345,307 results match your criteria polymorphisms


Evaluation of proteinase K-resistant prion protein (PrPres) in Korean native black goats carrying a potential scrapie-susceptible haplotype of the prion protein gene (PRNP).

Acta Vet Hung 2021 Apr 10. Epub 2021 Apr 10.

1Korea Zoonosis Research Institute, Jeonbuk National University, 820-120 Hana-ro, Iksan, Jeonbuk 54531, Republic of Korea.

Prion disease is a fatal neurodegenerative disease with a broad host range in humans and animals. It is caused by proteinase K-resistant prion protein (PrPres). In previous studies, a heterogeneous infection in Cervidae and Caprinae was reported. Read More

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ICBP90 Regulates MIF Expression, Glucocorticoid Sensitivity, and Apoptosis at the , MIF Immune Susceptibility Locus.

Arthritis Rheumatol 2021 Apr 12. Epub 2021 Apr 12.

Departments of Medicine and Pathology, Yale University School of Medicine, New Haven, CT, USA.

Background: Macrophage migration inhibitory factor (MIF) is an inflammatory and neurorendocrine mediator that counter-regulates glucocorticoid immunosuppression. MIF polymorphisms, which comprise a variant promoter microsatellite (-794 CATT ), are linked genetically to autoimmune disease severity and to glucocorticoid resistance. While invasive stimuli increase MIF expression, MIF also is upregulated by glucocorticoids, which serves as a physiologic regulator of the inflammatory responses. Read More

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Eczema herpeticum in atopic dermatitis.

Allergy 2021 Apr 12. Epub 2021 Apr 12.

Department of Dermatology and Allergy, Division of Immunodermatology and Allergy Research, Hannover Medical School, Hannover, Germany.

Atopic dermatitis (AD) is one of the most common chronic inflammatory skin disease leading to pruritic skin lesions. A subset of AD patients exhibitsa disseminated severe HSV infection called eczema herpeticum (EH) which can cause life-threatening complications. This review gives an overview of the clinical picture, and characteristics of the patients as well as the diagnosis and therapy of EH. Read More

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Meta-analysis of Association Studies of Selenoprotein Gene Polymorphism and Kashin-Beck Disease: an Updated Systematic Review.

Biol Trace Elem Res 2021 Apr 12. Epub 2021 Apr 12.

Department of Occupational and Environmental Health, School of Public Health, Zhengzhou University, Environment and Health Innovation Team, 100 Kexue Avenue, Zhengzhou, Henan, 450001, People's Republic of China.

To evaluate the association between selenoprotein gene polymorphisms and Kashin-Beck disease (KBD) susceptibility through a systematic review and updated meta-analysis. PubMed, Google Scholar, Cochrane library, and Chinese National Knowledge Infrastructure (CNKI) were electronically searched using the terms "selenoprotein" and "Kashin-Beck disease" or "KBD" with a search time from the establishment of the database to January 2021. The Newcastle-Ottawa Scale (NOS) was used for methodological quality evaluation of the included studies. Read More

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A Tau-Driven Adverse Outcome Pathway Blueprint Toward Memory Loss in Sporadic (Late-Onset) Alzheimer's Disease with Plausible Molecular Initiating Event Plug-Ins for Environmental Neurotoxicants.

J Alzheimers Dis 2021 Apr 3. Epub 2021 Apr 3.

ToxGenSolutions, Maastricht, The Netherlands.

The worldwide prevalence of sporadic (late-onset) Alzheimer's disease (sAD) is dramatically increasing. Aging and genetics are important risk factors, but systemic and environmental factors contribute to this risk in a still poorly understood way. Within the frame of BioMed21, the Adverse Outcome Pathway (AOP) concept for toxicology was recommended as a tool for enhancing human disease research and accelerating translation of data into human applications. Read More

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Leber's hereditary optic neuropathy: Diagnostic pitfalls in genetic testing.

Eur J Ophthalmol 2021 Apr 10:11206721211008787. Epub 2021 Apr 10.

University of Bern, Bern, Switzerland.

Purpose: To investigate the possibility and consequences of false positive testing for Leber's hereditary optic neuropathy (LHON) using repeated testing.

Methods: In three cases of suspected LHON, initial mutation analysis using restriction fragment length polymorphism (RFLP) and direct sequencing showed rare mtDNA mutations at nt 14482 in two cases and a mutation in nt 14484 in the third case which has been associated with a mild variant of LHON. All three patients consulted a specialized neuro-ophthalmology center for a second opinion. Read More

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Mutational analyses of novel rat models with targeted modifications in inflammatory bowel disease susceptibility genes.

Mamm Genome 2021 Apr 11. Epub 2021 Apr 11.

Rat Resource and Research Center, University of Missouri, Columbia, MO, 65201, USA.

Mutations and single base pair polymorphisms in various genes have been associated with increased susceptibility to inflammatory bowel disease (IBD). We have created a series of rat strains carrying targeted genetic alterations within three IBD susceptibility genes: Nod2, Atg16l1, and Il23r, using CRISPR/Cas9 genome editing technology. Knock-out alleles and alleles with known human susceptibility polymorphisms were generated on three different genetic backgrounds: Fischer, Lewis and Sprague Dawley. Read More

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Genetically predicted bipolar disorder is causally associated with an increased risk of breast cancer: a two-sample Mendelian randomization analysis.

Ann Transl Med 2021 Mar;9(5):401

Department of Thoracic Oncology and Surgery, China State Key Laboratory of Respiratory Disease & National Clinical Research Center for Respiratory Disease, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Background: Epidemiologic findings suggested that bipolar disorder (BD) may be associated with an increased risk of breast cancer. However, there are few studies that comprehensively evaluating their correlation and the causal effect remains unknown. With a two-sample Mendelian randomization (MR) approach, we were able to investigate the causal relationship between genetically predicted BD and breast cancer risk. Read More

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Association of genetic variants of and in the peroxisome pathway with cutaneous melanoma-specific survival.

Ann Transl Med 2021 Mar;9(5):396

Duke Cancer Institute, Duke University Medical Center, Durham, NC, USA.

Background: Peroxisomes are ubiquitous and dynamic organelles that are involved in the metabolism of reactive oxygen species (ROS) and lipids. However, whether genetic variants in the peroxisome pathway genes are associated with survival in patients with melanoma has not been established. Therefore, our aim was to identify additional genetic variants in the peroxisome pathway that may provide new prognostic biomarkers for cutaneous melanoma (CM). Read More

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Investigating the morphological and genetic divergence of arctic char ( populations in lakes of arctic Alaska.

Ecol Evol 2021 Apr 5;11(7):3040-3057. Epub 2021 Mar 5.

Department of Watershed Sciences and the Ecology Center Utah State University Logan UT USA.

Polymorphism facilitates coexistence of divergent morphs (e.g., phenotypes) of the same species by minimizing intraspecific competition, especially when resources are limiting. Read More

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Effects of Methylene Tetrahydro Folate Reductase Gene Polymorphisms on Methotrexate Toxicity in Egyptian Pediatric Acute Lymphocytic Leukaemia Patients.

Iran J Pharm Res 2020 ;19(4):387-393

Department of Clinical Pathology, National Cancer Institute, Cairo University, Egypt.

This study was designed to evaluate the effect of Methylenetetrahydrofolate reductase ( gene polymorphisms on MTX toxicity in pediatric Egyptian ALL patients. Ninety-Four of Pediatric ALL patients aged 3-13 years (7.6 ± 3. Read More

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January 2020

Associations of Mitochondrial Variants With Lipidomic Traits in a Chinese Cohort With Coronary Artery Disease.

Front Genet 2021 25;12:630359. Epub 2021 Mar 25.

Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, School of Medicine, South China University of Technology, Guangzhou, China.

Plasma lipids have been at the center stage of the prediction and prevention strategies for cardiovascular diseases (CVDs), and novel lipidomic traits have been recognized as reliable biomarkers for CVD risk prediction. The mitochondria serve as energy supply sites for cells and can synthesize a variety of lipids autonomously. Therefore, investigating the relationships between mitochondrial single nucleotide polymorphism (SNPs) and plasma lipidomic traits is meaningful. Read More

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Genetic Variants in and Are Associated With the Risk of HCV Infection Among Chinese High-Risk Population.

Front Genet 2021 25;12:630310. Epub 2021 Mar 25.

Department of Infectious Diseases, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.

Background: The tumor necrosis factor superfamily () and TNF receptor superfamily () play important roles in the immune responses to infections. The aim of this study was to determine the impact of single nucleotide polymorphisms (SNPs) of several genes on the risk of hepatitis C virus (HCV) infection in the Chinese high-risk population.

Methods: The -rs1234313, -rs7514229, -rs3181366, -rs2295800, -rs2298209, and -rs2230625 SNPs were genotyped in 2309 uninfected controls, 597 subjects with spontaneous HCV clearance and 784 patients with persistent HCV infection using the TaqMan-MGB assay. Read More

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Inference of Ancestries and Heterozygosity Proportion and Genotype Imputation in West African Cattle Populations.

Front Genet 2021 23;12:584355. Epub 2021 Mar 23.

Centre for Genetic Analysis and Applications, School of Environmental and Rural Science, University of New England, Armidale, NSW, Australia.

Several studies have evaluated computational methods that infer the haplotypes from population genotype data in European cattle populations. However, little is known about how well they perform in African indigenous and crossbred populations. This study investigates: (1) global and local ancestry inference; (2) heterozygosity proportion estimation; and (3) genotype imputation in West African indigenous and crossbred cattle populations. Read More

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The History of Lentil ( subsp. ) Domestication and Spread as Revealed by Genotyping-by-Sequencing of Wild and Landrace Accessions.

Front Plant Sci 2021 25;12:628439. Epub 2021 Mar 25.

Interdisciplinary Center for Archaeology and Evolution of Human Behavior (ICArEHB), Universidade do Algarve, Faro, Portugal.

Protein-rich legumes accompanied carbohydrate-rich cereals since the beginning of agriculture and yet their domestication history is not as well understood. Lentil ( Medik. subsp. Read More

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Genetic Polymorphism Drives Susceptibility Between Bacteria and Bacteriophages.

Front Microbiol 2021 24;12:627897. Epub 2021 Mar 24.

Key Laboratory of Emerging Pathogens and Biosafety, Centre for Biosafety Mega-Science, Wuhan Institute of Virology, Chinese Academy of Sciences, Wuhan, China.

Phage therapy has attracted much attention for the treatment of antibiotic-resistant bacteria in recent years. However, it is common for bacteria to obtain resistance capability in short time after interaction with a lytic phage, as observed in phage therapy and co-culture of host and phage in a lab. In order to understand the mechanisms behind resistance, AB91118 and its lytic phage LQ7 were studied as a model system. Read More

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Novel Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype.

Front Aging Neurosci 2021 26;13:658226. Epub 2021 Mar 26.

Perron Institute for Neurological and Translational Science, Nedlands, WA, Australia.

Objective: There is a critical need to establish genetic markers that explain the complex phenotypes and pathogenicity of ALS. This study identified a polymorphism in the Stathmin-2 gene and investigated its association with sporadic ALS (sALS) disease risk, age-of onset and survival duration.

Methods: The candidate CA repeat was systematically analyzed using PCR, Sanger sequencing and high throughput capillary separation for genotyping. Read More

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Analysis of Polymorphisms in microRNAs Deregulated in Alzheimer Disease.

Front Neurosci 2021 24;15:631852. Epub 2021 Mar 24.

Department of Medical Genetics, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.

Background: Alzheimer's disease (AD) is a degenerative condition characterized by progressive cognitive impairment and dementia. Findings have revolutionized current knowledge of miRNA in the neurological conditions. Two regulatory mechanisms determine the level of mature miRNA expression; one is miRNA precursor processing, and the other is gene expression regulation by transcription factors. Read More

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Susceptibility of six polymorphisms in the receptor for advanced glycation end products to type 2 diabetes: a systematic review and meta-analysis.

Endocr J 2021 Apr 9. Epub 2021 Apr 9.

Department of Biochemistry and Molecular Biology, Qiqihar Medical University, Qiqihar, Heilongjiang, 161006, China.

We did a systematic review and meta-analysis, aiming to examine the association of available polymorphisms in the receptor for advanced glycation end products (AGER) gene with the risk of type 2 diabetes. Literature search, eligibility assessment, and data extraction were independently performed by two authors. Risk was expressed as by odds ratio (OR) and 95% confidence interval (CI) under the random-effects model. Read More

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Recent Advances in Computational Metabolite Structure Predictions and Altered Metabolic Pathways Assessment to Inform Drug Development Processes.

Drug Metab Rev 2021 Apr 12:1-37. Epub 2021 Apr 12.

Department of Bioengineering and Therapeutic Sciences, Schools of Pharmacy and Medicine, University of California San Francisco, San Francisco, California 94143, United States.

Many drug candidates fail during preclinical and clinical trials due to variable or unexpected metabolism which may lead to variability in drug efficacy or adverse drug reactions. The drug metabolism field aims to address this important issue from many angles which range from the study of drug-drug interactions, pharmacogenomics, computational metabolic modeling, and others. This manuscript aims to provide brief but comprehensive manuscript summaries highlighting the conclusions and scientific importance of seven exceptional manuscripts published in recent years within the field of drug metabolism. Read More

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Functional annotation of lung cancer‒associated genetic variants by cell type‒specific epigenome and long-range chromatin interactome.

Genomics Inform 2021 Mar 25;19(1):e3. Epub 2021 Mar 25.

Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon 34141, Korea.

Functional interpretation of noncoding genetic variants associated with complex human diseases and traits remains a challenge. In an effort to enhance our understanding of common germline variants associated with lung cancer, we categorize regulatory elements based on eight major cell types of human lung tissue. Our results show that 21. Read More

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Highly pathogenic avian influenza virus H5N6 (clade 2.3.4.4b) has a preferable host tropism for waterfowl reflected in its inefficient transmission to terrestrial poultry.

Virology 2021 Mar 25;559:74-85. Epub 2021 Mar 25.

Avian Virology and Mammalian Influenza Research, Virology Department, Animal and Plant Health Agency (APHA-Weybridge), Addlestone, Surrey, KT15 3NB, UK. Electronic address:

Highly-pathogenic avian influenza virus (HPAIV) H5N6 (clade 2.3.4. Read More

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Natural variation in the oxytocin receptor gene and rearing interact to influence reproductive and nonreproductive social behavior and receptor binding.

Psychoneuroendocrinology 2021 Mar 27;128:105209. Epub 2021 Mar 27.

Department of Psychology, Department of Biology, Program in Neuroscience, Smith College, 44 College Lane, Northampton, MA, USA; Department of Integrative Biology, University of California Berkeley, 3030 Valley Life Sciences Building, Berkeley, CA, USA.

Individual variation in social behavior offers an opportunity to explore gene-by-environment interactions that could contribute to adaptative or atypical behavioral profiles (e.g., autism spectrum disorders). Read More

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Pharmacogenetic predictors of nevirapine pharmacokinetics in Ghanaian children living with HIV with or without TB coinfection.

Infect Genet Evol 2021 Apr 8:104856. Epub 2021 Apr 8.

Department of Medicine, College of Medicine, University of Florida, Gainesville, FL, United States. Electronic address:

Nevirapine (NVP) is a non-nucleoside reverse transcriptase inhibitor that is used in the treatment of human immunodeficiency virus (HIV) infection in children younger than 3 years old. Identifying genetic predictors of NVP pharmacokinetics (PK) in young children is important because inter-individual variability in NVP concentrations contributes to variable treatment response and the information may be used to individualize dosing decisions. We examined the relationship between genetic variations in relevant drug disposition genes and NVP PK parameters in Ghanaian children living with HIV eligible to initiate NVP-based antiretroviral therapy. Read More

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Transcriptional regulation of xenobiotic detoxification genes in insects - An overview.

Pestic Biochem Physiol 2021 May 8;174:104822. Epub 2021 Mar 8.

Université Côte d'Azur, INRAE, CNRS, ISA, F-06903 Sophia Antipolis, France. Electronic address:

Arthropods have well adapted to the vast array of chemicals they encounter in their environment. Whether these xenobiotics are plant allelochemicals or anthropogenic insecticides one of the strategies they have developed to defend themselves is the induction of detoxification enzymes. Although upregulation of detoxification enzymes and efflux transporters in response to specific inducers has been well described, in insects, yet, little is known on the transcriptional regulation of these genes. Read More

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Association of Tumor Necrosis Factor-α -308G>A, -238G>A and -376G>A polymorphisms with recurrent pregnancy loss risk in the Greek population.

Fertil Res Pract 2021 Apr 10;7(1). Epub 2021 Apr 10.

1st Department of Obstetrics and Gynecology 'Alexandra' General Hospital, Molecular Biology Unit, Division of Human Reproduction and Recurrent Abortions, National and Kapodistrian University of Athens, 80, Vasilissis Sofias Ave., 11528, Athens, Greece.

Background: Promoter region SNPs in TNF-α have been studied in association with Recurrent Pregnancy Loss (RPL) occurrence in various populations. Among them, -238G > A, -308G > A and - 376G > A have been frequently investigated for their potential role in recurrent abortions. The aim of the present study is to evaluate the correlation among TNF-α 238, TNF-α 308 and TNF-α 376 polymorphisms and recurrent pregnancy loss risk in Greek women. Read More

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Identification and evolution analysis of the JAZ gene family in maize.

Authors:
Yang Han Dawn Luthe

BMC Genomics 2021 Apr 10;22(1):256. Epub 2021 Apr 10.

The Pennsylvania State University, Plant Science, University Park, PA, USA.

Background: Jasmonates (JAs) are important for plants to coordinate growth, reproduction, and defense responses. In JA signaling, jasmonate ZIM-domain (JAZ) proteins serve as master regulators at the initial stage of herbivores attacks. Although discovered in many plant species, little in-depth characterization of JAZ gene expression has been reported in the agronomically important crop, maize (Zea mays L. Read More

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Identification of putative key genes for thermal adaptation in the Japanese mantis shrimp (Oratosquilla oratoria) through population genomic analysis.

Comp Biochem Physiol Part D Genomics Proteomics 2021 Mar 28;39:100828. Epub 2021 Mar 28.

Fishery College, Zhejiang Ocean University, Zhoushan, Zhejiang 316022, China. Electronic address:

Little is known about the mechanisms underlying the relationship between genetic variation and the adaptation of Oratosquilla oratoria populations to different habitat temperature. Here, the genome-wide genetic information of three O. oratoria populations were obtained by IIB restriction site-associated DNA (2b-RAD) sequencing and 2403 single-nucleotide polymorphisms (SNPs) were identified. Read More

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Genomic diversity of Listeria monocytogenes isolates from seafood, horticulture and factory environments in New Zealand.

Int J Food Microbiol 2021 Mar 17;347:109166. Epub 2021 Mar 17.

The New Zealand Institute for Plant & Food Research Limited, Auckland, New Zealand.

Listeria monocytogenes is a foodborne human pathogen that causes systemic infection, fetal-placental infection in pregnant women causing abortion and stillbirth and meningoencephalitis in elderly and immunocompromised individuals. This study aimed to analyse L. monocytogenes from different sources from New Zealand (NZ) and to compare them with international strains. Read More

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Association between VPS13C rs2414739 polymorphism and Parkinson's disease risk: A meta-analysis.

Neurosci Lett 2021 Apr 7:135879. Epub 2021 Apr 7.

Department of Neurology, Affiliated Hospital of Qingdao University, Qingdao, China. Electronic address:

Objective: We aimed to estimate the role of vacuolar protein sorting 13C (VPS13C) gene single nucleotide polymorphism (SNP) rs2414739 variant in the risk of PD by meta-analysis.

Methods: Five eligible case-control studies including 2796 PD cases and 4138 health controls involved in this meta-analysis. The fixed or random effect model was selected based on the heterogeneity of the included studies which detected by I and Q tests. Read More

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