34,708 results match your criteria identifying genetic

Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nat Genet 2021 Jun 14. Epub 2021 Jun 14.

Department of Pathology, Immunology, and Laboratory Medicine, University of Florida, Gainesville, FL, USA.

We report the largest and most diverse genetic study of type 1 diabetes (T1D) to date (61,427 participants), yielding 78 genome-wide-significant (P < 5 × 10) regions, including 36 that are new. We define credible sets of T1D-associated variants and show that they are enriched in immune-cell accessible chromatin, particularly CD4 effector T cells. Using chromatin-accessibility profiling of CD4 T cells from 115 individuals, we map chromatin-accessibility quantitative trait loci and identify five regions where T1D risk variants co-localize with chromatin-accessibility quantitative trait loci. Read More

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Expanding the environmental scope: an environment-wide association study for mental well-being.

J Expo Sci Environ Epidemiol 2021 Jun 14. Epub 2021 Jun 14.

Department of Biological Psychology, Faculty of Behavioural and Movement Sciences, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

Background: Identifying modifiable factors associated with well-being is of increased interest for public policy guidance. Developments in record linkage make it possible to identify what contributes to well-being from a myriad of factors. To this end, we link two large-scale data resources; the Geoscience and Health Cohort Consortium, a collection of geo-data, and the Netherlands Twin Register, which holds population-based well-being data. Read More

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Immu-Mela: An open resource for exploring immunotherapy-related multidimensional genomic profiles in melanoma.

J Genet Genomics 2021 May 14. Epub 2021 May 14.

Center for Quantitative Sciences, Vanderbilt University Medical Center, Nashville TN 37203, USA; Department of Biostatistics, Vanderbilt University Medical Center, Nashville TN 37203, USA. Electronic address:

There are increasing studies aimed to reveal genomic hallmarks predictive of immune checkpoint blockade (ICB) treatment response, which generated a large number of data and provided an unprecedented opportunity to identify response-related features and evaluate their robustness across cohorts. However, those valuable data sets are not easily accessible to the research community. To take full advantage of existing large-scale immuno-genomic profiles, we developed Immu-Mela (http://bioinfo. Read More

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Identification of genomic regions affecting production traits in pigs divergently selected for feed efficiency.

Genet Sel Evol 2021 Jun 14;53(1):49. Epub 2021 Jun 14.

GenPhySE, Université de Toulouse, INRAE, ENVT, 31320, Castanet-Tolosan, France.

Background: Feed efficiency is a major driver of the sustainability of pig production systems. Understanding the biological mechanisms that underlie these agronomic traits is an important issue for environment questions and farms' economy. This study aimed at identifying genomic regions that affect residual feed intake (RFI) and other production traits in two pig lines divergently selected for RFI during nine generations (LRFI, low RFI; HRFI, high RFI). Read More

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Deciphering Human Leukocyte Antigen Susceptibility Maps From Immunopeptidomics Characterization in Oncology and Infections.

Front Cell Infect Microbiol 2021 28;11:642583. Epub 2021 May 28.

Department of Medicine and Cytometry General Service-Nucleus, CIBERONC, Cancer Research Centre (IBMCC/CSIC/USAL/IBSAL), Salamanca, Spain.

Genetic variability across the three major histocompatibility complex (MHC) class I genes (human leukocyte antigen [HLA] A, B, and C) may affect susceptibility to many diseases such as cancer, auto-immune or infectious diseases. Individual genetic variation may help to explain different immune responses to microorganisms across a population. HLA typing can be fast and inexpensive; however, deciphering peptides loaded on MHC-I and II which are presented to T cells, require the design and development of high-sensitivity methodological approaches and subsequently databases. Read More

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Knowledge and Attitudes of Future Healthcare Professionals Toward Rare Diseases.

Front Genet 2021 28;12:639610. Epub 2021 May 28.

Department of Organization and Management in Health Care, Poznan University of Medical Sciences, Poznań, Poland.

Caring for patients suffering from a rare disease (RD) requires the special and combined efforts of different healthcare professionals, including nurses, physiotherapists and physicians. Nevertheless, Poland still lacks a national plan for RDs and the undergraduate and postgraduate education of future healthcare professionals on RDs is also inadequate. Thus, the aim of this study was to assess the awareness of RDs among nursing, physiotherapy and medical students in Poland. Read More

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A Computational Framework for Pattern Detection on Unaligned Sequences: An Application on SARS-CoV-2 Data.

Front Genet 2021 28;12:618170. Epub 2021 May 28.

Institute of Applied Biosciences, Centre for Research and Technology Hellas, Thessaloniki, Greece.

The exponential growth of genome sequences available has spurred research on pattern detection with the aim of extracting evolutionary signal. Traditional approaches, such as multiple sequence alignment, rely on positional homology in order to reconstruct the phylogenetic history of taxa. Yet, mining information from the plethora of biological data and delineating species on a genetic basis, still proves to be an extremely difficult problem to consider. Read More

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Identifying Anti-Oxidant Biosynthesis Genes in Pearl Millet [ (L.) R. Br.] Using Genome-Wide Association Analysis.

Front Plant Sci 2021 28;12:599649. Epub 2021 May 28.

Institute of Biological Environmental and Rural Sciences (IBERS), Aberystwyth University, Aberystwyth, United Kingdom.

Pearl millet [ (L.) R Br.] is an important staple food crop in the semi-arid tropics of Asia and Africa. Read More

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A functional genetic screen identifies Aurora kinase b as a critical regulator of Sox9-positive embryonic lung progenitor cells.

Development 2021 Jun 14. Epub 2021 Jun 14.

Personalised Oncology Divison, The University of Melbourne, Parkville, Australia.

Development of a branching tree in the embryonic lung is critical for the formation of a fully mature functional lung at birth. Sox9+ cells present at the tip of the primary embryonic lung endoderm are multipotent cells responsible for branch formation and elongation. We performed a genetic screen and identified Aurora kinase b (Aurkb) as a critical regulator of Sox9+ cells ex vivo. Read More

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Impact of the CYP2D6 single nucleotide polymorphism on the concentration of and therapeutic response to donepezil in mild-to-moderate Alzheimer's disease.

J Formos Med Assoc 2021 Jun 10. Epub 2021 Jun 10.

Department of Neurology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of and Master's Program in Neurology, Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Neuroscience Research Center, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Neurology, Kaohsiung Municipal Ta-Tung Hospital, Kaohsiung, Taiwan. Electronic address:

Background/purpose: Donepezil was approved for the treatment of Alzheimer's disease (AD) but causes variable therapeutic responses. Thus, identifying specific genetic polymorphisms, which can predict a therapeutic response to donepezil, would enable a development of personalized strategy to treatment for patients with AD. The research aimed to exam the impact of the cytochrome P450 2D6 (CYP2D6) single nucleotide polymorphism (SNP) rs1080985 on the concentration of and therapeutic response to donepezil in AD. Read More

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Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study.

Brain Dev 2021 Jun 10. Epub 2021 Jun 10.

Department of Paediatrics, Peking University People's Hospital, Beijing 100044, China.

Objective: To evaluate the clinical utility of next-generation sequencing (NGS) in unexplained pediatric epilepsy, and to identify the potential predictors associated with Mendelian genetic causes.

Methods: Two hundred and ten children with unexplained epilepsy, who underwent NGS test were included. We analyzed the demographic, clinical and genetic characteristics, and executed a Logistic regression analysis for identifying predictors for Mendelian genetic causes. Read More

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[Beckwith-Wiedemann over-growth syndrom].

Ugeskr Laeger 2021 Jun;183(24)

We report a boy with congenital hemihyperplasia, umbilical hernia and temporary neonatal hypoglycemia, who was confirmed to have BWS caused by paternal uniparental disomy of chromosome 11p15.5. Additional phenotypic features comprising scoliosis, nephromegaly, focal partial epilepsy and delayed psychomotor development were coherent with the underlying genotype. Read More

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Commentary: Hierarchical reductionism approach to understanding adaptive variation in animal performance.

Comp Biochem Physiol B Biochem Mol Biol 2021 Jun 10;256:110636. Epub 2021 Jun 10.

Department of Biology, McMaster University, Hamilton, ON L8S 4K1, Canada.

Aerobic capacity is a complex performance trait with important consequences for fitness, and is determined by the integrated function of the O transport pathway. The components of the O pathway interact and function as an integrated physiological system, which could strongly influence the contribution of each component to variation in aerobic capacity. In this commentary, we highlight the value of hierarchical reductionism - combining studies of how component parts work in isolation with studies of how components interact within integrated systems - for understanding the evolution of aerobic capacity. Read More

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Targeting glucose metabolism sensitizes pancreatic cancer to MEK inhibition.

Cancer Res 2021 Jun 11. Epub 2021 Jun 11.

Molecular and Cellular Oncology, The University of Texas MD Anderson Cancer Center

Pancreatic ductal adenocarcinoma (PDAC) is almost universally lethal. A critical unmet need exists to explore essential susceptibilities in PDAC and identify druggable targets to improve PDAC treatment. KRAS mutations dominate the genetic landscape of PDAC and lead to activation of multiple downstream pathways and cellular processes. Read More

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Genetic and pathogenic characterization of a novel recombinant avian infectious bronchitis virus derived from GI-1, GI-13, GI-28, and GI-19 strains in Southwestern China.

Poult Sci 2021 Apr 29;100(7):101210. Epub 2021 Apr 29.

Animal Disease Prevention and Food Safety Key Laboratory of Sichuan Province; Key Laboratory of Bio-Resources and Eco-Environment, Ministry of Education, College of Life Science Sichuan University, Chengdu 610064, China. Electronic address:

Avian infectious bronchitis (IB), caused by avian infectious bronchitis virus (IBV), is an acute and highly contagious disease that is extremely harmful to the poultry industry throughout the world. The cross-using of different attenuated live vaccine strains has led to the occurrence of diverse IBV serotypes. In this study, we isolated an IBV strain from a chicken farm in southwest China and designated it CK/CH/SCMY/160315. Read More

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Species-wide transposable element repertoires retrace the evolutionary history of the Saccharomyces cerevisiae host.

Mol Biol Evol 2021 Jun 11. Epub 2021 Jun 11.

Université de Strasbourg, CNRS, GMGM UMR 7156, Strasbourg, France.

Transposable elements (TE) are an important source of genetic variation with a dynamic and content that greatly differ in a wide range of species. The origin of the intraspecific content variation is not always clear and little is known about the precise nature of it. Here, we surveyed the species-wide content of the Ty LTR-retrotransposons in a broad collection of 1,011 Saccharomyces cerevisiae natural isolates to understand what can stand behind the variation of the repertoire, i. Read More

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Genome assembly of the cold-tolerant leaf beetle Gonioctena quinquepunctata, an important resource for studying its evolution and reproductive barriers between species.

Genome Biol Evol 2021 Jun 11. Epub 2021 Jun 11.

Evolutionary Biology and Ecology & Interuniversity Institute of Bioinformatics in Brussels - (IB), UniversitÉ libre de Bruxelles (ULB), av. F.D. Roosevelt, 50, 1050 Brussels, Belgium.

Coleoptera is the most species-rich insect order, yet is currently underrepresented in genomic databases. An assembly was generated for ca. 1. Read More

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Using a Tailored Digital Health Intervention for Family Communication and Cascade Genetic Testing in Swiss and Korean Families With Hereditary Breast and Ovarian Cancer: Protocol for the DIALOGUE Study.

JMIR Res Protoc 2021 Jun 11;10(6):e26264. Epub 2021 Jun 11.

Department of Clinical Research, University of Basel, Basel, Switzerland.

Background: In hereditary breast and ovarian cancer (HBOC), family communication of genetic test results is essential for cascade genetic screening, that is, identifying and testing blood relatives of known mutation carriers to determine whether they also carry the pathogenic variant, and to propose preventive and clinical management options. However, up to 50% of blood relatives are unaware of relevant genetic information, suggesting that potential benefits of genetic testing are not communicated effectively within family networks. Technology can facilitate communication and genetic education within HBOC families. Read More

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[Nutrition and mental health - how findings from genetic studies can support the identification of dietary effects].

Z Kinder Jugendpsychiatr Psychother 2021 Jun 11:1-10. Epub 2021 Jun 11.

Klinik für Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters, LVR-Klinikum Essen, Kliniken und Institut der Universität Duisburg-Essen.

Nutrition and mental health - how findings from genetic studies can support the identification of dietary effects Numerous studies indicate that dietary interventions could be an important approach to the prevention and treatment of mental disorders. However, conventional nutritional epidemiological approaches (e. g. Read More

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A novel mouse model to evaluate neuropeptide Y-mediated melanocyte pathology.

Exp Dermatol 2021 Jun 11. Epub 2021 Jun 11.

Department of Biology, University of Alabama at Birmingham, Birmingham, AL, USA.

Vitiligo is an autoimmune disease characterized by depigmented patches of skin due to loss of the pigment-producing melanocytes. No cure exists for vitiligo. The available treatments are inefficient for many patients, suggesting that universal treatment approaches may be inappropriate. Read More

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A chromosome-level Camptotheca acuminata genome assembly provides insights into the evolutionary origin of camptothecin biosynthesis.

Nat Commun 2021 06 10;12(1):3531. Epub 2021 Jun 10.

Key Laboratory of Bio-resource and Eco-Environment of Ministry of Education, College of Life Sciences, Sichuan University, Chengdu, China.

Camptothecin and its derivatives are widely used for treating malignant tumors. Previous studies revealed only a limited number of candidate genes for camptothecin biosynthesis in Camptotheca acuminata, and it is still poorly understood how its biosynthesis of camptothecin has evolved. Here, we report a high-quality, chromosome-level C. Read More

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Polygenic prediction of atopic dermatitis improves with atopic training and filaggrin factors.

J Allergy Clin Immunol 2021 Jun 7. Epub 2021 Jun 7.

University of Colorado Anschutz Medical Campus, Aurora, CO. Electronic address:

Background: While numerous genetic loci associated atopic dermatitis (AD) have been discovered, to date, work leveraging the combined burden of AD risk variants across the genome to predict disease risk has been limited.

Objective: This study aims to determine if polygenic risk scores (PRSs) relying on genetic determinants for AD provide useful predictions for disease occurrence and severity. We also explicitly test the value of including genome wide association studies (GWASs) of related allergic phenotypes and known filaggrin (FLG) loss-of-function (LOF) variants. Read More

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Genetic Determinants of Peripheral Artery Disease.

Circ Res 2021 Jun 10;128(12):1805-1817. Epub 2021 Jun 10.

Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA (S.M.D.).

Peripheral artery disease-atherosclerosis of the abdominal aorta and lower extremity vascular bed-is a complex disease with both environmental and genetic determinants. Unmitigated disease is associated with major functional decline and can lead to chronic limb-threatening ischemia, amputation, and increased mortality. Over the last 10 years, major advances have been made in identifying the genetic basis of this common, complex disease. Read More

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Containing pandemics through targeted testing of households.

BMC Infect Dis 2021 Jun 9;21(1):548. Epub 2021 Jun 9.

Department of Biotechnology and Food Science, NTNU - Norwegian University of Science and Technology, Trondheim, Norway.

Background: While invasive social distancing measures have proven efficient to control the spread of pandemics failing wide-scale deployment of vaccines, they carry vast societal costs. The development of a diagnostic methodology for identifying COVID-19 infection through simple testing was a reality only a few weeks after the novel virus was officially announced. Thus, we were interested in exploring the ability of regular testing of non-symptomatic people to reduce cases and thereby offer a non-pharmaceutical tool for controlling the spread of a pandemic. Read More

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Direct to consumer genetic and genomic testing with associated implications for advanced nursing practice.

J Am Assoc Nurse Pract 2021 Jun 7. Epub 2021 Jun 7.

Wellmed, Corpus Christi, Texas, Thomas Spann Clinic, Corpus Christi, Texas, National Association of Pediatric Nurse Practitioners, New York, New York, Baylor University, Waco, Texas, Department of Veterans Affairs, Home Based Primary Care, Temple, Texas, College of Nursing and Health Sciences, Texas A&M University-Corpus Christi, Corpus Christi, Texas.

Abstract: Direct-to-consumer genetic and genomic testing (DTCGT) has paved the way for consumers to gain information about their genetic makeup. Consumers may seek DTCGT to estimate ethnic background, identify genetic relations, or obtain raw DNA information that can be used for other purposes, such as testing for paternity and identifying genetically linked illnesses. Despite robust progress in genetic and genomic testing, most people have a low exposure threshold to DTCGT. Read More

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Ophthalmic changes in a spaceflight analog are associated with brain functional reorganization.

Hum Brain Mapp 2021 Jun 9. Epub 2021 Jun 9.

Department of Applied Physiology and Kinesiology, University of Florida, Gainesville, Florida, USA.

Following long-duration spaceflight, some astronauts exhibit ophthalmic structural changes referred to as Spaceflight Associated Neuro-ocular Syndrome (SANS). Optic disc edema is a common sign of SANS. The origin and effects of SANS are not understood as signs of SANS have not manifested in previous spaceflight analog studies. Read More

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Liquid biopsy in gliobastoma management: from current research to future perspectives.

Oncologist 2021 Jun 8. Epub 2021 Jun 8.

Department of Medical Oncology, Azienda USL of Bologna, Bologna, Italy.

Glioblastoma (GBM) is the most common primary tumor of the central nervous system. Arising from neuroepithelial glial cells, GBM is characterized by invasive behavior, extensive angiogenesis and genetic heterogeneity that contributes to poor prognosis and treatment failure. Currently, there are several molecular biomarkers available to aid in diagnosis, prognosis and predicting outcome of the treatment; however, all require the biopsy of tumor tissue. Read More

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Molecular typing, biofilm production, and detection of carbapenemase genes in multidrug-resistant Acinetobacter baumannii isolated from different infection sites using ERIC-PCR in Hamadan, west of Iran.

BMC Pharmacol Toxicol 2021 Jun 8;22(1):32. Epub 2021 Jun 8.

Department of Microbiology, Faculty of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran.

Background: Acinetobacter baumannii is an opportunistic pathogen that can cause several kinds of nosocomial infections. Increasing antibiotic resistance as well as identifying genetic diversity and factors associated with pathogenicity and prevalence of this bacterium is important. The aim of this study was the investigation of molecular typing, biofilm production, and detection of carbapenemase genes in multidrug-resistant Acinetobacter baumannii isolated from different infection sites using ERIC-PCR in Iran. Read More

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Integration of population and functional genomics to understand mechanisms of artemisinin resistance in Plasmodium falciparum.

Int J Parasitol Drugs Drug Resist 2021 May 26;16:119-128. Epub 2021 May 26.

Center for Vaccine Development and Global Health, University of Maryland School of Medicine, Baltimore, MD, USA. Electronic address:

Resistance to antimalarial drugs, and in particular to the artemisinin derivatives and their partner drugs, threatens recent progress toward regional malaria elimination and eventual global malaria eradication. Population-level studies utilizing whole-genome sequencing approaches have facilitated the identification of regions of the parasite genome associated with both clinical and in vitro drug-resistance phenotypes. However, the biological relevance of genes identified in these analyses and the establishment of a causal relationship between genotype and phenotype requires functional characterization. Read More

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Experimental-Evolution-Driven Identification of Rhizosphere Competence Genes in Pseudomonas protegens.

mBio 2021 Jun 8:e0092721. Epub 2021 Jun 8.

Plant-Microbe Interactions, Department of Biology, Science4Life, Utrecht University, Utrecht, The Netherlands.

Beneficial plant root-associated microorganisms carry out a range of functions that are essential for plant performance. Establishment of a bacterium on plant roots, however, requires overcoming several challenges, including competition with neighboring microorganisms and host immunity. Forward and reverse genetics have led to the identification of mechanisms that are used by beneficial microorganisms to overcome these challenges, such as the production of iron-chelating compounds, the formation of strong biofilms, or the concealment of characteristic microbial molecular patterns that trigger the host immune system. Read More

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