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Genetic Testing and Molecular Biomarkers

Thomas Frawley, Cathal P O'Brien, Eibhlin Conneally, Elisabeth Vandenberghe, Melanie Percy, Stephen E Langabeer, Karl Haslam
BACKGROUND: The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), consisting of polycythemia vera, essential thrombocythemia, and primary myelofibrosis, are a heterogeneous group of neoplasms that harbor driver mutations in the JAK2, CALR, and MPL genes. The detection of these mutations has been incorporated into the recent World Health Organization (WHO) diagnostic criteria for MPN. Given a pressing clinical need to screen for these mutations in a routine diagnostic setting, a targeted next-generation sequencing (NGS) assay for the detection of MPN-associated mutations located in JAK2 exon 14, JAK2 exon 12, CALR exon 9, and MPL exon 10 was developed to provide a single platform alternative to reflexive, stepwise diagnostic algorithms...
January 11, 2018: Genetic Testing and Molecular Biomarkers
Irena Manolova, Lyuba Miteva, Mariana Ivanova, Todor Kundurzhiev, Rumen Stoilov, Spaska Stanilova
AIMS: We investigated the individual and combined effect of functional TNFA -308G/A and IL10 -1082G/A single nucleotide polymorphisms (SNPs) and their genotypes on the susceptibility to systemic lupus erythematosus (SLE) in a Bulgarian population. MATERIALS AND METHODS: Genotyping for -1082A/G IL10 (rs1800896) and -308G/A TNFA (rs1800629) polymorphisms was performed for 154 SLE patients and 224 healthy controls. RESULTS: An association between SLE and the rs1800629 polymorphism was established under the allelic model (allele A vs...
January 3, 2018: Genetic Testing and Molecular Biomarkers
Lei Li, Tienan Feng, Jinli Qu, Nannan Feng, Yu Wang, Rong-Na Ma, Xue Li, Zhi-Jie Zheng, Herbert Yu, Biyun Qian
OBJECTIVE: To determine if lncRNA expression can be used for the prognoses of patients diagnosed with lung adenocarcinoma (LUAD) patients. METHODS: The Cancer Genome Atlas database was used to identify 409 LUAD patients for whom there was both, gene expression data and relevant clinical information available. LncRNAs were then selected from the expression data through record linkage between the National Center for Biotechnology Information (NCBI) and Ensemble databases...
January 3, 2018: Genetic Testing and Molecular Biomarkers
Zheng Wang, Xiang-Yu Wang, Juan Li, Wen-Wei Zhu
BACKGROUND AND AIMS: The prognostic value of BRCA1-associated protein 1 (BAP1) expression in different cancer types remains controversial. The aim of this study was to identify the prognostic and clinicopathological significance of BAP1 gene expression. MATERIALS AND METHODS: The PubMed, Web of Science, and Embase databases were searched comprehensively for relevant studies. The pooled effects were calculated to investigate the association of BAP1 expression with cancer prognosis and clinicopathological features...
December 21, 2017: Genetic Testing and Molecular Biomarkers
Xiaoyan Qian, Daoxia Guo, Hui Zhou, Jing Qiu, Jie Wang, Chong Shen, Zhirong Guo, Yong Xu, Chen Dong
AIMS: To explore the interactions between PPARG and AGTR1 polymorphisms and their associations with hypertension in the Chinese Han population. METHODS: Seven single nucleotide polymorphisms (SNPs) of the PPARG gene and five SNPs of the AGTR1 gene were selected and genotyped in 1591 unrelated Chinese Han adults. The SNPAssoc package of R was used to analyze the associations between the selected SNPs and hypertension. The potential gene-gene interactions between PPARG and AGTR1 genes were tested by model-based multifactor dimensionality reduction (MB-MDR)...
December 21, 2017: Genetic Testing and Molecular Biomarkers
Fangfang Chen, Shuai Yin, Li Niu, Jun Luo, Bicheng Wang, Zhigao Xu, Guifang Yang
AIM: The aim of this study was to investigate whether CXCR3 expression is associated with: infiltration of dendritic cells (DCs) and CD4+ and CD8+ tumor-infiltrating lymphocytes (TILs); various clinical features; and overall survival (OS) of patients diagnosed with gastric cancer (GC). MATERIALS AND METHODS: The study included 169 GC specimens and 91 corresponding paracancerous tissues. Immunohistochemistry was conducted to determine the expression of CXCR3 and the presence of DCs and CD4+ and CD8+ TILs...
December 21, 2017: Genetic Testing and Molecular Biomarkers
Mina S Khella, Ahmed M Salem, Omar Abdel-Rahman, Amr S Saad
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 cancers. FTO variation is associated with altered adipocytokine expression and oxidative stress inflammation, which may influence asbestos mediated-carcinogenesis. This is the first study to investigate a possible association between this polymorphism and MPM risk...
December 20, 2017: Genetic Testing and Molecular Biomarkers
Fei Wu, Mei Li, Weiyan You, Yu Ji, Xiaobin Cui, Jianming Hu, Yunzhao Chen, Lijuan Pang, Shugang Li, Yutao Wei, Lan Yang, Feng Li
AIMS: Esophageal squamous cell carcinoma (ESCC) is characterized by high prevalence and mortality worldwide, and it is very highly prevalent in China. ESCC is caused by various factors, including microRNAs (miRNAs) whose expression have been shown to play a major role in tumor generation. Single nucleotide polymorphisms (SNPs) in miRNAs could affect susceptibility to numerous cancers. This study aimed to evaluate the relationship between SNPs in miR-124 and ESCC risk in the Chinese Kazakh population...
December 11, 2017: Genetic Testing and Molecular Biomarkers
Oya Sena E Aydos, Yalda Hekmatshoar, Buket Altınok, Tülin Özkan, Onur Şakirağaoğlu, Aynur Karadağ, Fuat Kaplan, Seda Ilgaz, Mehmet Taşpınar, Işıl Yükselen, Asuman Sunguroğlu, Kaan Aydos
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. Protamine polymorphisms have been studied in different populations, but various results have been acquired. MATERIALS AND METHODS: In our study, we examined, for the first time in a Turkish population, the association between protamine gene alleles (PRM1 c...
December 11, 2017: Genetic Testing and Molecular Biomarkers
Liping Ma, Biyang Lan, Lingxiao Guo, Shaoyun Nong, Cuibo Huang, Qiulong Wu, Zhihu Huang
BACKGROUND: Published data regarding the association between GSTM1 and/or GSTT1 gene polymorphisms and esophageal cancer (EC) susceptibility remain inconclusive. To clarify these associations, a meta-analysis was conducted. METHODS: We conducted a comprehensive search in PubMed, Embase, and the China National Knowledge Infrastructure (CNKI) for all such manuscripts published as of May 1, 2017. The pooled odds ratio (ORs) with confidence intervals (95% CI) were estimated for each study to assess the strength of the association...
December 7, 2017: Genetic Testing and Molecular Biomarkers
Altaf A Kondkar, Taif A Azad, Faisal A Almobarak, Hatem Kalantan, Tahira Sultan, Nasser A Alsabaani, Saleh A Al-Obeidan, Khaled K Abu-Amero
AIMS: Variant rs10483727 in the SIX1/SIX6 locus has been significantly associated with primary open angle glaucoma (POAG) in multiple ethnic groups. We conducted a case-control study to investigate the association between this variant and POAG in a Saudi cohort. MATERIALS AND METHODS: Polymorphism rs10483727 was genotyped by using a TaqMan® assay in 186 subjects comprising 92 unrelated POAG cases and 94 controls all of Saudi origin. RESULTS: The "C" allele frequency was 0...
November 30, 2017: Genetic Testing and Molecular Biomarkers
Zhuang-Li Tang, Shuang Wang, Chen Tu, Tian Wang, Cheng-Wen Ma, Yan Liu, Sheng-Xiang Xiao, Xiao-Peng Wang
AIMS: To identify potential novel gene mutations in Chinese patients with dyschromatosis symmetrica hereditaria (DSH). METHODS: We enrolled 8 Chinese patients with familial DSH, 5 Chinese patients with sporadic DSH, and 100 randomly selected healthy individuals in this study. The genome of each participant was extracted from peripheral blood samples. Sanger sequencing was performed after polymerase chain reaction. Comparison between the outcomes and the NCBI database was made, thus novel mutations were identified...
November 29, 2017: Genetic Testing and Molecular Biomarkers
Yuanyuan Ji, Junkuo Li, Pan Li, Li Wang, Haijun Yang, Guozhong Jiang
AIMS: Tumor metastasis is a significant obstacle to curing colorectal cancer (CRC). C/EBPβ is thought to play an important role in CRC invasion and metastasis. In this study, we assessed whether C/EBPβ-mediated tumor invasion was dependent on MMP3, the expression of which is upregulated by C/EBPβ. We then determined whether C/EBPβ upregulation was associated with MMP3 levels and metastatic status in human CRC patients. MATERIALS AND METHODS: A total of 102 patients were recruited for this study...
November 27, 2017: Genetic Testing and Molecular Biomarkers
Hu Zhang, Jiajia Zheng, Hongliang Shen, Yongyi Huang, Te Liu, Hao Xi, Chuan Chen
AIMS: Curcumin can suppress human prostate cancer (HuPCa) cell proliferation and invasion. However, it is not known whether curcumin can inhibit HuPCa stem cell (HuPCaSC) proliferation and invasion. MATERIALS AND METHODS: We used methyl thiazolyl tetrazolium and Transwell assays to examine the proliferation and invasion of the HuPCaSC lines DU145 and 22Rv1 following curcumin or dimethyl sulfoxide (control) treatment. The microRNA (miRNA) expression levels in the DLK1-DIO3 imprinted genomic region in the cells and in tumor tissues from patients with PCa were examined using microarray and quantitative PCR...
November 27, 2017: Genetic Testing and Molecular Biomarkers
Liang Tang, Shiqing Feng, Ruixiao Gao, Chenfu Han, Xiaochen Sun, Yucheng Bao, Wenlong Zhang
AIMS: The aim of the present study was to compare the role of the commercial Xpert Mycobacterium tuberculosis/rifampin (MTB/RIF) test in testing different types of spinal tuberculosis (TB) tissue specimens. METHODS: Pus, granulation tissue, and caseous necrotic tissue specimens from 223 patients who were diagnosed with spinal TB and who underwent curettage were collected for bacterial culture and the Xpert MTB/RIF assay to calculate the positive rate. Bacterial culture and phenotypic drug sensitivity testing (pDST) were adopted as the gold standards to calculate the sensitivity and specificity of the Xpert bacterial detection and drug resistance (DR) test...
November 27, 2017: Genetic Testing and Molecular Biomarkers
Lidiane P Agostini, Elaine Stur, Fernanda M Garcia, Diego P Ventorim, Raquel S Dos Reis, Raquel S Dettogni, Eldamária V W Dos Santos, Gabriela T Peterle, Lucas L Maia, Suzanny O Mendes, Marcos B de Carvalho, Eloiza H Tajara, Flavia de Paula, Marcelo Dos Santos, Adriana M A da Silva, Iúri Drumond Louro
AIMS: Polymorphisms in cell cycle genes are considered prognostic and radiosensitivity markers in patients with head and neck squamous cell carcinoma. Therefore, we have aimed to investigate the relationship of ATM 5557G>A, ATM IVS62 + 60G>A, TP53 215G>C, BCL2-938C>A, TGFβ-509C>T, and TGFβ 29C>T with radiotherapy response. MATERIALS AND METHODS: Genotyping was performed by polymerase chain reaction followed by restriction fragment length polymorphism in 210 patients with oral cavity/oropharynx carcinoma and 101 patients with larynx tumors...
November 14, 2017: Genetic Testing and Molecular Biomarkers
Mirena C Astiazarán, María Cervantes-Sodi, Erick Rebolledo-Enríquez, Oscar Chacón-Camacho, Vanessa Villegas, Juan Carlos Zenteno
AIMS: Osteoporosis-pseudoglioma syndrome (OPPG) is an uncommon autosomal recessive disorder characterized by the rare association of early-onset osteoporosis and severe ocular abnormalities such as persistent fetal vasculature and microphthalmia. Biallelic mutations in the low-density lipoprotein receptor-related protein-5 gene (LRP5) have been associated with OPPG. We present clinical and genetic data of three Mexican OPPG patients, a pair of sibs, and a sporadic case. MATERIALS AND METHODS: Three patients underwent clinical examination, including a complete ophthalmic evaluation...
November 13, 2017: Genetic Testing and Molecular Biomarkers
Paula Carolina Valença Silva, Adriana Vieira Gomes, Lidiane Régia Pereira Braga de Britto, Elker Lene Santos de Lima, Jamile Luciana da Silva, Silvia Maria Lucena Montenegro, Maria Tereza Cartaxo Muniz, Ana Lúcia Coutinho Domingues
AIMS: The proinflammatory cytokine tumor necrosis factor-alpha (TNF-α) is an essential component in the host immune response to infection, and it has been reported to be an important mediator in severe periportal fibrosis (PPF). We hypothesized that the (-G308A) polymorphism of the TNF-α gene is associated with the severity of PPF and that these polymorphisms influence TNF-α expression. METHODS: In this cross-sectional study, we genotyped these polymorphisms within the TNF-α gene in 256 Brazilian subjects infected with Schistosoma mansoni, with different patterns of PPF...
October 31, 2017: Genetic Testing and Molecular Biomarkers
Judita Knez, Katja Lakota, Nina Božič, Renata Okrajšek, Nicholas Cauwenberghs, Lutgarde Thijs, Ivan Kneževič, Bojan Vrtovec, Ija Tomšič, Saša Čučnik, Snežna Sodin-Šemrl, Tatiana Kuznetsova, Jana Brguljan-Hitij
BACKGROUND/OBJECTIVES: Heart failure (HF) is associated with disturbances in mitochondrial energy production. This mitochondrial dysfunction is reflected by depletion of mitochondrial DNA (mtDNA) in different tissues. Our aims were to determine if there was a correlation between mtDNA content measured in myocardial tissue and the easily accessible peripheral blood cells of patients with non-ischemic HF; and to determine if there was a correlation between myocardial mtDNA and left ventricular (LV) ejection fraction...
October 31, 2017: Genetic Testing and Molecular Biomarkers
Sharon F Terry
No abstract text is available yet for this article.
November 2017: Genetic Testing and Molecular Biomarkers
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