Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits | PLOS Genetics
Our analysis not only identified new genetic associations, but also showed that our novel way of doing research-collecting self ... Our examination of 22 different common traits in nearly 10,000 participants revealed associations among several single- ... Additionally our analysis verified the association of a large number of previously identified genes with variation in hair ... Author Summary Twin studies have shown that many human physical characteristics, such as hair curl, earlobe shape, and ...
Mendelian randomization analysis of plasma levels of CD209 and MICB proteins and the risk of varicose veins of lower...
For MICB and CD209, we used data from a large-scale genome-wide association study (GWAS) for plasma protein levels (N = 3,301 ... In future studies, independent validation of our results using data from more powerful GWASs for CD209 measured by different ... The data used in the study were obtained in individuals of European descent. The results for MICB did not pass criteria for ... proteins reported in a previous hypothesis-free MR study. We conducted MR analysis using a fixed effects inverse-variance ...
Loss of Mitogen-Activated Protein Kinase Kinase Kinase 4 (MAP3K4) Reveals a Requirement for MAPK Signalling in Mouse Sex...
Finally, our study suggests that forward genetic screens in the mouse should be considered as another important tool for ... Only one region, on proximal mouse Chromosome 17, showed this feature of genetic association with byg. This initial linkage was ... On the mixed genetic background used for the forward genetic screen, the boygirl XY gonadal phenotypes observed at 13.5/14.5 ... Genetic mapping placed byg on the proximal region of mouse Chromosome 17 and molecular studies revealed that the byg phenotype ...
Associations of maternal quitting, reducing, and continuing smoking during pregnancy with longitudinal fetal growth: Findings...
Judith Brand and colleagues analyse associations between maternal smoking and fetal growth ... Davey Smith G, Hemani G. Mendelian randomization: genetic anchors for causal inference in epidemiological studies. Hum Mol ... The apparent positive association of the genetic instrument with fetal growth in non-smokers suggests that genetic pleiotropy ... A predominant association of maternal smoking with FL has been reported before by other studies including GenR [20,33-35] and ...
The aetiological relationship between depressive symptoms and health-related quality of life: A population-based twin study in...
Conclusions Our study confirmed previous findings of a negative association between depressive symptoms and HRQL. However, some ... alongside small genetic influences (ranging from 0 to 23%) and shared environmental influences (ranging from 0 to 28%). Genetic ... Method Data for 3,948 participants came from the Colombo Twin and Singleton Follow-up Study (CoTaSS-2). Using self-report ... For traits related to emotional functioning, we also detected substantial overlapping genetic influences with depressive ...
Association between Traffic-Related Air Pollution in Schools and Cognitive Development in Primary School Children: A...
Jordi Sunyer and colleagues examine the association between traffic-related air pollution and 12 month cognitive development ... Previous studies on the effects of polluted air at schools were a study in two schools in Quanzhou (China) on attention ... This resembles what has been observed with other hazards for neurodevelopment such as genetic effects [41], presumably because ... In contrast, the association at baseline was smaller (1.9%). Part of this larger association during primary school may be a ...
Identifying causative mechanisms linking early-life stress to psycho-cardio-metabolic multi-morbidity: The EarlyCause project |...
The study will research in detail how ELS converts into biological signals embedded simultaneously or sequentially in the brain ... The project takes advantage of human longitudinal birth cohort data, animal studies and cellular models to test the hypothesis ... Methods and analysis This paper describes the study protocol for EarlyCause, a large-scale and inter-disciplinary research ... These diseases may share environmental and genetic determinants associated with multimorbid patterns. Stressful early-life ...
Inter-Individual Variability in the Adaptive Responses to Endurance and Sprint Interval Training: A Randomized Crossover Study ...
... following a randomized crossover study design with a three-month washout period between training interventions. While a main ... The current study examined the adaptive response to both endurance (END) and sprint interval training (SIT) in a group of ... recent evidence has found associations between several genetic markers and individual training responses [34,45,46], however, ... These data highlight the effective implementation of our randomized cross-over study design [29]. In summary, the current study ...
No Serological Evidence of Influenza A H1N1pdm09 Virus Infection as a Contributing Factor in Childhood Narcolepsy after...
... is strongly associated with a genetic marker, human leukocyte antigen (HLA) DQB1*06:02. A sudden increase in the incidence of ... The strongest genetic risk factor for narcolepsy is associated with a specific HLA class II gene [9], [10]. More than 90% of ... In the present study, all our patients were positive for the HLA DQB1*06:02 allele showing a very strong correlation of ... Seasonality of the onset and association of the disease with upper respiratory tract infections, including H1N1 [11] and/or ...
Integrating molecular QTL data into genome-wide genetic association analysis: Probabilistic assessment of enrichment and...
However, the roles of such studies in disease etiology remain poorly understood, primarily because a large proportion of the ... Our proposed approach fully accounts for the intrinsic uncertainty embedded in the association analyses of GWAS and molecular ... which are genetic variants that directly affect molecular phenotypes (e.g., gene expression, transcription factor binding and ... have been tremendously successful in identifying genetic variants that impact complex diseases. ...
Shared genetic loci between depression and cardiometabolic traits | PLOS Genetics
It is unknown if shared genetic factors contribute to these associations. We applied novel statistical tools for polygenic ... We found extensive genetic overlap. Depression shared 68% of genetic variants with body mass index and 14% and with systolic ... Further analyses identified shared genetic variants found in metabolism of alpha-linolenic pathway for type 2 diabetes. ... to quantify genome-wide overlap and to identify shared genetic variants. ...
Childhood cancer risk in those with chromosomal and non-chromosomal congenital anomalies in Washington State: 1984-2013 | PLOS...
... similar data from many regions would increase power to identify specific associations in order to inform molecular studies ... Less is known about associations with presence of non-chromosomal anomalies. Methods Records of children diagnosed with cancer ... genetic and environmental) for both conditions may elucidate potential mechanisms to modify cancer risk. Future assessments ... Few studies have been able to examine associations of specific non-chromosomal anomalies with specific cancer types, but of ...
Gene action, genetic variation, and GWAS: A user-friendly web tool | PLOS Genetics
... to show how the combination of gene action and allele frequencies at causal loci translate to genetic variance and genetic ... a number of persistent misconceptions related to nonadditive genetic effects remain. We developed a user-friendly web tool, the ... Fishers partitioning of genotypic values and genetic variance is highly relevant in the current era of genome-wide association ... studies (GWASs). However, despite being more than a century old, ...
Why and when was lactase persistence selected for? Insights from Central Asian herders and ancient DNA | PLOS Biology
The genetic adaptation of humans to the consumption of animal milk is a textbook example of gene-culture coevolution. Taking ... only one phenotypic study has been performed (on 30 individuals), showing a LP prevalence of 30% [53], and the genetic basis ... Abbreviations: BP, before present; GLAD, Global Lactase persistence Association Database; LBK, Linearbandkeramik; LP, lactase ... For the modern map, purple points correspond to genetic data from our laboratory [11,16,57]; green points represent genetic ...
Four Loci Explain 83% of Size Variation in the Horse | PLOS ONE
In support of this, here we show with genome-wide association scans (GWAS) that genetic variation at just four loci can explain ... The genetic basis for this variation is not known. We hypothesize that the breed population structure of the horse should ... Unlike humans, which are naturally reproducing and possess many genetic variants with weak effects on size, we show that horses ...
A large population-based association study between HLA and KIR genotypes and measles vaccine antibody responses | PLOS ONE
To expand on and improve our previous work with HLA genes, and to explore the genetic contribution of KIR genes to the inter- ... no statistically significant associations were found for either HLA or KIR loci. However, suggestive associations worthy of ... alleles were suggestive of an association with higher measles antibodies. Notably, the associations with KIR genotypes were ... Specifically, the B*57:01 allele (1,040 mIU/mL; p = 0.0002) was suggestive of an association with lower measles antibody titer ...
Personality dimensions of patients can change during the course of parkinson's disease | PLOS ONE
These links mainly came from biological and genetic studies [11-18]. Nonetheless, these classical assumptions are not as ... This objective was part of a bigger study of which the first part evaluated the association between personality dimensions and ... It comes from the cohort of a multicentric study. This study is an ancillary analysis using data collected from the PREDISTIM ... After removing all meta-analyses or reviews and retaining only studies using the full TCI, nine studies of historical PD ...
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2 | PLOS Genetics
... paper has been to develop an international resource to generate an informed and current understanding of the impact of genetic ... Author summary The goal of this study and ... Over decades of study and sequencing at-risk individuals for ... with the Association for Molecular Pathology (AMP) [26] proposed schemes for classification of variants as pathogenic or ... Genetic causes of cancer Is the Subject Area "Genetic causes of cancer" applicable to this article? Yes. No. ...
COMT and MAO-A Polymorphisms and Obsessive-Compulsive Disorder: A Family-Based Association Study | PLOS ONE
More recently, Taylor (2013) in a comprehensive meta-analysis of genetic association studies has identified COMT and MAO-A ... In an effort to clarify the role of these two genes in OCD vulnerability, a family-based association investigation was ... The catechol-O-methyltransferase (COMT) and monoamine oxidase A (MAO-A) genes have been investigated in previous OCD studies, ... results from this study cannot exclude the contribution of these genes in the manifestation of OCD. The evaluation of broader ...
Identification and Localization of the Cyclic Nucleotide Phosphodiesterase 10A in Bovine Testis and Mature Spermatozoa | PLOS...
The objective of this study was to identify the PDE10A isoforms expressed in the testis and germ cells, and to determine the ... PDE10, which is more effective on cAMP than cGMP, has been known for almost 15 years and is mostly studied in the brain where ... PDE10A has been mostly studied in the brain as it is associated with diseases such as the neurodegenerative genetic ... which normally promotes membrane association [56]. In the present study, from the deduced amino acid sequences of the X2 and X4 ...
Stigma as a fundamental hindrance to the United States opioid overdose crisis response | PLOS Medicine
Medication for opioid use disorder after nonfatal opioid overdose and association with mortality: a cohort study. Ann Intern ... Schnittker J. An uncertain revolution: why the rise of a genetic model of mental illness has not increased tolerance. Soc Sci ... Postsurgical prescriptions for opioid naive patients and association with overdose and misuse: retrospective cohort study. BMJ ... Association of American Medical Colleges. How academic medicine is addressing the opioid epidemic. Washington (DC): Association ...
Identification and Dissection of Four Major QTL Affecting Milk Fat Content in the German Holstein-Friesian Population | PLOS ONE
... a genome-wide association study (GWAS) was performed. The study population consisted of 2327 progeny-tested bulls. Genotypes ... Our results provide evidence that alteration of regulatory sites is an important aspect of genetic variation of complex traits ... Milk composition traits exhibit a complex genetic architecture with a small number of major quantitative trait loci (QTL) ... Genotypes for five of them were inferred for the entire study population. Two polymorphisms affecting potential transcription ...
The Rsb Phosphoregulatory Network Controls Availability of the Primary Sigma Factor in Chlamydia trachomatis and Influences the...
Genetic transplantation: Salmonella enterica serovar Typhimurium as a host to study sigma factor and anti-sigma factor ... Fig 2. Association of RsbW-Ct with antagonist depends on ATP and the phosphorylation state of the antagonist. ... Previous studies have revealed that all potential module members are expressed [12,15] and that RsbWCt is a kinase specific for ... One of the best studied is the Regulator of SigmaB or Rsb system in Bacillus subtilis. Within this type of module, a ...
Anxiety and depression among caregivers of pediatric patients with tic disorder in western China: A cross-sectional study |...
Longitudinal studies need to be conducted to further confirm the causality before interventions to improve mental health are ... Results A total of 318 participants were included in this study, with a response rate of 89.58% (318/355). The average age of ... Methods A cross-sectional study was carried out on caregivers of pediatric patients with TD at a womens and childrens ... The purpose of this study was to investigate the prevalence and potential contributing factors of anxiety and depression among ...
HIV-1 Polymerase Inhibition by Nucleoside Analogs: Cellular- and Kinetic Parameters of Efficacy, Susceptibility and Resistance...
In this study, we aim to mathematically formulate a model of polymerase inhibition by , by integrating available enzymatic ... Differences in efficacy were often brought in association with intracellular NA-TP∶dNTP ratios [48], [49]. Utilizing the ... An extended analysis of the resistance pathways in the case where particularly large genetic barriers are involved may in the ... Along the same lines, epistasis has been used to study interactions of mutations in the absence of drugs [22] and for ...
Using Genotyping-By-Sequencing (GBS) for Genomic Discovery in Cultivated Oat | PLOS ONE
... we estimated that a minimum density of one marker per 2 to 2.8 cM would be required for genome-wide association studies (GWAS ... thus establishing a positional reference for further genomic studies. Using the diversity lines, ... which will have many additional applications in oat breeding and genomic studies. ... seven bi-parental mapping populations and diverse inbred lines from breeding programs around the world were studied. We ...
Accelerometer measured physical activity and the incidence of cardiovascular disease: Evidence from the UK Biobank cohort study...
They more reliably measure PA status and thus could improve understanding of associations with CVD. What did the researchers do ... There is an inverse association between self-reported physical activity (PA) and occurrence of cardiovascular disease (CVD). ... However, there is uncertainty about the strength of this association as self-reported questionnaires are subject to ... Affiliation International Agency for Research on Cancer, Genetic Epidemiology Group, Lyon, France ...
Semantic prioritization of novel causative genomic variants | PLOS Computational Biology
In a retrospective study, we apply PVP to the interpretation of whole exome sequencing data in patients suffering from ... we utilize two overlapping sets of gene-phenotype associations; we include gene-phenotype associations observed in zebrafish ... In a retrospective study, we further illustrate the application of PVP for the interpretation of whole exome sequencing data in ... Quang D, Chen Y, Xie X. DANN: a deep learning approach for annotating the pathogenicity of genetic variants. Bioinformatics. ...
The Association of Health Literacy with Illness and Medication Beliefs among Patients with Chronic Obstructive Pulmonary...
In this study we sought to determine the association, if any, of health literacy and health beliefs among elderly individuals ... though the association of low health literacy with belief in the necessity of medications was no longer significant (OR: 0.92, ... the association of low health literacy with expressed concern about medications remained significant (OR: 1.20, 95% CI: 1.05- ... Cause refers to personal ideas about illness etiology, for example, that COPD is due to smoking, stress, lifestyle, genetic ...
Optimising Homing Endonuclease Gene Drive Performance in a Semi-Refractory Species: The Drosophila melanogaster Experience |...
... this study demonstrates how a few simple measures can lead to substantial improvements in the HEG-based gene drive strategy and ... Our previous studies showed that HEG drive was more difficult to achieve in Drosophila melanogaster than Anopheles gambiae and ... Genetic evidence indicates that bgcn is functional in the germline stem cell and during spermatogonial stages of ... however this association has since been excluded and the location of Rcd-1r, within 3′UTR region of the overlapping gene ...