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Public health genetics

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https://www.readbyqxmd.com/read/28340513/mendelian-randomisation-implicates-hyperlipidaemia-as-a-risk-factor-for-colorectal-cancer
#1
Henry Rodriguez-Broadbent, Philip J Law, Amit Sud, Kimmo Palin, Sari Tuupanen, Alexandra Gylfe, Ulrika A Hänninen, Tatiana Cajuso, Tomas Tanskanen, Johanna Kondelin, Eevi Kaasinen, Antti-Pekka Sarin, Samuli Ripatti, Johan G Eriksson, Harri Rissanen, Paul Knekt, Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Aarno Palotie, Laura Renkonen-Sinisalo, Anna Lepistö, Jan Böhm, Jukka-Pekka Mecklin, Nada A Al-Tassan, Claire Palles, Lynn Martin, Ella Barclay, Susan M Farrington, Maria N Timofeeva, Brian F Meyer, Salma M Wakil, Harry Campbell, Christopher G Smith, Shelley Idziaszczyk, Timothy S Maughan, Richard Kaplan, Rachel Kerr, David Kerr, Michael N Passarelli, Jane C Figueiredo, Daniel D Buchanan, Aung K Win, John L Hopper, Mark A Jenkins, Noralane M Lindor, Polly A Newcomb, Steven Gallinger, David Conti, Fred Schumacher, Graham Casey, Lauri A Aaltonen, Jeremy P Cheadle, Ian P Tomlinson, Malcolm G Dunlop, Richard S Houlston
While elevated blood cholesterol has been associated with an increased risk of colorectal cancer (CRC) in observational studies, causality is uncertain. Here we apply a Mendelian randomisation (MR) analysis to examine the potential causal relationship between lipid traits and CRC risk. We used single nucleotide polymorphisms (SNPs) associated with blood levels of total cholesterol (TC), triglyceride (TG), low-density lipoprotein (LDL), and high-density lipoprotein (HDL) as instrumental variables (IV). We calculated MR estimates for each risk factor with CRC using SNP-CRC associations from 9,254 cases and 18,386 controls...
March 24, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28334652/does-educational-attainment-shape-reactions-to-genetic-risk-for-alzheimer-s-disease-results-from-a-national-survey-experiment
#2
Matthew A Andersson, Shana Kushner Gadarian, Rene Almeling
While higher education is associated with healthy lifestyles and health literacy, it remains unclear whether education shapes reactions to varying levels of genetic risk for Alzheimer's disease (AD). In this study, participants (N = 701) in the National Genetic Risk Survey Experiment (NGRISE) received a hypothetical genetic risk assessment for AD (ranging from 20 to 80% lifetime risk) and then completed items on their cognitive (perceived threat to health), emotional (general negative affect), and anticipated behavioral (seek information, improve health behaviors, engage in public or private civic action) reactions to this risk...
March 18, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28331081/multiple-sources-of-genetic-diversity-of-influenza-a-viruses-during-the-hajj
#3
Joanna C A Cobbin, Mohammad Alfelali, Osamah Barasheed, Janette Taylor, Dominic E Dwyer, Jen Kok, Robert Booy, Edward C Holmes, Harunor Rashid
Outbreaks of respiratory virus infection at mass gatherings pose significant health risks to attendants, host communities and ultimately the global population if they help facilitate viral emergence. However, little is known about the genetic diversity, evolution and patterns of viral transmission during mass gatherings, particularly how much diversity is generated by in situ transmission compared to that imported from other locations. Here we describe the genomic-scale evolution of influenza A viruses sampled from the Hajj at Makkah during 2013-2015...
March 22, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28331080/evaluation-of-the-immune-responses-to-and-cross-protective-efficacy-of-eurasian-h7-avian-influenza-viruses
#4
Hyeok-Il Kwon, Young-Il Kim, Su-Jin Park, Min-Suk Song, Eun-Ha Kim, Se Mi Kim, Young-Jae Si, In-Won Lee, Byung-Min Song, Youn-Jeong Lee, Seok Joong Yun, Wun-Jae Kim, Young Ki Choi
Due to increasing concerns of human infection by various H7 viruses, including recent H7N9 viruses, we evaluated the genetic relationships and the cross-protective efficacies of three different Eurasian H7 avian influenza viruses. Phylogenic and molecular analysis revealed that recent Eurasian H7 viruses can be separated into two different lineages with relatively high amino acid identity within groups (94.8 to 98.8%), and low amino acid identity (90.3 to 92.6 %) between the groups. In vivo immunization with representatives of each group revealed that while group-specific cross-reactivity was induced, cross-reactive HI titers were approximately fourfold lower against heterologous group viruses compared to homologous group viruses...
March 22, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28329402/novel-orthopoxvirus-infection-in-an-alaska-resident
#5
Yuri P Springer, Christopher H Hsu, Zachary R Werle, Link E Olson, Michael P Cooper, Louisa J Castrodale, Nisha Fowler, Andrea M McCollum, Cynthia S Goldsmith, Ginny L Emerson, Kimberly Wilkins, Jeffrey B Doty, Jillybeth Burgado, JinXin Gao, Nishi Patel, Matthew R Mauldin, Mary G Reynolds, Panayampalli S Satheshkumar, Whitni Davidson, Yu Li, Joseph B McLaughlin
Background.: Human infection by orthopoxviruses is being reported with increasing frequency, attributed in part to the cessation of smallpox vaccination and concomitant waning of population-level immunity. In July 2015, a female resident of interior Alaska, presented to an urgent care clinic with a dermal lesion consistent with poxvirus infection. Laboratory testing of a virus isolated from the lesion confirmed infection by an Orthopoxvirus. Methods.: The virus isolate was characterized by using electron microscopy and nucleic acid sequencing...
March 15, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28328372/psychiatric-genomics-and-mental-health-treatment-setting-the-ethical-agenda
#6
Camillia Kong, Michael Dunn, Michael Parker
Realizing the benefits of translating psychiatric genomics research into mental health care is not straightforward. The translation process gives rise to ethical challenges that are distinctive from challenges posed within psychiatric genomics research itself, or that form part of the delivery of clinical psychiatric genetics services. This article outlines and considers three distinct ethical concerns posed by the process of translating genomic research into frontline psychiatric practice and policy making...
April 2017: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/28327894/statistical-controversies-in-clinical-research-overlap-and-errors-in-the-meta-analyses-of-microrna-genetic-association-studies-in-cancers
#7
J H Park, M Eisenhut, H J Vliet, J I Shin
Background: : Various errors in the design, conduct, and analysis of medical and public health research studies can produce false results and waste valuable resources. While systematic reviews and meta-analyses are arguably considered the most dependable source of evidence-based medicine, increasing numbers of studies are indicating that, on the contrary to the public's belief, many of these investigations are redundant, erroneous, and even biased. Methods: 94 meta-analyses on microRNA polymorphism and risk of cancer were extracted from Pubmed database on August 2016...
January 24, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28327574/from-older-to-younger-intergenerational-promotion-of-health-behaviours-in-portuguese-families-affected-by-familial-amyloid-polyneuropathy
#8
Carla Roma Oliveira, Alvaro Mendes, Liliana Sousa
The role of older generations in families with hereditary diseases has been recognised and associated to their function as guardians of the family's medical history. However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met. This qualitative exploratory study examines the roles that older generations play towards younger generations, in terms of health promotion and risk management, in families with FAP...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28327572/the-role-of-genetic-counsellors-in-genomic-healthcare-in-the-united-kingdom-a-statement-by-the-association-of-genetic-nurses-and-counsellors
#9
Anna Middleton, Peter Marks, Anita Bruce, Liwsi K Protheroe-Davies, Cath King, Oonagh Claber, Catherine Houghton, Claire Giffney, Rhona Macleod, Claire Dolling, Sue Kenwrick, Diana Scotcher, Georgina Hall, Christine Patch, Laura Boyes
In the United Kingdom, genetic counsellors work together with clinical geneticists and clinical scientist colleagues within specialist genetics services, but they also often work in multidisciplinary teams (MDTs) outside of such services. There, they contribute genetic knowledge together with expert understanding of how to communicate genetic information effectively. They can offer education and support to the MDT, while providing management advice for both affected patients and the extended at-risk family members...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28327175/schizophrenia-and-substance-use-comorbidity-a-genome-wide-perspective
#10
Renato Polimanti, Arpana Agrawal, Joel Gelernter
Dual diagnosis with substance use disorders (SUDs) consistently contributes to the premature mortality and increased disability observed in schizophrenia. Large genome-wide association studies are providing the information needed to investigate the genetic architecture of psychiatric disorders. Here, we discuss recent genetic investigations of dual diagnosis (i.e., schizophrenia plus a SUD) and how these findings can inform public health messages.
March 21, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28325368/chagas-disease-diagnostic-applications-present-knowledge-and-future-steps
#11
V Balouz, F Agüero, C A Buscaglia
Chagas disease, caused by the protozoan Trypanosoma cruzi, is a lifelong and debilitating illness of major significance throughout Latin America and an emergent threat to global public health. Being a neglected disease, the vast majority of Chagasic patients have limited access to proper diagnosis and treatment, and there is only a marginal investment into R&D for drug and vaccine development. In this context, identification of novel biomarkers able to transcend the current limits of diagnostic methods surfaces as a main priority in Chagas disease applied research...
2017: Advances in Parasitology
https://www.readbyqxmd.com/read/28325067/deep-genealogical-analysis-of-a-large-cohort-of-participants-in-the-cartagene-project-quebec-canada
#12
Marc Tremblay, Gabrielle Rouleau
BACKGROUND: Genealogical analysis helps to better understand the genetic structure of populations. The population of Quebec (Canada) often serves as a model for this type of analysis, having one of the world's most complete genealogical databases. AIM: The main objective of this study was to reconstruct, analyse and compare the ascending genealogies of participants to CARTaGENE, a project that aims at building a database on various aspects of public health. SUBJECTS AND METHODS: In total, 5110 genealogies from four Quebec regions were reconstructed...
March 21, 2017: Annals of Human Biology
https://www.readbyqxmd.com/read/28322313/the-epidemic-dynamics-of-hepatitis-c-virus-subtypes-4a-and-4d-in-saudi-arabia
#13
Ahmed A Al-Qahtani, Guy Baele, Nisreen Khalaf, Marc A Suchard, Mashael R Al-Anazi, Ayman A Abdo, Faisal M Sanai, Hamad I Al-Ashgar, Mohammed Q Khan, Mohammed N Al-Ahdal, Philippe Lemey, Bram Vrancken
The relatedness between viral variants sampled at different locations through time can provide information pertinent to public health that cannot readily be obtained through standard surveillance methods. Here, we use virus genetic data to identify the transmission dynamics that drive the hepatitis C virus subtypes 4a (HCV4a) and 4d (HCV4d) epidemics in Saudi Arabia. We use a comprehensive dataset of newly generated and publicly available sequence data to infer the HCV4a and HCV4d evolutionary histories in a Bayesian statistical framework...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28322284/genomic-resources-for-the-study-of-neuropsychiatric-disorders
#14
G Senthil, T Dutka, L Bingaman, T Lehner
The National Institute of Mental Health (NIMH) has made sustained investments in the development of genomic resources over the last two decades. These investments have led to the development of the largest biorepository for psychiatric genetics as a centralized national resource. In the realm of genomic resources, NIMH has been supporting large team science (TS) consortia focused on gene discovery, fine mapping of loci, and functional genomics using state-of-the-art technologies. The scientific output from these efforts has not only begun to transform our understanding of the genetic architecture of neuropsychiatric disorders, but it has also led to a broader cultural change among the investigator community towards deeper collaborations and broad pre-publication sharing of data and resources...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28303819/prevalence-and-genetic-mechanisms-of-antimicrobial-resistance-in-staphylococcus-species-a-multicentre-report-of-the-indian-council-of-medical-research-antimicrobial-resistance-surveillance-network
#15
Sunanda Rajkumar, Sujatha Sistla, Meerabai Manoharan, Madhan Sugumar, Niveditha Nagasundaram, Subhash Chandra Parija, Pallab Ray, Yamuna Devi Bakthavatchalam, Balaji Veeraraghavan, Arti Kapil, Kamini Walia, V C Ohri
PURPOSE: Routine surveillance of antimicrobial resistance (AMR) is an essential component of measures aimed to tackle the growing threat of resistant microbes in public health. This study presents a 1-year multicentre report on AMR in Staphylococcus species as part of Indian Council of Medical Research-AMR surveillance network. MATERIALS AND METHODS: Staphylococcus species was routinely collected in the nodal and regional centres of the network and antimicrobial susceptibility testing was performed against a panel of antimicrobials...
January 2017: Indian Journal of Medical Microbiology
https://www.readbyqxmd.com/read/28303131/multiplexed-single-intact-cell-droplet-digital-pcr-music-ddpcr-method-for-specific-detection-of-enterohemorrhagic-e-coli-ehec-in-food-enrichment-cultures
#16
Tanis C McMahon, Burton W Blais, Alex Wong, Catherine D Carrillo
Foodborne illness attributed to enterohemorrhagic E. coli (EHEC), a highly pathogenic subset of Shiga toxin-producing E. coli (STEC), is increasingly recognized as a significant public health issue. Current microbiological methods for identification of EHEC in foods often use PCR-based approaches to screen enrichment broth cultures for characteristic gene markers [i.e., Shiga toxin (stx) and intimin (eae)]. However, false positives arise when complex food matrices, such as beef, contain mixtures of eae-negative STEC and eae-positive E...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28302025/the-use-of-plant-sterols-and-stanols-as-lipid-lowering-agents-in-cardiovascular-disease
#17
Jacek Rysz, Beata Franczyk, Robert Olszewski, Maciej Banach, Anna Gluba-Brzózka
BACKGROUND: The prevalence of premature atherosclerosis and cardiovascular disease (CVD) is constantly increasing worldwide. It has been proved that LDL-cholesterol (LDL-C) plays causal role in the development of coronary atherosclerosis. The fact that atherosclerosis is a chronic and progressive disease which onsets during the first three decades of life bores questions what to do to maintain LDL-C at low levels throughout life and thus to delay and/or prevent the progress this disease...
March 16, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28301548/hiv-1-genetic-diversity-and-antiretroviral-drug-resistance-among-individuals-from-roraima-state-northern-brazil
#18
André de Lima Guerra Corado, Gonzalo Bello, Renato Augusto Carvalho Leão, Fabiana Granja, Felipe Gomes Naveca
The HIV-1 epidemic in Brazil has spread towards the Northern country region, but little is known about HIV-1 subtypes and prevalence of HIV strains with resistance mutations to antiretrovirals in some of the Northern states. HIV-1 protease (PR) and reverse transcriptase (RT) sequences were obtained from 73 treatment-naive and -experienced subjects followed between 2013 and 2014 at a public health reference unit from Roraima, the northernmost Brazilian state. The most prevalent HIV-1 clade observed in the study population was the subtype B (91%), followed by subtype C (9%)...
2017: PloS One
https://www.readbyqxmd.com/read/28301457/exploring-the-feasibility-of-delivering-standardized-genomic-care-using-ophthalmology-as-an-example
#19
Niall Davison, Katherine Payne, Martin Eden, Marion McAllister, Stephen A Roberts, Stuart Ingram, Graeme C M Black, Georgina Hall
PURPOSE: Broadening access to genomic testing and counseling will be necessary to realize the benefits of personalized health care. This study aimed to assess the feasibility of delivering a standardized genomic care model for inherited retinal dystrophy (IRD) and of using selected measures to quantify its impact on patients. METHODS: A pre-/post- prospective cohort study recruited 98 patients affected by IRD to receive standardized multidisciplinary care. A checklist was used to assess the fidelity of the care process...
March 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28299592/the-effect-of-a-celebrity-health-disclosure-on-demand-for-health-care-trends-in-brca-testing-and-subsequent-health-services-use
#20
Megan C Roberts, Stacie B Dusetzina
In May 2013, an internationally renowned celebrity-Angelina Jolie-disclosed her receipt of BRCA1/BRCA2 (BRCA) testing and subsequent double mastectomy in a highly publicized editorial. Publicity surrounding celebrity health services use increases awareness of important health issues and demand for health services. We aimed to describe BRCA testing trends before and after Jolie's disclosure, breast cancer-related services use following testing, and test reimbursement trends. MarketScan Commercial Claims data were used to compare trends in BRCA testing before and after Jolie's health disclosure using an interrupted time series model among women aged 18-64...
March 15, 2017: Journal of Community Genetics
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