44,762 results match your criteria study gwas


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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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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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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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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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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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

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

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

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

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

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Similar Genetic Architecture of Alzheimer's Disease and Differential Effect Between Sexes.

Front Aging Neurosci 2021 28;13:674318. Epub 2021 May 28.

Department of Radiology, Center for Multimodal Imaging and Genetics, University of California, San Diego, San Diego, CA, United States.

Sex differences have been observed in the clinical manifestations of Alzheimer's disease (AD) and elucidating their genetic basis is an active research topic. Based on autosomal genotype data of 7,216 men and 10,680 women, including 8,136 AD cases and 9,760 controls, we explored sex-related genetic heterogeneity in AD by investigating SNP heritability, genetic correlation, as well as SNP- and gene-based genome-wide analyses. We found similar SNP heritability (men: 19. Read More

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Genetic variations in medical research in the past, at present and in the future.

Proc Jpn Acad Ser B Phys Biol Sci 2021 ;97(6):324-335

Cancer Precision Medicine Center, Japanese Foundation for Cancer Research.

As we look so different, our genomic sequences vary enormously. The differences in our genome, genetic variations, have played very significant roles in medical research and have contributed to improvement of medical managements in the last 2-3 decades. Genetic variations include germline variations, somatic mutations, and diversities in receptor genes of rearranged immune cells, T cells and B cells. Read More

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January 2021

Leveraging breeding programs and genomic data in Norway spruce (Picea abies L. Karst) for GWAS analysis.

Genome Biol 2021 Jun 13;22(1):179. Epub 2021 Jun 13.

Umeå Plant Science Centre, Department Forest Genetics and Plant Physiology, Swedish University of Agricultural Sciences, SE-90183, Umeå, Sweden.

Background: Genome-wide association studies (GWAS) identify loci underlying the variation of complex traits. One of the main limitations of GWAS is the availability of reliable phenotypic data, particularly for long-lived tree species. Although an extensive amount of phenotypic data already exists in breeding programs, accounting for its high heterogeneity is a great challenge. Read More

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Novel insights into genome-wide associations in reveal genetic linkages between fertility and growth.

Anim Biotechnol 2021 Jun 13:1-17. Epub 2021 Jun 13.

Lala Lajpat Rai University of Veterinary and Animal Sciences, Hisar, Haryana, India.

breed Sahiwal, famous for its optimum performance, has so far been genetically improved for performance traits based on phenotypic records and the genomic knowhow regarding genes, regions and biological processes underlying the complex quantitative traits is lacking. In this context, a Genome-wide Association Study was performed for fertility and growth traits in Sahiwal cattle to shed light on its genomic profile. A total of 46 SNPs were found associated with the traits at genome-wide suggestive threshold of  ≤ 10. Read More

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Potential causal effect of posttraumatic stress disorder (PTSD) on alcohol use disorder and alcohol consumption in individuals of European descent: A Mendelian Randomization Study.

Alcohol Clin Exp Res 2021 Jun 12. Epub 2021 Jun 12.

Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University.

Background: Posttraumatic Stress Disorder (PTSD) often co-occurs with increased alcohol consumption (AC) and alcohol use disorder (AUD), however it is unknown whether the same etiologic influences underlying PTSD-AUD comorbidity are those underlying PTSD and AC.

Methods: This study used large-scale genome wide association study (GWAS) data to test if PTSD and drinks per week [DPW]/AUD are causally related to one another, and if so, if PTSD precedes DPW/AUD and/or vice versa, using Mendelian Randomization on European ancestry GWAS summary statistics from the Psychiatric Genomics Consortia (PGC; PTSD), GWAS & Sequencing Consortium of Alcohol and Nicotine Use (GSCAN; DPW), and Million Veteran Program (MVP; AUD).

Results: PTSD exerted a potentially causal effect on AUD (beta= 0. Read More

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A genome-wide association study of plasma phosphorylated tau181.

Neurobiol Aging 2021 May 4. Epub 2021 May 4.

Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. Electronic address:

Plasma phosphorylated tau at threonine-181 (P-tau181) demonstrates promise as an accessible blood-based biomarker specific to Alzheimer's Disease (AD), with levels recently demonstrating high predictive accuracy for AD-relevant pathology. The genetic underpinnings of P-tau181 levels, however, remain elusive. This study presents the first genome-wide association study of plasma P-tau181 in a total sample of 1153 participants from 2 independent cohorts. Read More

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Clinical and Genetic Findings in 28 American Cocker Spaniels with Aural Ceruminous Gland Hyperplasia and Ectasia.

J Comp Pathol 2021 May 22;185:30-44. Epub 2021 Apr 22.

Department of Equine and Small Animal Medicine, Finland.

American Cocker Spaniels (ACSs) develop aural ceruminous gland hyperplasia and ectasia more often than dogs of other breeds. Data on the cause and development of these breed characteristic histopathological changes are lacking. We performed video-otoscopic examinations and dermatological work-up on 28 ACSs, obtained aural biopsies from each dog and assessed the statistical associations between the presence of ceruminous gland hyperplasia and ectasia and disease history, clinical or microbiological findings and underlying cause of otitis externa (OE). Read More

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Genome-wide DNA methylation patterns associated with general psychopathology in children.

J Psychiatr Res 2021 May 28;140:214-220. Epub 2021 May 28.

Department of Child and Adolescent Psychiatry/ Psychology, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands; Department of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands; Molecular Epidemiology, Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, the Netherlands.

Psychiatric symptoms are interrelated and found to be largely captured by a general psychopathology factor (GPF). Although epigenetic mechanisms, such as DNA methylation (DNAm), have been linked to individual psychiatric outcomes, associations with GPF remain unclear. Using data from 440 children aged 10 years participating in the Generation R Study, we examined the associations of DNAm with both general and specific (internalizing, externalizing) factors of psychopathology. Read More

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Maternal smoking during pregnancy and risks to depression and anxiety in offspring: An observational study and genome-wide gene-environment interaction analysis in UK biobank cohort.

J Psychiatr Res 2021 May 27;140:149-158. Epub 2021 May 27.

Key Laboratory of Trace Elements and Endemic Diseases, National Health and Family Planning Commission, School of Public Health, Health Science Center, Xi'an Jiaotong University, Xi'an, China. Electronic address:

Background: Maternal smoking during pregnancy (MSDP) has been reported to be associated with increased anxiety and depression behaviors in offspring. However, there is still scant evidence to support the link between MSDP and anxiety/depression.

Methods: Using the subjects from the UK Biobank cohort (n = 371,903-432,881). Read More

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Type 2 diabetes is associated with the MTNR1B gene, a genetic bridge between circadian rhythm and glucose metabolism, in a Turkish population.

Mol Biol Rep 2021 Jun 11. Epub 2021 Jun 11.

Department of Endocrinology and Metabolic Diseases, Faculty of Cerrahpasa Medicine, Istanbul University, Istanbul, Turkey.

Type 2 diabetes (T2D) is a complicated public health problem in Turkey as well as worldwide. Genome-wide approaches have been guiding in very challenging situations, such as the elucidation of genetic variations underlying complex diseases such as T2D. Despite intensive studies worldwide, few studies have determined the genetic susceptibility to T2D in Turkish populations. Read More

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Genome-wide DNA methylation analysis on C-reactive protein among Ghanaians suggests molecular links to the emerging risk of cardiovascular diseases.

NPJ Genom Med 2021 Jun 11;6(1):46. Epub 2021 Jun 11.

Department of Public Health, Amsterdam Public Health Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.

Molecular mechanisms at the intersection of inflammation and cardiovascular diseases (CVD) among Africans are still unknown. We performed an epigenome-wide association study to identify loci associated with serum C-reactive protein (marker of inflammation) among Ghanaians and further assessed whether differentially methylated positions (DMPs) were linked to CVD in previous reports, or to estimated CVD risk in the same population. We used the Illumina Infinium® HumanMethylation450 BeadChip to obtain DNAm profiles of blood samples in 589 Ghanaians from the RODAM study (without acute infections, not taking anti-inflammatory medications, CRP levels < 40 mg/L). Read More

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Eight novel susceptibility loci and putative causal variants in atopic dermatitis.

J Allergy Clin Immunol 2021 Jun 2. Epub 2021 Jun 2.

Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan; Clinical Research Center, Shizuoka General Hospital, Shizuoka, Japan; Department of Applied Genetics, School of Pharmaceutical Sciences, University of Shizuoka, Shizuoka, Japan. Electronic address:

Background: Atopic dermatitis (AD) is the most common allergic disease in the world. While genetic components play critical roles in its pathophysiology, a large proportion of its genetic background is still unexplored.

Objectives: This study sought to illuminate the genetic associations with AD using genome-wide association study (GWAS) and its downstream analyses. Read More

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Association of mammographic density with blood DNA methylation.

Epigenetics 2021 Jun 11:1-16. Epub 2021 Jun 11.

Department of Epidemiology, University of California, Irvine, USA.

Altered DNA methylation may be an intermediate phenotype between breast cancer risk factors and disease. Mammographic density is a strong risk factor for breast cancer. However, no studies to date have identified an epigenetic signature of mammographic density. Read More

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Identification of novel pleiotropic gene for bone mineral density and lean mass using the cFDR method.

Ann Hum Genet 2021 Jun 11. Epub 2021 Jun 11.

Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, Hunan, China.

Bone mineral density (BMD) and whole-body lean mass (WBLM) are two important phenotypes of osteoporosis and sarcopenia. Previous studies have shown that BMD and lean mass were phenotypically and genetically correlated. To identify the novel common genetic factors shared between BMD and WBLM, we performed the conditional false discovery rate (cFDR) analysis using summary data of the genome-wide association study of femoral neck BMD (n = 53,236) and WBLM (n = 38,292) from the Genetic Factors for Osteoporosis Consortium (GEFOS). Read More

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Genetic risk factors for autism-spectrum disorders: a systematic review based on systematic reviews and meta-analysis.

J Neural Transm (Vienna) 2021 Jun 11;128(6):717-734. Epub 2021 Jun 11.

Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, 230032, China.

Background: Based on recent evidence, more than 200 susceptibility genes have been identified to be associated with autism until now. Correspondingly, cytogenetic abnormalities have been reported for almost every chromosome. While the results of multiple genes associated with risk factors for autism are still incomplete, this paper systematically reviews published meta-analyses and systematic reviews of evidence related to autism occurrence. Read More

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Epigenetic mechanisms involved in the neuroprotective effect of scorpion extract in a Parkinson's disease murine model based on multi-omics approach.

J Tradit Chin Med 2021 Jun;41(3):390-396

Future Medicine Division, Korea Institute of Oriental Medicine, Daejeon 34054, Republic of Korea.

Objective: To investigate whether scorpion extract elicits a neuroprotective effect in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-treated mice models, and the genes associated with the therapeutic effects using RNA sequencing (seq) analysis.

Methods: This study investigated the changes in interaction between messenger ribonucleic acid (mRNA) expression and deoxyribonucleic acid (DNA) methylation related to the protective effects of scorpion extracts, in the substantia nigra (SN) region of a MPTP-induced Parkinson's disease (PD) model.

Results: In this model, scorpion extracts attenuated the motor impairment as demonstrated by the rotarod and open field tests. Read More

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Identification of Resistance Sources and Genome-Wide Association Mapping of Septoria Tritici Blotch Resistance in Spring Bread Wheat Germplasm of ICARDA.

Front Plant Sci 2021 25;12:600176. Epub 2021 May 25.

Biodiversity and Crop Improvement Program, International Center for Agricultural Research in the Dry Areas, Rabat, Morocco.

Septoria tritici blotch (STB) of wheat, caused by the ascomycete (formerly ), is one of the most important foliar diseases of wheat. In Morocco, STB is a devastating disease in temperate wheat-growing regions, and the yield losses can exceed up to 50% under favorable conditions. The aims of this study were to identify sources of resistance to STB in Septoria Association Mapping Panel (SAMP), which is composed of 377 advanced breeding lines (ABLs) from spring bread wheat breeding program of ICARDA, and to identify loci associated with resistance to STB at seedling (SRT) as well as at the adult plant (APS) stages using genome-wide association mapping (GWAM). Read More

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