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https://www.readbyqxmd.com/read/29779130/the-present-and-the-future-of-genetic-testing-in-familial-hypercholesterolemia-opportunities-and-caveats
#1
REVIEW
Amanda J Hooper, John R Burnett, Damon A Bell, Gerald F Watts
PURPOSE OF REVIEW: We summarize recent advances in the understanding of genetic testing in familial hypercholesterolemia (FH), the use of expanded FH next-generation sequencing panels, and directions for future research. RECENT FINDINGS: The uptake of massively parallel sequencing in research and diagnostic laboratories has enabled expanded testing for FH and its phenocopies, with the added advantage that copy number variants can be detected. However, increasing the number of genes tested increases the number of variants detected, which may or may not be pathogenic...
May 19, 2018: Current Atherosclerosis Reports
https://www.readbyqxmd.com/read/29779033/genome-wide-association-study-of-renal-function-traits-results-from-the-japan-multi-institutional-collaborative-cohort-study
#2
Asahi Hishida, Masahiro Nakatochi, Masato Akiyama, Yoichiro Kamatani, Takeshi Nishiyama, Hidemi Ito, Isao Oze, Yuichiro Nishida, Megumi Hara, Naoyuki Takashima, Tanvir Chowdhury Turin, Miki Watanabe, Sadao Suzuki, Rie Ibusuki, Ippei Shimoshikiryo, Yohko Nakamura, Haruo Mikami, Hiroaki Ikezaki, Norihiro Furusyo, Kiyonori Kuriki, Kaori Endoh, Teruhide Koyama, Daisuke Matsui, Hirokazu Uemura, Kokichi Arisawa, Tae Sasakabe, Rieko Okada, Sayo Kawai, Mariko Naito, Yukihide Momozawa, Michiaki Kubo, Kenji Wakai
BACKGROUND: Chronic kidney disease (CKD) is a rapidly growing, worldwide public health problem. Recent advances in genome-wide-association studies (GWAS) revealed several genetic loci associated with renal function traits worldwide. METHODS: We investigated the association of genetic factors with the levels of serum creatinine (SCr) and the estimated glomerular filtration rate (eGFR) in Japanese population-based cohorts analyzing the GWAS imputed data with 11,221 subjects and 12,617,569 variants, and replicated the findings with the 148,829 hospital-based Japanese subjects...
May 18, 2018: American Journal of Nephrology
https://www.readbyqxmd.com/read/29778183/high-genetic-diversity-of-extended-spectrum-%C3%AE-lactamases-producing-escherichia-coli-in-feces-of-horses
#3
Syndia Sadikalay, Yann Reynaud, Stéphanie Guyomard-Rabenirina, Mélanie Falord, Célia Ducat, Laetitia Fabre, Simon Le Hello, Antoine Talarmin, Séverine Ferdinand
Extended-spectrum beta-lactamases (ESBLs), especially those of the CTX-M type, represent a major public health problem throughout the world. Although the carriage of ESBL-producing Enterobacteriaceae (EPE) in feces of horses is now well recognized, little is known about the diversity of EPE after treatment of horses with antibiotics. We undertook this study to assess and follow the diversity of EP Escherichia coli isolated from horses after antibiotic treatment for an infection. Fecal samples from two horses treated and two that were untreated were tested for the presence of EPE on different days...
June 2018: Veterinary Microbiology
https://www.readbyqxmd.com/read/29777097/gwas-on-family-history-of-alzheimer-s-disease
#4
Riccardo E Marioni, Sarah E Harris, Qian Zhang, Allan F McRae, Saskia P Hagenaars, W David Hill, Gail Davies, Craig W Ritchie, Catharine R Gale, John M Starr, Alison M Goate, David J Porteous, Jian Yang, Kathryn L Evans, Ian J Deary, Naomi R Wray, Peter M Visscher
Alzheimer's disease (AD) is a public health priority for the 21st century. Risk reduction currently revolves around lifestyle changes with much research trying to elucidate the biological underpinnings. We show that self-report of parental history of Alzheimer's dementia for case ascertainment in a genome-wide association study of 314,278 participants from UK Biobank (27,696 maternal cases, 14,338 paternal cases) is a valid proxy for an AD genetic study. After meta-analysing with published consortium data (n = 74,046 with 25,580 cases across the discovery and replication analyses), three new AD-associated loci (P < 5 × 10-8 ) are identified...
May 18, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29776743/tracing-environmental-exposure-from-neurodevelopment-to-neurodegeneration
#5
Amy L Heffernan, Dominic J Hare
Interplay between genetic and environmental factors during critical time windows can have effects that span from neurodevelopment to neurodegeneration. We present the concept of the 'neuroexposome', emphasizing the brain's distinctive response to environmental exposure, and how current 'omics' sciences can inform on both disease pathogenesis and future public health policies.
May 7, 2018: Trends in Neurosciences
https://www.readbyqxmd.com/read/29773774/us-and-cuban-scientists-forge-collaboration-on-arbovirus-research
#6
Jorge Pérez-Ávila, Maria G Guzmán-Tirado, Jorge Fraga-Nodarse, Gray Handley, James Meegan, Jose L Pelegrino-Martínez de la Cotera, Anthony S Fauci
After December 17, 2014, when the US and Cuban governments announced their intent to restore relations, the two countries participated in various exchange activities in an effort to encourage cooperation in public health, health research and biomedical sciences. The conference entitled Exploring Opportunities for Arbovirus Research Collaboration, hosted at Havana's Hotel Nacional, was part of these efforts and was the first major US-Cuban scientific conference in over 50 years. Its purpose was to share information about current arbovirus research and recent findings, and to explore opportunities for future joint research...
April 2018: MEDICC Review
https://www.readbyqxmd.com/read/29770092/canada-s-pandemic-influenza-preparedness-laboratory-strategy
#7
B Henry
The Canadian Pandemic Influenza Preparedness: Planning Guidance for the Health Sector (CPIP) is a guidance document that outlines key health sector preparedness activities designed to ensure Canada is ready to respond to the next influenza pandemic. This article outlines Canada's pandemic influenza laboratory strategy as described in the CPIP Laboratory Annex . Laboratory identification and characterization of an influenza pandemic virus is critical to detect the pandemic, develop a vaccine, detect antiviral resistance and inform surveillance functions such as monitoring the geographic spread of the disease...
January 4, 2018: Canada Communicable Disease Report, Relevé des Maladies Transmissibles Au Canada
https://www.readbyqxmd.com/read/29770047/emerging-infectious-diseases-prediction-and-detection
#8
N H Ogden, P AbdelMalik, Jrc Pulliam
Emerging infectious diseases (EIDs), including West Nile virus, severe acute respiratory syndrome (SARS) and Lyme disease, have had a direct effect within Canada, while many more EIDs such as Zika, chikungunya and Ebola are a threat to Canadians while travelling. Over 75% of EIDs affecting humans are, or were originally, zoonoses (infectious diseases transmitted from animals to humans). There are two main ways by which infectious diseases can emerge: by changes in their geographical ranges and by adaptive emergence, a genetic change in a microorganism that results in it becoming capable of invading a new niche, often by jumping to a new host species such as humans...
October 5, 2017: Canada Communicable Disease Report, Relevé des Maladies Transmissibles Au Canada
https://www.readbyqxmd.com/read/29769355/role-of-obesity-in-smoking-behaviour-mendelian-randomisation-study-in-uk-biobank
#9
Robert Carreras-Torres, Mattias Johansson, Philip C Haycock, Caroline L Relton, George Davey Smith, Paul Brennan, Richard M Martin
OBJECTIVE: To determine whether body mass index, body fat percentage, and waist circumference influence smoking status and intensity. DESIGN: Mendelian randomisation study. SETTING: UK Biobank, with replication of results from the Tobacco and Genetics (TAG) consortium. PARTICIPANTS: European descent participants from the UK Biobank cohort (n=372 791) and the TAG consortium (n=74 035). MAIN OUTCOME MEASURES: Risk of current and past smoking, number of cigarettes smoked per day, age of smoking initiation...
May 16, 2018: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/29769113/thinking-beyond-opisthorchis-viverrini-for-risk-of-cholangiocarcinoma-in-the-lower-mekong-region-a-systematic-review-and-meta-analysis
#10
REVIEW
Jennifer A Steele, Carsten H Richter, Pierre Echaubard, Parichat Saenna, Virginia Stout, Paiboon Sithithaworn, Bruce A Wilcox
BACKGROUND: Cholangiocarcinoma (CCA) is a fatal bile duct cancer associated with infection by the liver fluke, Opisthorchis viverrini, in the lower Mekong region. Numerous public health interventions have focused on reducing exposure to O. viverrini, but incidence of CCA in the region remains high. While this may indicate the inefficacy of public health interventions due to complex social and cultural factors, it may further indicate other risk factors or interactions with the parasite are important in pathogenesis of CCA...
May 17, 2018: Infectious Diseases of Poverty
https://www.readbyqxmd.com/read/29765237/comparative-genomic-analysis-of-multidrug-resistant-streptococcus-pneumoniae-isolates
#11
Fen Pan, Hong Zhang, Xiaoyan Dong, Weixing Ye, Ping He, Shulin Zhang, Jeff Xianchao Zhu, Nanbert Zhong
Introduction: Multidrug resistance in Streptococcus pneumoniae has emerged as a serious problem to public health. A further understanding of the genetic diversity in antibiotic-resistant S. pneumoniae isolates is needed. Methods: We conducted whole-genome resequencing for 25 pneumococcal strains isolated from children with different antimicrobial resistance profiles. Comparative analysis focus on detection of single-nucleotide polymorphisms (SNPs) and insertions and deletions (indels) was conducted...
2018: Infection and Drug Resistance
https://www.readbyqxmd.com/read/29764951/predictable-phenotypes-of-antibiotic-resistance-mutations
#12
M Knopp, D I Andersson
Antibiotic-resistant bacteria represent a major threat to our ability to treat bacterial infections. Two factors that determine the evolutionary success of antibiotic resistance mutations are their impact on resistance level and the fitness cost. Recent studies suggest that resistance mutations commonly show epistatic interactions, which would complicate predictions of their stability in bacterial populations. We analyzed 13 different chromosomal resistance mutations and 10 host strains of Salmonella enterica and Escherichia coli to address two main questions...
May 15, 2018: MBio
https://www.readbyqxmd.com/read/29760138/co-location-of-the-polymyxin-resistance-gene-mcr-1-and-variant-of-mcr-3-on-a-plasmid-in-escherichia-coli-from-chicken-farm
#13
Rong Xiang, Bi-Hui Liu, An-Yun Zhang, Chang-Wei Lei, Xiao-Lan Ye, Yan-Xian Yang, Yan-Peng Chen, Hong-Ning Wang
A colistin-resistant Escherichia coli from commercial poultry farm in China carried two colistin-resistance genes mcr-1 and variant of mcr-3 in an IncP plasmid. The variant of mcr-3 gene, named mcr-3.11 , encoded two amino acid substitutions compared with the mcr-3 A novel genetic structure, IS Kpn40-mcr-3-dgkA - IS Kpn40 , might be the key element mediating translocation of mcr-3 through the formation of circular form. The mcr-1 and mcr-3 genes co-located on a plasmid might pose huge threat to public health...
May 14, 2018: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/29758048/adult-height-and-all-cause-and-cause-specific-mortality-in-the-japan-public-health-center-based-prospective-study-jphc
#14
Hikaru Ihira, Norie Sawada, Motoki Iwasaki, Taiki Yamaji, Atsushi Goto, Mitsuhiko Noda, Hiroyasu Iso, Shoichiro Tsugane
Adult height is determined by both genetic characteristics and environmental factors in early life. Although previous studies have suggested that adult height is associated with risk of mortality, comprehensive associations between height and all-cause and cause-specific mortality in the Japanese population are unclear. We aimed to evaluate the associations between adult height and all-cause and cause-specific mortality among Japanese men and women in a prospective cohort study. We investigated 107,794 participants (50,755 men and 57,039 women) aged 40 to 69 years who responded to the baseline questionnaire in the Japan Public Health Center-based Prospective Study...
2018: PloS One
https://www.readbyqxmd.com/read/29757366/a-systematic-review-and-meta-analysis-reveals-pervasive-effects-of-germline-mitochondrial-replacement-on-components-of-health
#15
Ralph Dobler, Damian K Dowling, Edward H Morrow, Klaus Reinhardt
BACKGROUND: Mitochondrial replacement, a form of nuclear transfer, has been proposed as a germline therapy to prevent the transmission of mitochondrial diseases. Mitochondrial replacement therapy has been licensed for clinical application in the UK, and already carried out in other countries, but little is known about negative or unintended effects on the health of offspring born using this technique. OBJECTIVE AND RATIONALE: Studies in invertebrate models have used techniques that achieve mitochondrial replacement to create offspring with novel combinations of mitochondrial and nuclear genotype...
May 11, 2018: Human Reproduction Update
https://www.readbyqxmd.com/read/29755620/human-genomic-loci-important-in-common-infectious-diseases-role-of-high-throughput-sequencing-and-genome-wide-association-studies
#16
REVIEW
Gerald Mboowa, Ivan Sserwadda, Marion Amujal, Norah Namatovu
HIV/AIDS, tuberculosis (TB), and malaria are 3 major global public health threats that undermine development in many resource-poor settings. Recently, the notion that positive selection during epidemics or longer periods of exposure to common infectious diseases may have had a major effect in modifying the constitution of the human genome is being interrogated at a large scale in many populations around the world. This positive selection from infectious diseases increases power to detect associations in genome-wide association studies (GWASs)...
2018: Canadian Journal of Infectious Diseases & Medical Microbiology
https://www.readbyqxmd.com/read/29753700/spectrum-and-prevalence-of-genetic-predisposition-in-medulloblastoma-a-retrospective-genetic-study-and-prospective-validation-in-a-clinical-trial-cohort
#17
Sebastian M Waszak, Paul A Northcott, Ivo Buchhalter, Giles W Robinson, Christian Sutter, Susanne Groebner, Kerstin B Grund, Laurence Brugières, David T W Jones, Kristian W Pajtler, A Sorana Morrissy, Marcel Kool, Dominik Sturm, Lukas Chavez, Aurelie Ernst, Sebastian Brabetz, Michael Hain, Thomas Zichner, Maia Segura-Wang, Joachim Weischenfeldt, Tobias Rausch, Balca R Mardin, Xin Zhou, Cristina Baciu, Christian Lawerenz, Jennifer A Chan, Pascale Varlet, Lea Guerrini-Rousseau, Daniel W Fults, Wiesława Grajkowska, Peter Hauser, Nada Jabado, Young-Shin Ra, Karel Zitterbart, Suyash S Shringarpure, Francisco M De La Vega, Carlos D Bustamante, Ho-Keung Ng, Arie Perry, Tobey J MacDonald, Pablo Hernáiz Driever, Anne E Bendel, Daniel C Bowers, Geoffrey McCowage, Murali M Chintagumpala, Richard Cohn, Timothy Hassall, Gudrun Fleischhack, Tone Eggen, Finn Wesenberg, Maria Feychting, Birgitta Lannering, Joachim Schüz, Christoffer Johansen, Tina V Andersen, Martin Röösli, Claudia E Kuehni, Michael Grotzer, Kristina Kjaerheim, Camelia M Monoranu, Tenley C Archer, Elizabeth Duke, Scott L Pomeroy, Redmond Shelagh, Stephan Frank, David Sumerauer, Wolfram Scheurlen, Marina V Ryzhova, Till Milde, Christian P Kratz, David Samuel, Jinghui Zhang, David A Solomon, Marco Marra, Roland Eils, Claus R Bartram, Katja von Hoff, Stefan Rutkowski, Vijay Ramaswamy, Richard J Gilbertson, Andrey Korshunov, Michael D Taylor, Peter Lichter, David Malkin, Amar Gajjar, Jan O Korbel, Stefan M Pfister
BACKGROUND: Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines. METHODS: In this international, multicentre study, we analysed patients with medulloblastoma from retrospective cohorts (International Cancer Genome Consortium [ICGC] PedBrain, Medulloblastoma Advanced Genomics International Consortium [MAGIC], and the CEFALO series) and from prospective cohorts from four clinical studies (SJMB03, SJMB12, SJYC07, and I-HIT-MED)...
May 9, 2018: Lancet Oncology
https://www.readbyqxmd.com/read/29753465/short-communication-uncovering-quantitative-trait-loci-associated-with-resistance-to-mycobacterium-avium-ssp-paratuberculosis-infection-in-holstein-cattle-using-a-high-density-single-nucleotide-polymorphism-panel
#18
Sanjay Mallikarjunappa, M Sargolzaei, L F Brito, K G Meade, N A Karrow, S D Pant
Mycobacterium avium ssp. paratuberculosis (MAP) is the etiological agent of Johne's disease in cattle. Johne's disease is a disease of significant economic, animal welfare, and public health concern around the globe. Therefore, understanding the genetic architecture of resistance to MAP infection has great relevance to advance genetic selection methods to breed more resistant animals. The objectives of this study were to perform a genome-wide association study of previously analyzed 50K genotypes now imputed to a high-density single nucleotide polymorphism panel (777K), aiming to validate previously reported associations and potentially identify additional single nucleotide polymorphisms associated with antibody response to MAP infection...
May 9, 2018: Journal of Dairy Science
https://www.readbyqxmd.com/read/29744472/does-quality-of-drinking-water-matter-in-kidney-stone-disease-a-study-in-west-bengal-india
#19
Pubali Mitra, Dilip Kumar Pal, Madhusudan Das
Purpose: The combined interaction of epidemiology, environmental exposure, dietary habits, and genetic factors causes kidney stone disease (KSD), a common public health problem worldwide. Because a high water intake (>3 L daily) is widely recommended by physicians to prevent KSD, the present study evaluated whether the quantity of water that people consume daily is associated with KSD and whether the quality of drinking water has any effect on disease prevalence. Materials and Methods: Information regarding residential address, daily volume of water consumption, and source of drinking water was collected from 1,266 patients with kidney stones in West Bengal, India...
May 2018: Investigative and Clinical Urology
https://www.readbyqxmd.com/read/29742871/the-effect-of-abo-blood-groups-hemoglobinopathy-and-heme-oxygenase-1-polymorphisms-on-malaria-susceptibility-and-severity
#20
Jiraporn Kuesap, Kesara Na-Bangchang
Malaria is one of the most important public health problems in tropical areas on the globe. Several factors are associated with susceptibility to malaria and disease severity, including innate immunity such as blood group, hemoglobinopathy, and heme oxygenase-1 (HO-1) polymorphisms. This study was carried out to investigate association among ABO blood group, thalassemia types and HO-1 polymorphisms in malaria. The malarial blood samples were collected from patients along the Thai-Myanmar border. Determination of ABO blood group, thalassemia variants, and HO-1 polymorphisms were performed using agglutination test, low pressure liquid chromatography and polymerase chain reaction, respectively...
April 2018: Korean Journal of Parasitology
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