi
BACKGROUND: Membranous nephropathy (MN) is one of the most common pathologies of the nephrotic syndrome. MN is closely associated with the autoimmune response but its molecular mechanism remains unclear. Bioinformatic network analysis can be used to identify disease-related hub genes. METHODS: The microarray data set GSE47183 of patients with MN containing 21 MN samples and 13 control samples that were obtained from the Gene Expression Omnibus database. Differentially expressed genes (DEGs) were identified using the limma package...
December 8, 2018: Genetic Testing and Molecular Biomarkers
Syed Fawad Ali Shah, Muhammad Jadoon Khan, Tahir Iqbal, Sumaira Akram, Farah Waheed, Humayoon Shafique Satti, Muhmmad Arshad Rafiq, Sabir Hussain
BACKGROUND: Genetic polymorphisms in the human arginase-1 (ARG1) gene locus and their effects on cardiovascular disease have not been thoroughly elucidated. The aim of the present study was to investigate the association of the variant ARG1 alleles rs2781666 and rs2781667 with coronary artery disease (CAD). METHODS: ARG1 rs2781666G/T and rs2781667C/T polymorphisms were characterized in a case-control study consisting of 200 complex Pakistani families with CAD history...
December 8, 2018: Genetic Testing and Molecular Biomarkers
Ruben Daniel Arellano Perez Vertti, Lizette Sarai Aguilar Muñiz, Javier Morán Martínez, Faviel Francisco González Galarza, Rafael Arguello Astorga
AIMS: (1) To evaluate the association between type 2 diabetes mellitus (T2D) and primary knee osteoarthritis (KOA) and (2) to compare synovial fluid (SF) cartilage oligomeric matrix protein (COMP) concentrations and glycemic control parameters in patients with T2D, with and without primary KOA. METHODS: A total of 231 individuals were included in this study. Primary KOA was confirmed according to the criteria established by the American College of Rheumatology. The presence of T2D was determined by medical history...
December 8, 2018: Genetic Testing and Molecular Biomarkers
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