249,783 results match your criteria genetic risk


Possible Relationship between the HLA-DRA1 Intron Haplotype of Three Single-Nucleotide Polymorphisms in Intron 1 of the HLA-DRA1 Gene and Autoantibodies in Children at Increased Genetic Risk for Autoimmune Type 1 Diabetes.

Immunohorizons 2022 Aug 18;6(8):614-629. Epub 2022 Aug 18.

Department of Clinical Sciences, Lund University/Clinical Research Centre, Skåne University Hospital, Malmö, Sweden; and.

Recently, a haplotype of three single-nucleotide polymorphisms (tri-SNP) in intron 1 of the HLA-DRA1 gene was found to be strongly associated with type 1 diabetes risk in HLA-DR3/3 individuals. The tri-SNP reportedly function as "expression quantitative trait loci," modulating HLA-DR and -DQ expression. The aim was to investigate HLA-DRA1 tri-SNPs in relation to extended HLA class II haplotypes and human peripheral blood cell HLA-DQ cell-surface median fluorescence intensity (MFI), the first-appearing islet autoantibody, and autoimmunity burden. Read More

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Simultaneous reductions in antibiotic, antibiotic resistance genes and nitrogen loss during bioaugmentation tylosin fermentation dregs co-composting.

Sci Total Environ 2022 Aug 15:158069. Epub 2022 Aug 15.

School of Environmental Science and Engineering, Tongji University, 1239 Siping Road, Shanghai 200092, China. Electronic address:

Considering the main problems presented in the typical solid wastes antibiotic fermentation dregs (AFDs) composting that the residual antibiotics could result in the propagation of antibiotic resistance genes (ARGs), and the reduced value of agronomic production caused by the ammonia gas (NH) emissions. This study established a bio-augmented tylosin fermentation dregs (TFDs) aerobic co-composting system to investigate the effects of a novel isolated high-efficiency strain Klebsiella sp. TN-1 inoculation on tylosin degradation, reduction in ammonia emissions, and ARG abundances during this process. Read More

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Disproportionate loss of threatened terrestrial mammals along anthropogenic disturbance gradients.

Sci Total Environ 2022 Aug 15:158038. Epub 2022 Aug 15.

State Key Laboratory of Genetic Resources and Evolution & Yunnan Key Laboratory of Biodiversity and Ecological Security of Gaoligong Mountain, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650201, China. Electronic address:

Tens of thousands of species are increasingly confronted with habitat degradation and threatened with local extirpation and global extinction as a result of human activities. Understanding the local processes that shape the regional distribution patterns of at-risk species is useful in safeguarding species against threats. However, there is only limited understanding of the processes that shape the regional distribution patterns of threatened species. Read More

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Characterization and epidemiological analysis of Vibrio parahaemolyticus isolated from different marine products in East China.

Int J Food Microbiol 2022 Aug 2;380:109867. Epub 2022 Aug 2.

College of Veterinary Medicine, Nanjing Agricultural University, OIE Reference Lab for Swine Streptococcosis, Key Lab Animal Bacteriology, Ministry of Agriculture, Nanjing 210095, China. Electronic address:

Vibrio parahaemolyticus is a major foodborne pathogen with a wide distribution in the world that causes economic and public health problems. Here, we isolated 152 V. parahaemolyticus strains from shellfish, shrimp, crab, and snails from 5 provinces in East China, and analyzed the genetic diversity, population structure, and virulence profiles of these isolates. Read More

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A systematic review of genetic variation within nicotinic acetylcholine receptor genes and cigarette smoking cessation.

Drug Alcohol Depend 2022 Aug 5;239:109596. Epub 2022 Aug 5.

Department of Epidemiology and Biostatistics, Arnold School of Public Health, University of South Carolina, Columbia, SC 29208, USA.

Background: Nicotine produces its effects by binding to nicotinic acetylcholine receptors (nAChRs). Variants of genes encoding properties of nAChRs are candidates for affecting likelihood of smoking cessation.

Methods: A systematic review was conducted summarizing evidence of associations between single nucleotide polymorphisms (SNPs) of nAChR genes and smoking cessation. Read More

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Functional regulatory variants implicate distinct transcriptional networks in dementia.

Science 2022 Aug 19;377(6608):eabi8654. Epub 2022 Aug 19.

Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.

Predicting the function of noncoding variation is a major challenge in modern genetics. In this study, we used massively parallel reporter assays to screen 5706 variants identified from genome-wide association studies for both Alzheimer's disease (AD) and progressive supranuclear palsy (PSP), identifying 320 functional regulatory variants (frVars) across 27 loci, including the complex 17q21.31 region. Read More

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Screening of drug candidates against Endothelin-1 to treat hypertension using computational based approaches: Molecular docking and dynamics simulation.

PLoS One 2022 18;17(8):e0269739. Epub 2022 Aug 18.

Department of Bioinformatics & Biotechnology, Government College University Faisalabad-Pakistan, Faisalabad, Pakistan.

Hypertension (HTN) is a major risk factor for cardiovascular and renal diseases, cerebrovascular accidents (CVA) and a prime underlying cause of worldwide morbidity and mortality. Hypertension is a complex condition and a strong interplay of multiple genetic, epigenetic and environmental factors is involved in its etiology. Previous studies showed an association of overexpression of genes with hypertension. Read More

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Changing patterns of referral into a family history clinic and detection of ovarian cancer: a retrospective 10-year review.

J Obstet Gynaecol 2022 Aug 18:1-7. Epub 2022 Aug 18.

Department of Obstetrics and Gynaecology, University Hospitals of Derby and Burton, Derby, UK.

This study examines whether a change in the criteria for genetic testing for ovarian cancer risk changed the nature of referrals into our Familial Cancer service. This is a retrospective review of 273 women who underwent risk reducing surgery (RRS). The primary outcome was to establish whether there was an increase in women having RRS with a confirmed genetic mutation. Read More

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Histone deacetylase 1, Sirtuin 1, and Sirtuin 3 single-nucleotide polymorphisms and the risk of endometriosis in South Indian women.

J Obstet Gynaecol 2022 Aug 18:1-6. Epub 2022 Aug 18.

Department of Biochemistry, Osmania University, Hyderabad, India.

The aim of the study was to investigate the association between Histone deacetylase 1 (), Sirtuin1 (), and Sirtuin3 () single-nucleotide polymorphisms (SNPs) and risk of endometriosis in South Indian women. A total of 300 subjects were recruited in this case-control study comprising 150 affected women and 150 women with no evidence of disease. All the subjects were of South Indian origin. Read More

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A polygenic risk score predicts atrial fibrillation in cardiovascular disease.

Eur Heart J 2022 Aug 18. Epub 2022 Aug 18.

Department for Medicine, TIMI Study Group, Boston, MA, USA.

Aims: Interest in targeted screening programmes for atrial fibrillation (AF) has increased, yet the role of genetics in identifying patients at highest risk of developing AF is unclear.

Methods And Results: A total of 36,662 subjects without prior AF were analyzed from four TIMI trials. Subjects were divided into quintiles using a validated polygenic risk score (PRS) for AF. Read More

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Do variants in the coding regions of FOXP2, a gene implicated in speech disorder, confer a risk for congenital amusia?

Ann N Y Acad Sci 2022 Aug 18. Epub 2022 Aug 18.

Montreal Neurological Institute and Hospital, McGill University, Montréal, Québec, Canada.

Congenital amusia is a lifelong disorder that compromises the normal development of musical abilities in 1.5-4% of the general population. There is a substantial genetic contribution to congenital amusia, and it bears similarities to neurodevelopmental disorders of language. Read More

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Association of the gene rs1800796 polymorphism with recurrent pregnancy loss in a population of women from northwestern China: a case-control study.

J Obstet Gynaecol 2022 Aug 18:1-6. Epub 2022 Aug 18.

Research Institute of Clinical Medical Science, Gansu Provincial Maternity and Child-care Hospital, Lanzhou, China.

We aimed to identify whether (rs1143627, rs1143634 and rs16944), (rs1800796), (rs1800872 and rs1800896), and vascular endothelial growth factor () (rs1570360) gene polymorphisms were risk factors for recurrent pregnancy loss (RPL) in a population of women in northwestern China. A total of 150 women with a history of two or more unexplained and consecutive spontaneous abortions before their 24th gestational week and 150 age-matched women with at least two normal pregnancies and no history of pregnancy loss were included in the present study as cases and controls, respectively. We extracted genomic DNA from peripheral blood, and executed genotyping with the SNaPshot technique. Read More

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Clinical and Genetic Risk Factors for Acute Incident Venous Thromboembolism in Ambulatory Patients With COVID-19.

JAMA Intern Med 2022 Aug 18. Epub 2022 Aug 18.

Centre for Statistics in Medicine and National Institute for Health and Care Research Biomedical Research Centre Oxford, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, England.

Importance: The risk of venous thromboembolism (VTE) in ambulatory COVID-19 is controversial. In addition, the association of vaccination with COVID-19-related VTE and relevant clinical and genetic risk factors remain to be elucidated.

Objective: To quantify the association between ambulatory COVID-19 and short-term risk of VTE, study the potential protective role of vaccination, and investigate clinical and genetic risk factors for post-COVID-19 VTE. Read More

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Single-Cell Transcriptional Profiling and Gene Regulatory Network Modeling in Tg2576 Mice Reveal Gender-Dependent Molecular Features Preceding Alzheimer-Like Pathologies.

Mol Neurobiol 2022 Aug 18. Epub 2022 Aug 18.

Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, 7 avenue des Hauts Fourneaux, L-4362, Esch-sur-Alzette, Luxembourg.

Alzheimer's disease (AD) onset and progression is influenced by a complex interplay of several environmental and genetic factors, one of them gender. Pronounced gender differences have been observed both in the relative risk of developing AD and in clinical disease manifestations. A molecular level understanding of these gender disparities is still missing, but could provide important clues on cellular mechanisms modulating the disease and reveal new targets for gender-oriented disease-modifying precision therapies. Read More

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Tumor Growth Rate as a Predictive Marker for Recurrence and Survival After Liver Resection in Patients with Liver Metastases of Uveal Melanoma.

Ann Surg Oncol 2022 Aug 18. Epub 2022 Aug 18.

Department of Surgical Oncology, Institut Curie, PSL Research University, Paris, France.

Background: Surgical management of liver metastases of uveal melanoma (LMUM) is associated with the best survival rates, especially for patients with a low tumor burden in the liver. The aim was to determine whether the tumor growth rate (TGR) before liver resection helps predict survival in patients with resectable LMUM.

Methods: This retrospective study included 99 patients with LMUM treated with liver resection between November 2007 and November 2020. Read More

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A Spectrum of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)-Diagnostic Utility of Perinatal Autopsy.

Indian J Pediatr 2022 Aug 18. Epub 2022 Aug 18.

Department of Pathology, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu 641004, India.

Objective: To describe the spectrum of congenital renal anomalies and emphasize the critical role of comprehensive autopsy examination in identifying CAKUT, especially of lower urinary tract malformations correlating with prenatal imaging methods.

Methods: Retrospective analyses of CAKUT diagnosed at fetal autopsy were analyzed over a 7-y period and correlated with prenatal imaging findings.

Result: Among the 255 fetal autopsies, 45 cases were detected with CAKUT. Read More

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Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.

Mol Biol Rep 2022 Aug 18. Epub 2022 Aug 18.

Faculdade de Farmácia, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.

Background: About 5-10% of breast cancer cases are related to genetic and hereditary factors. The application of Next Generation Sequencing (NGS) in oncology has allowed the identification of genetic variants present in several genes related to the increased risk of breast cancer. This study aimed to determine the frequency of germline genetic variants in patients with a family and/or personal history of breast cancer. Read More

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Duckweed: a potential phytosensor for heavy metals.

Plant Cell Rep 2022 Aug 18. Epub 2022 Aug 18.

Department of Food Science, University of Tennessee, 102 Food Safety and Processing Building 2600 River Dr., Knoxville, TN, 37996, USA.

Globally, heavy metal (HM) contamination is one of the primary causes of environmental pollution leading to decreased quality of life for those affected. In particular, HM contamination in groundwater poses a serious risk to human health and the potential for destabilization of aquatic ecosystems. At present, strategies to remove HM contamination from wastewater are inefficient, costly, laborious, and often the removal poses as much risk to the environment as the initial contamination. Read More

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Clinical and Experimental Treatment of Type-1 Diabetes.

Clin Exp Immunol 2022 Aug 18. Epub 2022 Aug 18.

Center for Translational Immunology, Benaroya Research Institute at Virginia Mason; 1201 Ninth Avenue, Seattle WA 98101, USA.

Type 1 diabetes (T1D) is an autoimmune disease resulting in destruction of the insulin-producing pancreatic beta cells. Disease progression occurs along a trajectory from genetic risk, the development of islet autoantibodies and autoreactive T cells ultimately progressing to clinical disease. Natural history studies and mechanistic studies linked to clinical trials have provided insight into the role of the immune system in disease pathogenesis. Read More

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Heterozygous BRCA1/2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents with Cancer.

J Natl Cancer Inst 2022 Aug 18. Epub 2022 Aug 18.

Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.

Background: Genetic predisposition is a significant cause of cancer, yet little is known about the role of "adult cancer predisposition syndromes" in childhood cancer. We examined the extent to which heterozygous pathogenic germline variants in BRCA1, BRCA2, PALB2, ATM, CHEK2, MSH2, MSH6, MLH1, and PMS2 contribute to cancer risk in children and adolescents.

Methods: We conducted a meta-analysis of 11 studies that incorporated comprehensive germline testing for children and adolescents with cancer. Read More

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Obstetric complications and cognition in schizophrenia: a systematic review and meta-analysis.

Psychol Med 2022 Aug 18:1-11. Epub 2022 Aug 18.

Barcelona Clínic Schizophrenia Unit, Neuroscience Institute, Hospital Clínic of Barcelona, Barcelona, Catalonia, Spain.

Background: Schizophrenia (SZ) is a complex brain disorder linked to cognitive and neurostructural abnormalities that involves genetic and environmental factors with obstetric complications (OCs) at birth conferring a high risk for the disease. Indeed, current research in the general population describes the deleterious effect of OCs on cognitive performance in adulthood. With this rationale, we aim to review the relationship between OCs and cognition in SZ and related psychotic disorders. Read More

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Recent advances in elucidating the genetic basis of systemic sclerosis.

Curr Opin Rheumatol 2022 Aug 17. Epub 2022 Aug 17.

Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Armilla.

Purpose Of Review: Systemic sclerosis (SSc) is a complex autoimmune disorder that affects the connective tissue and causes severe vascular damage and fibrosis of the skin and internal organs. There are recent advances in the field that apply novel methods to high throughput genotype information of thousands of patients with SSc and provide promising results towards the use of genomic data to help SSc diagnosis and clinical care.

Recent Findings: This review addresses the development of the first SSc genomic risk score, which can contribute to differentiating SSc patients from healthy controls and other immune-mediated diseases. Read More

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Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants: application of a points-based ACMG/AMP approach.

Hum Mutat 2022 Aug 18. Epub 2022 Aug 18.

Ambry Genetics, "Aliso Viejo, CA", USA.

Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splice event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exon 3. Bioinformatically predicted spliceogenic variants underwent mRNA splicing analysis using minigenes and/or patient samples. Read More

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Genetic basis of defects in immune tolerance underlying the development of autoimmunity.

Front Immunol 2022 1;13:972121. Epub 2022 Aug 1.

Center for Translational Immunology, Benaroya Research Institute at Virginia Mason, Seattle, WA, United States.

Genetic variants associated with susceptibility to autoimmune disease have provided important insight into the mechanisms responsible for the loss of immune tolerance and the subsequent development of autoantibodies, tissue damage, and onset of clinical disease. Here, we review how genetic variants shared across multiple autoimmune diseases have contributed to our understanding of global tolerance failure, focusing on variants in the human leukocyte antigen region, PTPN2 and PTPN22, and their role in antigen presentation and T and B cell homeostasis. Variants unique to a specific autoimmune disease such as those in PADI2 and PADI4 that are associated with rheumatoid arthritis are also discussed, addressing their role in disease-specific immunopathology. Read More

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Herpesvirus entry mediator on T cells as a protective factor for myasthenia gravis: A Mendelian randomization study.

Front Immunol 2022 1;13:931821. Epub 2022 Aug 1.

Huashan Rare Disease Center and Department of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, National Center for Neurological Disorders, Shanghai, China.

Background And Objectives: Myasthenia gravis (MG) is a T cell-driven, autoantibody-mediated disorder affecting transmission in neuromuscular junctions. The associations between the peripheral T cells and MG have been extensively studied. However, they are mainly of observational nature, thus limiting our understanding of the effect of inflammatory biomarkers on MG risk. Read More

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Genetic association of apolipoprotein E genotype with EEG alpha rhythm slowing and functional brain network alterations during normal aging.

Front Neurosci 2022 1;16:931173. Epub 2022 Aug 1.

Center for Genetics and Life Science, Sirius University of Science and Technology, Sochi, Russia.

The ε4 allele of the apolipoprotein E (4+) genotype is a major genetic risk factor for Alzheimer's disease (AD), but the mechanisms underlying its influence remain incompletely understood. The study aimed to investigate the possible effect of the genotype on spontaneous electroencephalogram (EEG) alpha characteristics, resting-state functional MRI (fMRI) connectivity (rsFC) in large brain networks and the interrelation of alpha rhythm and rsFC characteristics in non-demented adults during aging. We examined the EEG alpha subband's relative power, individual alpha peak frequency (IAPF), and fMRI rsFC in non-demented volunteers (age range 26-79 years) stratified by the genotype. Read More

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species causing downy mildew diseases of , including nomenclature revisions and diagnostic resources.

Fungal Syst Evol 2022 Jun 8;9:43-86. Epub 2022 Apr 8.

Goethe University, Department of Biological Sciences, Institute of Ecology, Evolution and Diversity, Senckenberg Biodiversity and Climate Research Centre, Frankfurt am Main, Germany.

Downy mildew pathogens of graminicolous hosts () are members of eight morphologically and phylogenetically distinct genera in the ( ). Graminicolous downy mildews (GDMs) cause severe losses in crops such as maize, millets, sorghum, and sugarcane in many parts of the world, especially in tropical climates. In countries where the most destructive GDMs are not endemic, these organisms are often designated as high-risk foreign pathogens and subject to oversight and quarantine by regulatory officials. Read More

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Inflammation, microbiome and colorectal cancer disparity in African-Americans: Are there bugs in the genetics?

World J Gastroenterol 2022 Jul;28(25):2782-2801

Department of Oncology, Johns Hopkins University, Baltimore, MD 21231, United States.

Dysregulated interactions between host inflammation and gut microbiota over the course of life increase the risk of colorectal cancer (CRC). While environmental factors and socio-economic realities of race remain predominant contributors to CRC disparities in African-Americans (AAs), this review focuses on the biological mediators of CRC disparity, namely the under-appreciated influence of inherited ancestral genetic regulation on mucosal innate immunity and its interaction with the microbiome. There remains a poor understanding of mechanisms linking immune-related genetic polymorphisms and microbiome diversity that could influence chronic inflammation and exacerbate CRC disparities in AAs. Read More

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Factors early in life associated with hepatic steatosis.

World J Hepatol 2022 Jun;14(6):1235-1247

Division of Gastroenterology and Hepatology, Department of Medicine, National University Hospital, Singapore 119228, Singapore.

Background: The rise in prevalence of non-alcoholic fatty liver disease (NAFLD) mirrors the obesity epidemic. NAFLD is insidious but may gradually progress from simple steatosis to steatohepatitis, fibrosis and cirrhosis and/or hepatocellular carcinoma. Intervention strategies to ameliorate developmental programming of NAFLD may be more efficacious during critical windows of developmental plasticity. Read More

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