218,668 results match your criteria investigate genetics

Antiarrhythmic therapy and risk of cumulative ventricular arrhythmias in arrhythmogenic right ventricle cardiomyopathy.

Int J Cardiol 2021 May 4. Epub 2021 May 4.

Cardiothoracovascular Department, Cattinara Hospital, Azienda Sanitaria Universitaria Giuliano Isontina and University of Trieste, Trieste, Italy.

Objectives: The aim of our study was to investigate the benefit of antiarrhythmic drugs (AAD) - beta-blockers, sotalol or amiodarone - in a cohort of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) patients with long-term longitudinal follow up.

Background: AAD are prescribed in ARVC to prevent ventricular arrhythmias and control symptoms. However, there are no controlled clinical trials and knowledges regarding the efficacy of AAD in ARVC are limited. Read More

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METTL3 regulates viral m6A RNA modification and host cell innate immune responses during SARS-CoV-2 infection.

Cell Rep 2021 May 3:109091. Epub 2021 May 3.

Division of Genetics, Program in Immunology, Institute for Genomic Medicine, University of California, San Diego, 9500 Gilman Drive MC 0762, La Jolla, CA 92093, USA; Department of Pediatrics, University of California, San Diego, 9500 Gilman Drive MC 0762, La Jolla, CA 92093, USA. Electronic address:

It is urgent and important to understand the relationship of the widespread severe acute respiratory syndrome coronavirus clade 2 (SARS-CoV-2) with host immune response and study the underlining molecular mechanism. N-methylation of adenosine (m6A) in RNA regulates many physiological and disease processes. Here, we investigate m6A modification of the SARS-CoV-2 gene in regulating the host cell innate immune response. Read More

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Clinicopathological factors associated with tumour-specific mutation detection in plasma of patients with RAS- or BRAF-mutated metastatic colorectal cancer.

Int J Cancer 2021 May 7. Epub 2021 May 7.

Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.

Detection of tumour-specific circulating cell-free DNA in plasma (ctDNA) fails in a significant number of cases depending on the clinical context. The primary aim was to investigate clinicopathological factors associated with detection of ctDNA in patients with RAS-/BRAF-mutated metastatic colorectal cancer (mCRC) prior to first-line therapy. A secondary aim was to evaluate the prognostic impact of ctDNA compared to other biomarkers. Read More

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Increased risk of Alzheimer's disease among patients with age-related macular degeneration: A nationwide population-based study.

PLoS One 2021 7;16(5):e0250440. Epub 2021 May 7.

School of Chinese Medicine, China Medical University, Taichung, Taiwan.

Objective: This study aimed to investigate the risk of Alzheimer's disease among patients with age-related macular degeneration and its association with confounding comorbidities.

Method: This was a population-based, retrospective cohort study. By accessing data from the National Health Insurance Research Database of Taiwan, we identified 10,578 patients aged 50-100 years who were newly diagnosed with age-related macular degeneration between 2000 and 2012 and 10,578 non- age-related macular degeneration individuals. Read More

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Serum Levels of the IgA Isotype Switch Factor TGF-β1 are Elevated in Patients with COVID-19.

FEBS Lett 2021 May 7. Epub 2021 May 7.

State Key Laboratory of Respiratory Disease for Allergy at, Shenzhen University, Key Laboratory of Allergy & Immunology, Shenzhen University School of Medicine, Shenzhen, 518061, China.

We previously observed enhanced immunoglobulin A (IgA) responses in severe COVID-19, which might confer damaging effects. Given the important role of IgA in immune and inflammatory responses, the aim of this study was to investigate the dynamic response of the IgA isotype switch factor TGF-β1 in COVID-19 patients. We observed, in a total of 153 COVID-19 patients, that the serum levels of TGF-β1 were increased significantly at the early and middle stages of COVID-19, and correlated with the levels of SARS-CoV-2-specific IgA, as well as with the APACHE-II score in patients with severe disease. Read More

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Genome-wide association study of cardiac troponin I in the general population.

Hum Mol Genet 2021 May 7. Epub 2021 May 7.

Division of Research and Innovation, Akershus University Hospital, 1478 Lørenskog, Norway.

Circulating cardiac troponin proteins are associated with structural heart disease and predict incident cardiovascular disease in the general population. However, the genetic contribution to cardiac troponin I (cTnI) concentrations and its causal effect on cardiovascular phenotypes is unclear. We combine data from two large population-based studies, the Trøndelag Health Study and the Generation Scotland Scottish Family Health Study and perform a genome-wide association study of high-sensitivity cTnI concentrations with 48 115 individuals. Read More

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Drug survival of anakinra and canakinumab in monogenic autoinflammatory diseases: observational study from the International AIDA Registry.

Rheumatology (Oxford) 2021 May 7. Epub 2021 May 7.

Research Center of Systemic Auto inflammatory Diseases and Behçet's Disease and Rheumatology-Ophthalmology Collaborative Uveitis Center, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena, Italy.

Objectives: To investigate survival of interleukin (IL)-1 inhibitors in monogenic autoinflammatory disorders (mAID) through drug retention rate (DRR) and identify potential predictive factors of drug survival from a real-life perspective.

Patients And Methods: Multicentre retrospective study analyzing patients affected by the most common mAID treated with anakinra or canakinumab. Survival curves were analyzed with the Kaplan-Meier method. Read More

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Pediatric psoriasis induced by HLA-B46-Cw1 haplotype: A retrospective study of psoriasis onset after hematopoietic stem cell transplantation.

J Dermatol 2021 May 7. Epub 2021 May 7.

Department of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.

Genome-wide association studies have identified more than 60 susceptibility loci for psoriasis, highlighting the role of genetics in psoriasis development. Although the HLA region is suggested as the most prominent susceptibility locus, the role of the HLA haplotype in the development of psoriasis is unclear. The aim of this study is to investigate how HLA haplotype changes affect the onset of psoriasis and which HLA haplotypes are associated with the development of psoriasis. Read More

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Neuroimaging genetic associations between , brain structure, and reading skills.

J Clin Exp Neuropsychol 2021 May 7:1-14. Epub 2021 May 7.

Department of Psychology, University of Houston, Houston, TX, USA.

Specific reading disability (SRD) is defined by genetic and neural risk factors that are not fully understood. The current study used imaging genetics methodology to investigate relationships between , brain structure, and reading. , located on SRD risk locus DYX1, is involved in axon guidance, synapse formation, and dendrite development. Read More

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Clozapine Metabolism is Associated With Absolute Neutrophil Count in Individuals With Treatment-Resistant Schizophrenia.

Front Pharmacol 2021 16;12:658734. Epub 2021 Apr 16.

MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, United Kingdom.

Up to one-third of those with schizophrenia fail to respond to standard antipsychotics and are considered to have treatment-resistant schizophrenia, a condition for which clozapine is the only evidence-based medication. While up to 60% of treated individuals obtain therapeutic benefits from clozapine, it is currently underprescribed worldwide, partly because of concerns related to its broad adverse effect profile. In particular, the potential effects of clozapine on the immune system have gained relevance after a recent study showed that drug plasma concentrations were inversely correlated with neutrophil counts in individuals routinely undergoing treatment. Read More

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Genetic Associations with Stable Warfarin Dose Requirements in Han Chinese Patients.

J Cardiovasc Pharmacol 2021 May 4. Epub 2021 May 4.

Shanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai 200030, China Shanghai Institute of Cardiovascular Diseases, Zhongshan Hospital, Fudan University, Shanghai 200032, China Laiwu People's Hospital, Laiwu, Shandong 271100, China Laigang Hospital, Laiwu, Shandong 271126, China Shanghai Baio Technology Co., Ltd. Shanghai 200233, China Fudan University, Shanghai 200032, China The Third Affiliated Hospital, Guangzhou Medical University, Guangzhou 510150, China.

Abstract: Warfarin is a commonly prescribed anticoagulant for valvular heart disease that plays an important role in clinical management to prevent thrombotic events. In this study, we aim to perform a comprehensive study to investigate the genetic biomarkers of stable warfarin dose in the Han Chinese population. We performed an integrative study on 211 Han Chinese patients with valvular heart disease. Read More

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Progesterone promotes immunomodulation and tumor development in the murine mammary gland.

J Immunother Cancer 2021 May;9(5)

Department of Biochemistry and Molecular Biology, University of Kansas Medical Center, Kansas City, Kansas, USA

Background: Clinical studies have linked usage of progestins (synthetic progesterone [P4]) to breast cancer risk. However, little is understood regarding the role of native P4, signaling through the progesterone receptor (PR), in breast tumor formation. Recently, we reported a link between PR and immune signaling pathways, showing that P4/PR can repress type I interferon signaling pathways. Read More

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Association of 45-bp ins/del polymorphism of uncoupling protein 2 (UCP2) and susceptibility to nonalcoholic fatty liver and type 2 diabetes mellitus in North-west of Iran.

BMC Res Notes 2021 May 6;14(1):169. Epub 2021 May 6.

Biotechnology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.

Objective: Uncoupling protein 2 (UCP2) plays a crucial role in energy homeostasis via insulin secretion regulation, free fatty acid concentrations, and lipid metabolism. This study aimed to investigate the association of 45-bp ins/del polymorphism of UCP2 with susceptibility to NAFLD (Non-Alcoholic Fatty Liver Disease) and T2DM (Type 2 Diabetes Mellitus). DNA was extracted from the white blood cells of the subjects, and the gene polymorphism was determined using polymerase chain reaction (PCR). Read More

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Metabolomic profiling of anaerobic and aerobic energy metabolic pathways in chronic obstructive pulmonary disease.

Exp Biol Med (Maywood) 2021 May 6:15353702211008808. Epub 2021 May 6.

State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University, Guangzhou 510120, China.

While there is no cure for chronic obstructive pulmonary disease (COPD), its progressive nature and the formidable challenge to manage its symptoms warrant a more extensive study of the pathogenesis and related mechanisms. A new emphasis on COPD study is the change of energy metabolism. For the first time, this study investigated the anaerobic and aerobic energy metabolic pathways in COPD using the metabolomic approach. Read More

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Use of mouse models to investigate the contributions of CNVs associated with schizophrenia and autism to disease mechanisms.

Steven E Hyman

Curr Opin Genet Dev 2021 May 3;68:99-105. Epub 2021 May 3.

Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, United States. Electronic address:

Human genetics is providing much needed clues to mechanisms underlying neuropsychiatric disorders. Highly penetrant copy number variants (CNVs) were among the first genetic variants confidently associated with schizophrenia and autism spectrum disorders (ASDs). Despite their structural complexity, the high penetrance of CNVs associated with neuropsychiatric disorders suggested utility for construction of cellular and animal models. Read More

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Type 2 diabetes is causally associated with reduced serum osteocalcin: A genome-wide association and Mendelian randomization study.

J Bone Miner Res 2021 May 6. Epub 2021 May 6.

Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, Shanghai, China.

Recent advances indicate that bone and energy metabolism are closely related. However, little direct evidence on causality has been provided in humans. We aimed to assess the association of three bone-related biomarkers 25 hydroxyvitamin D (25OHD), parathyroid hormone (PTH) and osteocalcin (OCN) with several metabolic phenotypes, and investigate any causal relevance to the associations using a Mendelian randomization (MR) study. Read More

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EBV miRNAs are potent effectors of tumor cell transcriptome remodeling in promoting immune escape.

PLoS Pathog 2021 May 6;17(5):e1009217. Epub 2021 May 6.

Department of Pathology, Tulane University School of Medicine, Tulane Cancer Center, New Orleans, Louisiana, United States of America.

The Epstein Barr virus (EBV) contributes to the tumor phenotype through a limited set of primarily non-coding viral RNAs, including 31 mature miRNAs. Here we investigated the impact of EBV miRNAs on remodeling the tumor cell transcriptome. Strikingly, EBV miRNAs displayed exceptionally abundant expression in primary EBV-associated Burkitt's Lymphomas (BLs) and Gastric Carcinomas (GCs). Read More

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Effect of CHRFAM7A Δ2bp gene variant on secondary inflammation after spinal cord injury.

PLoS One 2021 6;16(5):e0251110. Epub 2021 May 6.

School of Systems Biology, George Mason University, Fairfax, Virginia, United States of America.

The α7 neuronal nicotinic acetylcholine receptors (α7nAChRs) are essential for anti-inflammatory responses. The human-specific CHRFAM7A gene and its 2bp deletion polymorphism (Δ2bp variant) encodes a structurally-deficient α7nAChRs that may impact the anti-inflammatory function. We studied 45 spinal cord injury (SCI) patients for up to six weeks post SCI to investigate the role of the Δ2bp variant on multiple circulating inflammatory mediators and two outcome measures (neuropathic pain and risk of pressure ulcers). Read More

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Combination treatment of dendrosomal nanocurcumin and low-level laser therapy develops proliferation and migration of mouse embryonic fibroblasts and alter TGF-β, VEGF, TNF-α and IL-6 expressions involved in wound healing process.

PLoS One 2021 6;16(5):e0247098. Epub 2021 May 6.

Department of Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran.

Introduction: Pressure ulcer (PU) is known as the third most costly disorder usually caused by prolonged pressure and stagnation in various parts of the body. Although several therapeutic approaches are employing, obstacles in appropriate healing for skin lesions still exist which necessitates new practical alternative or adjunctive treatments. Low level laser therapy (LLLT) as one of the mentioned new strategies have gained attention. Read More

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A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer.

Prostate 2021 May 6. Epub 2021 May 6.

Department of Medical Oncology, Dana Farber Cancer Institute, Boston, Massachusetts, USA.

Background: Inflammation and one of its mediators, NF-kappa B (NFκB), have been implicated in prostate cancer carcinogenesis. We assessed whether germline polymorphisms associated with NFκB are associated with the risk of developing lethal disease (metastases or death from prostate cancer).

Methods: Using a Bayesian approach leveraging NFκB biology with integration of publicly available datasets we used a previously defined genome-wide functional association network specific to NFκB and lethal prostate cancer. Read More

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Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.

Cerebellum 2021 May 6. Epub 2021 May 6.

Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, 126. Cidade Universitária "Zeferino Vaz", Campinas, SP, 13083-887, Brazil.

Previous studies using whole exome sequencing (WES) have shown that a significant proportion of adult patients with undiagnosed ataxia in European and North American cohorts have a known genetic cause. Little is known about the diagnostic yield of WES in non-Caucasian ataxic populations. Herein, we used WES to investigate a Brazilian cohort of 76 adult patients with idiopathic ataxia previously screened for trinucleotide expansions in known ataxia genes. Read More

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The Domestic BCO2 Allele Buffers Low-Carotenoid Diets in Chickens: Possible Fitness Increase Through Species Hybridization.

Genetics 2019 Aug;212(4):1445-1452

AVIAN Behavioural Genomics and Physiology Group, IFM Biology, Linköping University, 58183, Sweden.

Domestic animals are adapted to conditions vastly different from those of their wild ancestors, and this is particularly true for their diets. The most numerous of all domestic species, the chicken, originated from the Red Junglefowl (RJF), a native of subtropical forests in Southeast Asia. Surprisingly however, in domestic chicken breeds, a common haplotype of the β-carotene oxygenase 2 (BCO2) gene, which is involved in carotenoid metabolism, is introgressed from a related species, the Gray Junglefowl, and has been under strong selective pressure during domestication. Read More

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Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.

Mol Genet Genomic Med 2021 May 6:e1665. Epub 2021 May 6.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

Background: Currently available structural variant (SV) detection methods do not span the complete spectrum of disease-causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed to investigate clinically-relevant SVs in a 4-year-old male with an epileptic encephalopathy of undiagnosed molecular origin.

Methods: OGM was utilized to image long, megabase-size DNA molecules, fluorescently labeled at specific sequence motifs throughout the genome with high sensitivity for detection of SVs greater than 500 bp in size. Read More

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Gestational high-fat diet impaired demethylation of Pparα and induced obesity of offspring.

J Cell Mol Med 2021 May 6. Epub 2021 May 6.

The Key Laboratory of Reproductive Genetics (Zhejiang University School of Medicine), Ministry of Education, Hangzhou, China.

Gestational and postpartum high-fat diets (HFDs) have been implicated as causes of obesity in offspring in later life. The present study aimed to investigate the effects of gestational and/or postpartum HFD on obesity in offspring. We established a mouse model of HFD exposure that included gestation, lactation and post-weaning periods. Read More

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Further phenotypic features and two novel variants in a patient with SOFT syndrome: A case report.

Mol Med Rep 2021 Jul 6;24(1). Epub 2021 May 6.

Children's Healthcare Institute, Hunan Children's Hospital, University of South China, Changsha, Hunan 410007, P.R. China.

Short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome is a rare autosomal recessive disease caused by POC1 centriolar protein A () pathogenic variants. However, knowledge of genotypic and phenotypic features of SOFT syndrome remain limited as few families have been examined; therefore, the clinical identification of SOFT syndrome remains a challenge. The aim of the present case report was to investigate the genetic cause of this syndrome in a patient with a short stature, unusual facial appearance, skeletal dysplasia and sparse body hair. Read More

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Endogenous p53 expression in human and mouse is not regulated by its 3'UTR.

Elife 2021 May 6;10. Epub 2021 May 6.

Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, United States.

The gene encodes the tumor suppressor p53 which is functionally inactivated in many human cancers. Numerous studies suggested that 3'UTR-mediated p53 expression regulation plays a role in tumorigenesis and could be exploited for therapeutic purposes. However, these studies did not investigate post-transcriptional regulation of the native gene. Read More

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Detection of alternative splicing in western corn rootworm (Diabrotica virgifera virgifera LeConte) in association with eCry3.1Ab resistance using RNA-seq and PacBio Iso-Seq.

Insect Mol Biol 2021 May 5. Epub 2021 May 5.

USDA, Agricultural Research Service, Biological Control of Insects Research Laboratory.

Alternative splicing is a common feature in eukaryotes that not only increases the transcript diversity, but also has have functional consequences. In insects, alternative splicing has been found associated with resistance to pesticides and Bt toxins. Up to date the alternative splicing in western corn rootworm (Diabrotica virgifera virgifera LeConte) has not been studied. Read More

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Upregulation of signal transducer and activator of transcription 3 in dogs with chronic inflammatory enteropathies.

J Vet Intern Med 2021 May 6. Epub 2021 May 6.

Internal Medicine, Clinic for Small Animals, Department for Companion Animals and Horses, University of Veterinary Medicine, Vienna, Austria.

Background: In inflammatory bowel disease (IBD) in humans, phosphorylated signal transducer and activator of transcription 3 (pSTAT3) is upregulated in mucosal epithelial cells and correlates with clinical severity.

Hypothesis/objective: To investigate the expression pattern of pSTAT3 in the mucosa of dogs with chronic inflammatory enteropathy (CIE) and explore correlations between its expression and clinical and histopathological severity scoring.

Animals: Twenty-eight canine CIE patients grouped into food-responsive enteropathy (FRE;  9), steroid-responsive enteropathy (SRE;  10), and protein-losing enteropathy (PLE;  9). Read More

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Identification of mutant K-RAS in pituitary macroadenoma.

Pituitary 2021 May 5. Epub 2021 May 5.

Laboratório de Biomedicina do Cérebro, Instituto Estadual do Cérebro Paulo Niemeyer, Rua do Rezende156-Centro, Rio de Janeiro, 20231-092, Brazil.

Purpose: RAS genes are among the most frequently mutated genes in cancer, where their mutation frequency varies according to the distinct RAS isoforms and tumour types. Despite occurring more prevalent in malignant tumours, RAS mutations were also observed in few benign tumours. Pituitary adenomas are examples of benign tumours which vary in size and aggressiveness. Read More

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Polygenic Scores for Cognitive Abilities and Their Association with Different Aspects of General Intelligence-A Deep Phenotyping Approach.

Mol Neurobiol 2021 May 5. Epub 2021 May 5.

Department of Biopsychology, Institute of Cognitive Neuroscience, Ruhr University Bochum, Bochum, Germany.

Intelligence is a highly polygenic trait and genome-wide association studies (GWAS) have identified thousands of DNA variants contributing with small effects. Polygenic scores (PGS) can aggregate those effects for trait prediction in independent samples. As large-scale light-phenotyping GWAS operationalized intelligence as performance in rather superficial tests, the question arises which intelligence facets are actually captured. Read More

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