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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
Susanne B Haga, Bethany Friedman, Gabriele Richard
The use of sequencing technologies has greatly expanded in both research and clinical settings. The generation of voluminous datasets has raised several issues regarding data sharing and access. Current regulations require clinical laboratories and some research laboratories to provide access to test data, including sequencing data, directly to patients upon request. There is some controversy over whether this access right may be somewhat broader, encompassing research data as well-a question beyond the scope of this article...
October 18, 2017: Genetic Testing and Molecular Biomarkers
Haonan Li, Peng Jin, Qian Hao, Wei Zhu, Xia Chen, Ping Wang
OBJECTIVES: Waardenburg syndrome (WS) is a rare autosomal dominant disorder associated with pigmentation abnormalities and sensorineural hearing loss. In this study, we investigated the genetic cause of WSII in a patient and evaluated the reliability of the targeted next-generation exome sequencing method for the genetic diagnosis of WS. METHODS: Clinical evaluations were conducted on the patient and targeted next-generation sequencing (NGS) was used to identify the candidate genes responsible for WSII...
October 18, 2017: Genetic Testing and Molecular Biomarkers
Eldon Spackman, Sebastian Hinde, Laura Bojke, Katherine Payne, Mark Sculpher
AIMS: New sequencing technologies allow increased opportunities to use genomic-based diagnostic tests (genomic tests) in routine clinical practice, which will impact healthcare budgets and patients' outcomes. This article aims to generate a list of recommendations on how the principles and methods of cost-effectiveness analysis (CEA) can be used to quantify the costs and benefits of genomic tests. METHODS: A systematic literature search identified publications describing the use of CEA to evaluate genomic tests...
October 13, 2017: Genetic Testing and Molecular Biomarkers
Karin B Mirzaev, Dmitry A Sychev, Kristina A Ryzhikova, Olga D Konova, Suleiman N Mammaev, Daniyal M Gafurov, Grigorij N Shuev, Elena A Grishina, Zhannet A Sozaeva
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 involved 186 healthy, unrelated, and chronic medication-free volunteers (53 males and 133 females) of the three ethnic groups in the Dagestan Republic: 46 Laks, 90 Avars, and 50 Dargins...
October 12, 2017: Genetic Testing and Molecular Biomarkers
Altaf A Kondkar, Taif A Azad, Faisal A Almobarak, Hatem Kalantan, Tahira Sultan, Saleh A Al-Obeidan, Khaled K Abu-Amero
AIMS: To conduct a case-control study to investigate the association between the polymorphism rs11656696 located in the growth arrest-specific 7 gene on human chromosome 17p13.1 and primary open angle glaucoma (POAG). METHODS: The polymorphism rs11656696 was genotyped using the TaqMan(®) assay in 187 subjects comprising 92 unrelated POAG cases and 95 controls of Saudi Arabian origin. RESULTS: Association analysis between cases and controls revealed no significant genotype distribution under additive (p = 0...
October 12, 2017: Genetic Testing and Molecular Biomarkers
Abdelaziz Tlili, Abdullah Al Mutery, Walaa Kamal Eddine Ahmad Mohamed, Mona Mahfood, Hassen Hadj Kacem
AIM: Mutations in the gap junction protein beta 2 (GJB2) gene are responsible for more cases of nonsyndromic recessive hearing loss than any other gene. The purpose of our study was to evaluate the prevalence of GJB2 mutations among affected individuals from United Arab Emirates (UAE). METHODS: There were 50 individuals diagnosed with hereditary hearing loss and 120 healthy individuals enrolled in the study. The Sanger sequencing method was used to screen the GJB2 coding region in all affected individuals...
October 10, 2017: Genetic Testing and Molecular Biomarkers
Mirna Gisel González-Mercado, Fernando Rivas, M Patricia Gallegos-Arreola, M Cristina Morán-Moguel, Mario Salazar-Páramo, Laura González-López, J Iván Gámez-Nava, J Francisco Muñoz-Valle, Ricardo Medina-Coss Y León, Anahí González-Mercado, Mario A Aceves, Nory O Dávalos, Agustín Macías-Chumacera, Ingrid P Dávalos
AIM: To investigate the relationships of polymorphisms in genes whose protein products are related in the metabolic pathway of folic acid, particularly MTRR A66G, RFC1 G80A, and MTHFR C677T and A1298C, and disease activity in Mexican patients with rheumatoid arthritis (RA) treated with methotrexate (MTX). MATERIALS AND METHODS: Sixty-eight patients with RA were included in the study who were being treated with MTX, either with or without other drugs. In addition to general data, disease activity was measured by the disease activity score 28 (DAS28)...
October 10, 2017: Genetic Testing and Molecular Biomarkers
Wenchuan Xian, Hua Tao, Jianghao Zhao, Jiawu Fu, Wangtao Zhong, Yusen Chen, Haihong Zhou, Keshen Li, Suyue Pan
BACKGROUND: Clusterin (CLU) is implicated in the inflammatory and apoptotic mechanisms of epilepsy, and the CLU gene has been associated with a number of other neurological diseases. In this study, we investigated the genetic association of CLU polymorphisms with epilepsy in a Han Chinese population. METHODS: A total of 249 epileptic patients and 289 healthy controls were included in this study. Three CLU single nucleotide polymorphisms (SNPs: rs11136000, rs9314349, and rs9331949) were selected and genotyped with the SNaPshot assay, and their associations with epilepsy were evaluated...
October 3, 2017: Genetic Testing and Molecular Biomarkers
Fei Liu, Yang-Meng Ou, Ai-Rong Yu, Lei Xiong, Hua-Wen Xin
BACKGROUND: The highly pharmacokinetic variability of tacrolimus makes it difficult to adjust the dose. In the current study, we investigated the influence of gene polymorphisms and other clinical factors on long-term tacrolimus dosing in Chinese renal transplant recipients. METHODS: A total of 276 renal transplant recipients were enrolled. The tacrolimus trough concentration and other clinical variables were recorded for 5 years following transplantation. Eight single nucleotide polymorphisms in four genes (CYP3A5, CYP3A4, ABCB1, and NR1I2) were genotyped using polymerase chain reaction-restriction fragment length polymorphism analysis and sequencing...
September 25, 2017: Genetic Testing and Molecular Biomarkers
Ruolan Zeng, Bin Li, Junhui Huang, Meizuo Zhong, Li Li, Chaojun Duan, Shan Zeng, Jin Huang, Wei Liu, Jingchen Lu, Youhong Tang, Lingming Zhou, Yiping Liu, Jianhuang Li, Zhengxi He, Quan Wang, Youyi Dai
BACKGROUND: Peritoneal carcinomatosis (PC) is an important cause of morbidity and mortality among patients with gastric cancer. Thus, it is important to identify an ideal biomarker for PC. METHODS: Plasma and ascites samples were collected from gastric cancer patients with PC and a control group. Lysophosphatidic acid (LPA) levels were tested and analyzed. RESULTS: The plasma LPA levels of gastric cancer patients with PC were significantly higher than those in gastric cancer patients after radical resection (p = 0...
September 14, 2017: Genetic Testing and Molecular Biomarkers
Kabir Sachdeva, Richard Discutido, Firas Albuz, Rawan Almekosh, Braulio Peramo
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 amplification, array comparative genomic hybridization (aCGH), and semiconductor sequencing were employed. RESULTS: A total of 204 whole-genome-amplified products were tested with an NGS-based protocol, from which 100 samples were used for standardization and to evaluate the quality of the results produced by this new technique...
September 8, 2017: Genetic Testing and Molecular Biomarkers
Paul Lacaze, Ingrid Winship, John McNeil
The variable penetrance of pathogenic variants (PVs) represents a major challenge to the field of human genetics, often complicating clinical decision-making and risk management. Nonpenetrance, the detection of PVs in the absence of disease manifestation, is a common phenomenon, yet, we know very little about the underlying factors, which may protect some individuals and not others. Placing a new focus on the genomic study of the healthy elderly may be pivotal for advancing our understanding of penetrance. Studying those who remain unaffected late into life, despite harboring known genetic risk variants, could provide important insights into disease mechanisms and ultimately inform clinical care, yet, it has received relatively little attention as a research strategy...
September 6, 2017: Genetic Testing and Molecular Biomarkers
Yu Dai, Zhixin Liang, Yulin Li, Chunsun Li, Liangan Chen
OBJECTIVE: Long noncoding RNAs (lncRNAs) are becoming promising biomarker candidates in various diseases as assessed via sequencing technologies. Sepsis is a life-threatening disease without ideal biomarkers. The aim of this study was to investigate the expression profile of lncRNAs in the peripheral blood of sepsis patients and to find potential biomarkers of sepsis. METHODS: A lncRNA expression profile was performed using peripheral blood from three sepsis patients and three healthy volunteers using microarray screening...
September 5, 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
Garth D Ehrlich
No abstract text is available yet for this article.
October 2017: Genetic Testing and Molecular Biomarkers
Sharon F Terry
No abstract text is available yet for this article.
October 2017: Genetic Testing and Molecular Biomarkers
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