73,653 results match your criteria wide association


FAT4 identified as a potential modifier of orofacial cleft laterality.

Genet Epidemiol 2021 Jun 15. Epub 2021 Jun 15.

Department of Human Genetics, Emory University, Atlanta, Georgia, USA.

Orofacial clefts (OFCs) are common (1 in 700 births) congenital malformations that include a cleft lip (CL) and cleft lip and palate (CLP). These OFC subtypes are also heterogeneous themselves, with the CL occurring on the left, right, or both sides of the upper lip. Unilateral CL and CLP have a 2:1 bias towards left-sided clefts, suggesting a nonrandom process. Read More

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Inverse probability weighting is an effective method to address selection bias during the analysis of high dimensional data.

Genet Epidemiol 2021 Jun 15. Epub 2021 Jun 15.

Department of Biostatistics and Informatics, Colorado School of Public Health, Aurora, Colorado, USA.

Omics studies frequently use samples collected during cohort studies. Conditioning on sample availability can cause selection bias if sample availability is nonrandom. Inverse probability weighting (IPW) is purported to reduce this bias. Read More

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Alteration of brain structural connectivity in progression of Parkinson's disease: A connectome-wide network analysis.

Neuroimage Clin 2021 Jun 6;31:102715. Epub 2021 Jun 6.

Department of Neurobiology, Neurology and Geriatrics, Xuanwu Hospital, Capital Medical University, National Clinical Research Center for Geriatric Disease, Beijing, China. Electronic address:

Pinpointing the brain dysconnectivity in idiopathic rapid eye movement sleep behaviour disorder (iRBD) can facilitate preventing the conversion of Parkinson's disease (PD) from prodromal phase. Recent neuroimage investigations reported disruptive brain white matter connectivity in both iRBD and PD, respectively. However, the intrinsic process of the human brain structural network evolving from iRBD to PD still remains largely unknown. Read More

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Exome variant discrepancies due to reference genome differences.

Am J Hum Genet 2021 Jun 11. Epub 2021 Jun 11.

Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

Despite release of the GRCh38 human reference genome more than seven years ago, GRCh37 remains more widely used by most research and clinical laboratories. To date, no study has quantified the impact of utilizing different reference assemblies for the identification of variants associated with rare and common diseases from large-scale exome-sequencing data. By calling variants on both the GRCh37 and GRCh38 references, we identified single-nucleotide variants (SNVs) and insertion-deletions (indels) in 1,572 exomes from participants with Mendelian diseases and their family members. Read More

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Pharmacogenetics-guided advances in antipsychotic treatment.

Clin Pharmacol Ther 2021 Jun 15. Epub 2021 Jun 15.

Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.

Pharmacogenetics (PGx) research over the past two decades has produced extensive evidence for the influence of genetic factors on the efficacy and tolerability of antipsychotic treatment. However, the application of these findings to optimize treatment outcomes for patients in clinical practice has been limited. This paper presents a meta-review of key PGx findings related to antipsychotic response and common adverse effects, including antipsychotic-induced weight gain (AIWG), tardive dyskinesia (TD) and clozapine-induced agranulocytosis (CIAG), and highlights advances and challenges in clinical implementation. Read More

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Sperm parameters and mitochondrial DNA sequence variants among patients at a fertility clinic in Ghana.

PLoS One 2021 15;16(6):e0252923. Epub 2021 Jun 15.

Department of Biochemistry, Cell and Molecular Biology, University of Ghana, Legon, Accra, Ghana.

Purpose: The present study sought to investigate the common abnormalities and mtDNA mutations in the sperm of Ghanaian men attending the fertility Clinic at the Korle-Bu Teaching Hospital (KBTH). The study therefore provides a baseline data mtDNA mutations in a cross-section of Ghanaian men on referral to the fertility clinic at the KBTH.

Materials And Methods: The semen of 55 men attending the fertility clinic were collected from the Urology and the Obstetrics and Gynaecology Departments of the KBTH. Read More

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Factors Driving Rapid Adoption of Telemedicine in an Academic Orthopedic Surgery Department.

Telemed J E Health 2021 Jun 15. Epub 2021 Jun 15.

Department of Orthopedic Surgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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C/Can City Engagement Process: An Implementation Framework for Strengthening Cancer Care in Cities in Low- and Middle-Income Countries.

JCO Glob Oncol 2021 Jun;7:901-916

City Cancer Challenge, Geneva, Switzerland.

The effective implementation of locally adapted cancer care solutions in low- and middle-income countries continues to be a challenge in the face of fragmented and inadequately resourced health systems. Consequently, the translation of global cancer care targets to local action for patients has been severely constrained. City Cancer Challenge (C/Can) is leveraging the unique value of cities as enablers in a health systems response to cancer that prioritizes the needs of end users (patients, their caregivers and families, and health care providers). Read More

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Palliative Care Nursing Development in the Middle East and Northeast Africa: Lessons From Oman.

J Cancer Educ 2021 Jun 15. Epub 2021 Jun 15.

School of Medicine and College of Nursing, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.

Nurses are on the frontline of palliative care, and in some countries, are the only contact for patients and families facing life-threatening illness. The Oman Cancer Association in the Sultanate of Oman, in collaboration with the Middle Eastern Cancer Consortium and the Oncology Nursing Society, led a palliative care initiative over the past decade to better integrate palliative care into the health care system. Components of this initiative include integrating palliative care into the health care curricula and providing palliative care education to over 400 nurses and other health care professionals within Oman. Read More

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Current opinion on the pharmacogenomics of paclitaxel-induced toxicity.

Expert Opin Drug Metab Toxicol 2021 Jun 15. Epub 2021 Jun 15.

Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

: Paclitaxel is a microtubule stabilizer that is currently one of the most utilized chemotherapeutic agents. Its efficacy in breast, uterine, lung and other neoplasms made its safety profile enhancement a subject of great interest. Neurotoxicity is the most common paclitaxel-associated toxicities. Read More

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Genetic architecture of 11 organ traits derived from abdominal MRI using deep learning.

Elife 2021 Jun 15;10. Epub 2021 Jun 15.

Calico Life Sciences LLC, South San Francisco, United States.

Cardiometabolic diseases are an increasing global health burden. While socioeconomic, environmental, behavioural, and genetic risk factors have been identified, a better understanding of the underlying mechanisms is required to develop more effective interventions. Magnetic resonance imaging (MRI) has been used to assess organ health, but biobank-scale studies are still in their infancy. Read More

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Chromatin-directed proteomics-identified network of endogenous androgen receptor in prostate cancer cells.

Oncogene 2021 Jun 14. Epub 2021 Jun 14.

Institute of Biomedicine, Faculty of Health Sciences, University of Eastern Finland, Kuopio, Finland.

Treatment of prostate cancer confronts resistance to androgen receptor (AR)-targeted therapies. AR-associated coregulators and chromatin proteins hold a great potential for novel therapy targets. Here, we employed a powerful chromatin-directed proteomics approach termed ChIP-SICAP to uncover the composition of chromatin protein network, the chromatome, around endogenous AR in castration resistant prostate cancer (CRPC) cells. Read More

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Inter-individual body mass variations relate to fractionated functional brain hierarchies.

Commun Biol 2021 Jun 14;4(1):735. Epub 2021 Jun 14.

McConnell Brain Imaging Centre, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada.

Variations in body mass index (BMI) have been suggested to relate to atypical brain organization, yet connectome-level substrates of BMI and their neurobiological underpinnings remain unclear. Studying 325 healthy young adults, we examined associations between functional connectivity and inter-individual BMI variations. We utilized non-linear connectome manifold learning techniques to represent macroscale functional organization along continuous hierarchical axes that dissociate low level and higher order brain systems. 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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C-reactive protein is superior to fecal biomarkers for evaluating colon-wide active inflammation in ulcerative colitis.

Sci Rep 2021 Jun 14;11(1):12431. Epub 2021 Jun 14.

First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.

We evaluated the association between endoscopic scores of colonic inflammation and fecal calprotectin (FC), fecal immunochemical occult blood test (FIT), and C-reactive protein (CRP) in patients with ulcerative colitis (UC). Endoscopic scores reflecting the most severe lesion [maximum Mayo Endoscopic Subscore (M-MES) and Ulcerative Colitis Endoscopic Index of Severity (UCEIS)] and those reflecting the inflammation of the entire colon [sum of MES (S-MES) and Ulcerative Colitis Colonoscopic Index of Severity (UCCIS)] were evaluated. FC, FIT, and CRP were measured, and their association with the four endoscopic scores was evaluated. Read More

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A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.

Nat Commun 2021 06 14;12(1):3595. Epub 2021 Jun 14.

Kaiser Permanente Northern California (KPNC), Division of Research, Oakland, CA, USA.

Cataract is the leading cause of blindness among the elderly worldwide and cataract surgery is one of the most common operations performed in the United States. As the genetic etiology of cataract formation remains unclear, we conducted a multiethnic genome-wide association meta-analysis, combining results from the GERA and UK Biobank cohorts, and tested for replication in the 23andMe research cohort. We report 54 genome-wide significant loci, 37 of which were novel. Read More

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Host and gut microbial tryptophan metabolism and type 2 diabetes: an integrative analysis of host genetics, diet, gut microbiome and circulating metabolites in cohort studies.

Gut 2021 Jun 14. Epub 2021 Jun 14.

Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, Maryland, USA.

Objective: Tryptophan can be catabolised to various metabolites through host kynurenine and microbial indole pathways. We aimed to examine relationships of host and microbial tryptophan metabolites with incident type 2 diabetes (T2D), host genetics, diet and gut microbiota.

Method: We analysed associations between circulating levels of 11 tryptophan metabolites and incident T2D in 9180 participants of diverse racial/ethnic backgrounds from five cohorts. 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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Determinants of Lung Fissure Completeness.

Am J Respir Crit Care Med 2021 Jun 14. Epub 2021 Jun 14.

University Medical Center Groningen, Pulmonary diseases, Groningen, Netherlands.

Rationale: New advanced bronchoscopic treatment options for patients with severe COPD have led to increased interest for COPD phenotyping, including fissure completeness.

Objectives: We investigated clinical, environmental, and genetic factors contributing to fissure completeness in patients with and without COPD.

Methods: We used data of 9926 participants of the COPDGene study who underwent chest computed tomography (CT). Read More

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Maternal age at first childbirth and geographical variation in HBV prevalence in Cameroon: Important role of mother-to-child transmission.

Clin Infect Dis 2021 Jun 14. Epub 2021 Jun 14.

Unité d'Épidémiologie des Maladies Émergentes, Institut Pasteur, Paris, France.

Background: The prevalence of hepatitis B virus (HBV) infection varies geographically around the world. However, the underlying reasons for this variation are unknown. Using a nationally representative population-based sample from all 58 administrative divisions in Cameroon, we examined the association between median maternal age at first childbirth in a preceding generation, a proxy for the frequency of mother-to-child transmission (MTCT) of HBV in a region, and the risk of chronic HBV infection, defined as positive surface antigen (HBsAg), in the index generation. Read More

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Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome.

PLoS Negl Trop Dis 2021 Jun 14;15(6):e0009507. Epub 2021 Jun 14.

Laboratório de Bioinformática, Laboratório Nacional de Computação Científica LNCC/MCTIC Petrópolis, Brazil.

Congenital Zika Syndrome (CZS) is a critical illness with a wide range of severity caused by Zika virus (ZIKV) infection during pregnancy. Life-threatening neurodevelopmental dysfunctions are among the most common phenotypes observed in affected newborns. Risk factors that contribute to susceptibility and response to ZIKV infection may be related to the virus itself, the environment, and maternal genetic background. Read More

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Using "-omics" Data to Inform Genome-wide Association Studies (GWASs) in the Osteoporosis Field.

Curr Osteoporos Rep 2021 Jun 14. Epub 2021 Jun 14.

Center for Public Health Genomics, University of Virginia, 800717, Charlottesville, VA, 22908, USA.

Purpose Of Review: Osteoporosis constitutes a major societal health problem. Genome-wide association studies (GWASs) have identified over 1100 loci influencing bone mineral density (BMD); however, few of the causal genes have been identified. Here, we review approaches that use "-omics" data and genetic- and systems genetics-based analytical strategies to facilitate causal gene discovery. Read More

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Genomic signatures of selection for resistance to stripe rust in Austrian winter wheat.

Theor Appl Genet 2021 Jun 14. Epub 2021 Jun 14.

Institute of Biotechnology in Plant Production, Department of Agrobiotechnology, University of Natural Resources and Life Sciences Vienna, Tulln, Austria.

Key Message: We combined quantitative and population genetic methods to identify loci under selection for adult plant resistance to stripe rust in an Austrian winter wheat breeding population from 2008 to 2018. Resistance to stripe rust, a foliar disease caused by the fungus P. striiformis f. Read More

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Genome-wide association study of phenotypes measuring progression from first cocaine or opioid use to dependence reveals novel risk genes.

Explor Med 2021 28;2:60-73. Epub 2021 Feb 28.

Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA 02118, USA.

Aim: Substance use disorders (SUD) result in substantial morbidity and mortality worldwide. Opioids, and to a lesser extent cocaine, contribute to a large percentage of this health burden. Despite their high heritability, few genetic risk loci have been identified for either opioid or cocaine dependence (OD or CD, respectively). Read More

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February 2021

Impact of the Composition of Alcohol/Water Dispersion on the Proton Transport and Morphology of Cast Perfluorinated Sulfonic Acid Ionomer Thin Films.

ACS Omega 2021 Jun 25;6(22):14130-14137. Epub 2021 May 25.

Graduate School of Human and Environmental Studies, Kyoto University, Yoshida nihonmatsu-cho, Sakyo-ku, Kyoto 606-8316, Japan.

The dispersion of perfluorinated sulfonic acid ionomers in catalyst inks is an important factor that controls the performance of catalyst layers in membrane electrode assemblies of polymer electrolyte fuel cells. Herein, the effects of water/alcohol compositions on the morphological properties and proton transport are examined by grazing incidence small-angle X-ray scattering, grazing incidence wide-angle X-ray scattering, and electrochemical impedance spectroscopy. The thin films cast by a high water/alcohol ratio Nafion dispersion have high proton conductivity and well-defined hydrophilic/hydrophobic phase separation, which indicates that the proton conductivity and morphology of the Nafion thin films are strongly influenced by the state of dispersion. Read More

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Current Understanding on Adhesion and Biofilm Development in .

Int J Microbiol 2021 22;2021:6637438. Epub 2021 May 22.

Bioprocess and Bio-Interfaces Team, Faculty of Sciences and Techniques, Sultan Moulay Slimane University, Beni Mellal, Morocco.

Biofilm formation and microbial adhesion are two related and complex phenomena. These phenomena are known to play an important role in microbial life and various functions with positive and negative aspects. have wide distribution in aquatic and terrestrial ecosystems. Read More

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Genome-Wide Association Studies Reveal Susceptibility Loci for Noninfectious Claw Lesions in Holstein Dairy Cattle.

Front Genet 2021 28;12:657375. Epub 2021 May 28.

Animal Science Department, University of California, Davis, Davis, CA, United States.

Sole ulcers (SUs) and white line disease (WLD) are two common noninfectious claw lesions (NICL) that arise due to a compromised horn production and are frequent causes of lameness in dairy cattle, imposing welfare and profitability concerns. Low to moderate heritability estimates of SU and WLD susceptibility indicate that genetic selection could reduce their prevalence. To identify the susceptibility loci for SU, WLD, SU and/or WLD, and any type of noninfectious claw lesion, genome-wide association studies (GWAS) were performed using generalized linear mixed model (GLMM) regression, chunk-based association testing (CBAT), and a random forest (RF) approach. Read More

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Genome-Wide Association Study of Kernel Traits in .

Front Genet 2021 28;12:651785. Epub 2021 May 28.

State Key Laboratory of Crop Gene Exploration and Utilization in Southwest China, Chengdu, China.

is the diploid progenitor of the D subgenome of hexaploid wheat (ivum L.). Here, the phenotypic data of kernel length (KL), kernel width (KW), kernel volume (KV), kernel surface area (KSA), kernel width to length ratio (KWL), and hundred-kernel weight (HKW) for 223 accessions were gathered across three continuous years. Read More

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Appraising the Causal Association of Plasma Homocysteine Levels With Atrial Fibrillation Risk: A Two-Sample Mendelian Randomization Study.

Front Genet 2021 26;12:619536. Epub 2021 May 26.

Key Laboratory of Biotherapy of Zhejiang Province, Department of Cardiology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

Background: Although several observational studies have suggested an association of elevated plasma homocysteine (Hcy) levels with increased risk of atrial fibrillation (AF), it remains unclear whether this association reflects causality. In this study, we aimed to investigate the causal association of plasma Hcy levels with AF risk.

Methods: A two-sample Mendelian randomization (MR) study was designed to investigate the causal association of Hcy with AF. Read More

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Novel Genes and Genetic Loci Associated With Root Morphological Traits, Phosphorus-Acquisition Efficiency and Phosphorus-Use Efficiency in Chickpea.

Front Plant Sci 2021 28;12:636973. Epub 2021 May 28.

Center of Excellence in Genomics and Systems Biology, International Crops Research Institute for the Semi-Arid Tropics (ICRISAT), Hyderabad, India.

Chickpea-the second most important grain legume worldwide-is cultivated mainly on marginal soils. Phosphorus (P) deficiency often restricts chickpea yields. Understanding the genetics of traits encoding P-acquisition efficiency and P-use efficiency will help develop strategies to reduce P-fertilizer application. Read More

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