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Genetic Testing and Molecular Biomarkers

Hong-Bo Ji, Le-Le Wang, Xiao-Ying Wang, Sheng-Jie Yin, Di Shang, Li-Li Sun, Lei Wang
OBJECTIVE: This case-control study investigated the association of single nucleotide polymorphisms in the PTPN1 gene with susceptibility to esophageal squamous cell carcinoma (ESCC) in Inner Mongolia, China. METHODS: A total of 302 patients living in Inner Mongolia China who were pathologically diagnosed with ESCC between April 2012 and 2016 were selected for the ESCC group; 373 healthy individuals were selected for the control group. The rs2904268 C>G, rs2230605 A>G, and rs16995309 C>T polymorphisms in the PTPN1 gene were detected by bidirectional polymerase chain reaction amplification of specific alleles...
March 13, 2017: Genetic Testing and Molecular Biomarkers
Driss Afilal, Mohamed Amine Basselam, Zahra Brakez, Said Chouham, António Brehm, El Hassan Izaabel
BACKGROUND: The polymorphic cytochrome P450 isoenzymes CYP2C9 and CYP2C19 are involved in the biotransformation of a wide variety of clinical drugs. Their major alleles occur with varying frequencies among different populations worldwide and have been associated with a varied capacity to degrade important therapeutic agents. This gives rise to important individual and interethnic variability in the metabolism and may be the cause for different clinical responses regarding drug administration...
March 10, 2017: Genetic Testing and Molecular Biomarkers
Didem Turgut Cosan, Huseyin Ugur Yazıcı, Emine Colak, Ahu Soyocak, Irfan Degirmenci, Hulyam Kurt, Alparslan Birdane, Ertugrul Colak, Hasan Veysi Gunes
BACKGROUND: Essential hypertension (EH) is defined as worldwide public health problem and one of the important risk factors for development of human coronary artery disease. Increased peripheral arterial resistance is one of the distinguishing characteristics of EH. The extracellular deposition of calcium in the arterial wall is defined as vascular calcification, which results in aortic stiffness and elevation of blood pressure. Regulation of vascular calcification is physiologically limited by γ-carboxylated proteins that regulate mineralization...
March 10, 2017: Genetic Testing and Molecular Biomarkers
Rongrong Wang, Shirui Han, Amjad Khan, Xue Zhang
AIM: To investigate the causative genetic mutations in 12 Pakistani families with nonsyndromic or syndromic hearing loss. METHODS: Mutations in the most common causative gene for hearing loss, GJB2, were evaluated by Sanger sequencing. Targeted next-generation sequencing or whole-exome sequencing was used to analyze the genomic DNA samples from 11 probands with hearing loss. Sanger sequencing was performed to verify all identified variants. RESULTS: We found pathogenic, or likely to be pathogenic, mutations in all 12 families, including six known mutations in GJB2, SLC26A4, LHFPL5, and USH2A and eight novel mutations in ESPN, MYO7A, LRTOMT, PCDH15, USH2A, or EPS8L2...
March 10, 2017: Genetic Testing and Molecular Biomarkers
Wei Ren, Zehua Wu, Ruixin Ma, Zhen Liu, Yingying Wang, Liqun Wu, Shiguo Liu, Zusen Wang
AIM: Interleukin-17 (IL-17) can accelerate the release of many pro-inflammatory cytokines. The purpose of our study was to investigate the potential association between polymorphisms in the IL-17 gene and susceptibility to hepatitis B virus (HBV) infection in the Han Chinese population. METHODS: We recruited 596 HBV-infected patients and 612 ethnically matched controls, who were then genotyped for the IL-17A and IL-17F polymorphisms, rs2275913 and rs763780, respectively, by using TaqMan probe-based real-time polymerase chain reaction...
March 9, 2017: Genetic Testing and Molecular Biomarkers
Wenjing Shao, Yi Yuan, Yuying Li
PURPOSE: Methotrexate (MTX) is one of the most widely used disease-modifying antirheumatic drugs for the treatment of rheumatoid arthritis (RA). However, its efficacy in RA patients is variable and unpredictable. Methylene tetrahydrofolate reductase (MTHFR) is an important enzyme in the MTX pathway and is involved in folate metabolism and DNA synthesis. Several studies have examined the association between the MTHFR C677T polymorphism and MTX toxicity and efficacy in RA, but their conclusions remain controversial...
March 9, 2017: Genetic Testing and Molecular Biomarkers
Gabriela Lizet Reynoso-Villalpando, Jorge Ramón Padilla-Gutiérrez, Angélica Valdez-Haro, Fidel Casillas-Muñoz, José Francisco Muñoz-Valle, Edgar Castellanos-Nuñez, Juan Carlos Chávez-Herrera, Yeminia Valle
AIM: To determine the relationship among the 1846 C>T (rs1205) polymorphism, C-reactive protein (CRP) concentration, and interleukin 6 (IL-6) serum levels in patients with acute coronary syndrome (ACS) from Western Mexico. METHODS: Three hundred participants in the control group (CG) and 300 patients with ACS from Western Mexico were included in the study. Genotyping was performed with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)...
March 9, 2017: Genetic Testing and Molecular Biomarkers
Sharon F Terry
No abstract text is available yet for this article.
March 2017: Genetic Testing and Molecular Biomarkers
Garth D Ehrlich
No abstract text is available yet for this article.
March 2017: Genetic Testing and Molecular Biomarkers
Bernice S Elger, Eva De Clercq
Biobank research has the potential to return results that could have beneficial and even life-saving consequences for participants. This possibility raises some important questions, not only about the ethical duty to return results within a research setting, but also about participants' right to refuse results and researchers' responsibility to respect that choice. This article argues in favor of adopting a return-of-results policy that limits participants' ability to refuse clinically relevant and actionable results...
March 2017: Genetic Testing and Molecular Biomarkers
Davit Chokoshvili, Carmen Belmans, Roxanne Poncelet, Sofie Sanders, Deborah Vaes, Danya Vears, Sandra Janssens, Isabelle Huys, Pascal Borry
AIMS: To explore the views of the Belgian public on various topics surrounding genetics and genetic testing (GT). MATERIALS AND METHODS: A written questionnaire was administered to visitors of the annual cartoon festival in Knokke-Heist, Belgium, during the summer of 2014. The main theme of the festival was challenges and progress in human genetics and it was attended by more than 100,000 visitors. RESULTS: The survey was completed by 1182 respondents, resulting in a demographically diverse sample with a mean age of 48...
March 2017: Genetic Testing and Molecular Biomarkers
Ingrid A Holm, Timothy W Yu, Steven Joffe
A discussion of return of genetic research results requires a common understanding of how final results are generated and what the scope of potential results may be. To this end, we provide a brief overview of the steps by which human genomic data, whether in the clinical or research setting, are generated and interpreted. We cover (1) DNA targeting methods, (2) sequencing, (3) mapping, (4) variant calling, (5) annotation, and (6) interpretation. As powerful as this technology is, we point out technical, scientific, and clinical limitations that inject uncertainty into interpretations based on genotypic data alone...
March 2017: Genetic Testing and Molecular Biomarkers
Gaia Barazzetti, Samuele Cavalli, Lazare Benaroyo, Alain Kaufmann
AIMS: Informed consent and return of research results are among the most debated topics in the biobank literature. We discuss ethical, social, and policy issues associated with returning results in the context of biobanks using a broad consent approach, in the light of data from a qualitative survey of citizens' and physicians' views. MATERIALS AND METHODS: Data were collected through interviews and focus groups to investigate stakeholders' perspectives about a large-scale hospital-based biobank designed to foster biomedical research, including prospective genomics research, and "personalized" medicine...
March 2017: Genetic Testing and Molecular Biomarkers
Eva De Clercq, Jane Kaye, Susan M Wolf, Barbara A Koenig, Bernice S Elger
In many countries around the world, biobanks have become crucial resources for the conduct of biomedical research, facilitating many kinds of research, including international collaborations. The focus of this special issue is on a looming ethical issue that has become a focus of debate-the return of research results and incidental findings to biobank participants. Although the articles in this issue do not provide a final answer to the ethical, legal, and social dilemmas that arise in the context of the return of results, the intent of the collection is to approach this issue from multiple perspectives and within an international context spanning the United Kingdom, continental Europe including Eastern Europe, the United States, and the Middle East...
March 2017: Genetic Testing and Molecular Biomarkers
Gabriel Lázaro-Muñoz, John M Conley, Arlene M Davis, Anya E R Prince, R Jean Cadigan
BACKGROUND: Advances in genomics have led to calls for returning information about medically actionable genes (MAGs) to patients, research subjects, biobank participants, and through screening programs, the general adult population. Which MAGs are returned affects the harms and benefits of every genetic testing endeavor. Despite published recommendations of selection criteria for MAGs to return, scant data exist regarding how decision makers actually apply such criteria. METHODS: The process and criteria used by researchers when selecting MAGs for a preventive genomic sequencing program targeting the general adult population were examined...
March 2017: Genetic Testing and Molecular Biomarkers
Ingrid A Holm
Nowhere are the ethical issues in genomic research more complex than in pediatrics. Balancing the sometime conflicting autonomy of the parent and the child, and the best interest of the family and the child, brings up many challenging issues. Addressing this balance, especially in the context of the child's developing maturity and comprehension, requires deep analysis and discussion. Issues discussed include the impact of genetic information on the family, parental versus the child's autonomy, the best interests of the child versus the family, potential limitations on the parents' right to know or not know information about their child, and changing role of the developing child in return of research results...
March 2017: Genetic Testing and Molecular Biomarkers
Laura A Siminoff, Maureen Wilson-Genderson, Maghboeba Mosavel, Laura Barker, Jennifer Trgina, Heather M Traino
AIMS: Confidentiality of personal identifiers potentially linking the genetic results from biobanking participants back to the donor and donor relatives is a concern. The risks associated with a breach of confidentiality should be ascertained when biobanks collect samples requiring the consent of a family decision maker (FDM) from deceased organ and tissue donors. This article explores FDM knowledge and opinions regarding risks associated with participation in biobanking research in the context of the Genotype-Tissue Expression (GTEx) Project...
March 2017: Genetic Testing and Molecular Biomarkers
Ghiath Alahmad, Kris Dierickx
BACKGROUND AND AIMS: There are many research biobanks in the world, including a small number in the Middle East. The Saudi biobank, one of the newly established biobanks, has just started to collect data and samples in 2016. METHODS: A survey was conducted to assess the opinions of stakeholders regarding the return of individual research results. A total of 180 adults from three different groups (researchers, physicians, and laypeople) participated in this cross-sectional study...
March 2017: Genetic Testing and Molecular Biomarkers
R Jean Cadigan, Teresa P Edwards, Dragana Lassiter, Arlene M Davis, Gail E Henderson
AIMS: Do biobanks enact policies and plans that allow them to anticipate and respond to potential challenges? If a biobank has one such policy or plan, is it likely to have more? Using survey data from 456 U.S. biobanks, we assess four possible indicators of such "forward-thinking." METHODS: We present response frequencies and cross-tabulations regarding policies for return of results and ownership of specimens, and for having a formal business plan and a plan for what happens to specimens if the biobank closes...
March 2017: Genetic Testing and Molecular Biomarkers
Judit Sándor
AIMS: The law has struggled to justify the unilateral use of individual genomic data, as it could never quite fit either into the narrower data protection or the broader privacy frameworks. This article aims to explore this tension by examining rights and interests of biobank participants. METHOD: This article offers a legal analysis, by looking at how the biobank model fits into a privacy rights framework. The Hungarian law is the primary focus of analysis, but reference is made to international legal norms, as well...
March 2017: Genetic Testing and Molecular Biomarkers
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