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Sökning: WFRF:(Mcgrath Patrick)

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  • Föregående 1[2]3Nästa
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  • Mullins, Niamh, et al. (författare)
  • GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores
  • 2019
  • Ingår i: American Journal of Psychiatry. - : American Psychiatric Publishing. - 0002-953X .- 1535-7228. ; 176:8, s. 651-660
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective: More than 90% of people who attempt suicide have a psychiatric diagnosis; however, twin and family studies suggest that the genetic etiology of suicide attempt is partially distinct from that of the psychiatric disorders themselves. The authors present the largest genome-wide association study (GWAS) on suicide attempt, using cohorts of individuals with major depressive disorder, bipolar disorder, and schizophrenia from the Psychiatric Genomics Consortium.Methods: The samples comprised 1,622 suicide attempters and 8,786 nonattempters with major depressive disorder; 3,264 attempters and 5,500 nonattempters with bipolar disorder; and 1,683 attempters and 2,946 nonattempters with schizophrenia. A GWAS on suicide attempt was performed by comparing attempters to nonattempters with each disorder, followed by a meta-analysis across disorders. Polygenic risk scoring was used to investigate the genetic relationship between suicide attempt and the psychiatric disorders.Results: Three genome-wide significant loci for suicide attempt were found: one associated with suicide attempt in major depressive disorder, one associated with suicide attempt in bipolar disorder, and one in the meta-analysis of suicide attempt in mood disorders. These associations were not replicated in independent mood disorder cohorts from the UK Biobank and iPSYCH. No significant associations were found in the meta-analysis of all three disorders. Polygenic risk scores for major depression were significantly associated with suicide attempt in major depressive disorder (R2=0.25%), bipolar disorder (R2=0.24%), and schizophrenia (R2=0.40%).Conclusions: This study provides new information on genetic associations and demonstrates that genetic liability for major depression increases risk for suicide attempt across psychiatric disorders. Further collaborative efforts to increase sample size may help to robustly identify genetic associations and provide biological insights into the etiology of suicide attempt.
  • Tidskriftsartikel (refereegranskat)
  • Tidskriftsartikel (refereegranskat)
  • Anney, Richard, et al. (författare)
  • A genome-wide scan for common alleles affecting risk for autism.
  • 2010
  • Ingår i: Human Molecular Genetics. - 0964-6906. ; 19:20, s. 4072-4082
  • Tidskriftsartikel (refereegranskat)abstract
    • Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
  • Casey, Jillian P, et al. (författare)
  • A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
  • 2012
  • Ingår i: Human Genetics. - 0340-6717. ; 131:4, s. 565-579
  • Tidskriftsartikel (refereegranskat)abstract
    • Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
  • Chng, Kern Rei (författare)
  • Cartography of opportunistic pathogens and antibiotic resistance genes in a tertiary hospital environment
  • 2020
  • Ingår i: Nature Medicine. - 1078-8956 .- 1546-170X.
  • Tidskriftsartikel (refereegranskat)abstract
    • Although disinfection is key to infection control, the colonization patterns and resistomes of hospital-environment microbes remain underexplored. We report the first extensive genomic characterization of microbiomes, pathogens and antibiotic resistance cassettes in a tertiary-care hospital, from repeated sampling (up to 1.5 years apart) of 179 sites associated with 45 beds. Deep shotgun metagenomics unveiled distinct ecological niches of microbes and antibiotic resistance genes characterized by biofilm-forming and human-microbiome-influenced environments with corresponding patterns of spatiotemporal divergence. Quasi-metagenomics with nanopore sequencing provided thousands of high-contiguity genomes, phage and plasmid sequences (>60% novel), enabling characterization of resistome and mobilome diversity and dynamic architectures in hospital environments. Phylogenetics identified multidrug-resistant strains as being widely distributed and stably colonizing across sites. Comparisons with clinical isolates indicated that such microbes can persist in hospitals for extended periods (>8 years), to opportunistically infect patients. These findings highlight the importance of characterizing antibiotic resistance reservoirs in hospitals and establish the feasibility of systematic surveys to target resources for preventing infections. Spatiotemporal characterization of microbial diversity and antibiotic resistance in a tertiary-care hospital reveals broad distribution and persistence of antibiotic-resistant organisms that could cause opportunistic infections in a healthcare setting.
  • Friedrich, Felix W., et al. (författare)
  • Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy
  • 2012
  • Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 21:14, s. 3237-3254
  • Tidskriftsartikel (refereegranskat)abstract
    • Hypertrophic cardiomyopathy (HCM) is characterized by asymmetric left ventricular hypertrophy, diastolic dysfunction and myocardial disarray. HCM is caused by mutations in sarcomeric genes, but in 40 of patients, the mutation is not yet identified. We hypothesized that FHL1, encoding four-and-a-half-LIM domains 1, could be another disease gene since it has been shown to cause distinct myopathies, sometimes associated with cardiomyopathy. We evaluated 121 HCM patients, devoid of a mutation in known disease genes. We identified three novel variants in FHL1 (c.134delA/K45Sfs, c.459CA/C153X and c.827GC/C276S). Whereas the c.459CA variant was associated with muscle weakness in some patients, the c.134delA and c.827GC variants were associated with isolated HCM. Gene transfer of the latter variants in C2C12 myoblasts and cardiac myocytes revealed reduced levels of FHL1 mutant proteins, which could be rescued by proteasome inhibition. Contractility measurements after adeno-associated virus transduction in rat-engineered heart tissue (EHT) showed: (i) higher and lower forces of contraction with K45Sfs and C276S, respectively, and (ii) prolonged contraction and relaxation with both mutants. All mutants except one activated the fetal hypertrophic gene program in EHT. In conclusion, this study provides evidence for FHL1 to be a novel gene for isolated HCM. These data, together with previous findings of proteasome impairment in HCM, suggest that FHL1 mutant proteins may act as poison peptides, leading to hypertrophy, diastolic dysfunction and/or altered contractility, all features of HCM.
  • Kristjánsdóttir, Ólöf, et al. (författare)
  • A systematic review of cross-cultural comparison studies of child, parent, and health professional outcomes associated with pediatric medical procedures
  • 2012
  • Ingår i: Journal of Pain. - : Elsevier. - 1526-5900. ; 13:3, s. 207-219
  • Forskningsöversikt (refereegranskat)abstract
    • The purpose of this review was to evaluate systematically all published and unpublished research concerning culture and medical procedural pain in children. Databases, reference lists, and electronic list servers were searched as data sources. Fifteen studies met the inclusion criteria. Most studies (80%) were conducted solely in the United States comparing Caucasian American groups to other local subculture(s) (ie, African American, Hispanic, or Japanese). The studies compared, cross culturally, pediatric pain-related outcomes in children, parents and/or health professionals. The medical procedural experiences included surgery, immunization, spinal tap, bone marrow aspiration, needle procedures, orthopedic, and wound-related injuries. The evidence published to date suggests that cultural factors may be associated with children's pain experiences when elicited by medical procedural pain, specifically children's pain behavior. Nevertheless, research using more sophisticated research methods is needed to develop culturally sensitive behavioral pain measures. Measures that include physiological pain parameters in addition to other behavioral outcomes may be helpful. Culturally comparative research would benefit from the use of theoretical frameworks to advance our understanding of the cultural underpinnings of child pain development and guide future research.PERSPECTIVE:The current evidence supports that children and parents belonging to cultural minority groups, and in need of health care, are a vulnerable population. Together, researchers and clinicians are encouraged to explore this understudied area, and take advantage of sophisticated methods developed by disciplines like cross-cultural psychology.
  • Kristjansdottir, Olof, et al. (författare)
  • Cultural influences on parental responses to children's pain
  • 2018
  • Ingår i: Pain. - : Elsevier. - 0304-3959. ; 159:10, s. 2035-2049
  • Tidskriftsartikel (refereegranskat)abstract
    • There is a scarcity of work examining the relationship between culture and pain-related caregiver behaviors. Moreover, no pediatric pain studies have examined the relationship between caregiver cultural values and pain-related caregiver behaviors nor discern if this process is mediated by caregiver parenting styles and moderated by ecosocial context. Based on cross-cultural developmental theories, this study hypothesized that ecosocial context would moderate the relationship between cultural values, parenting styles, and pain-related caregiver behaviors; and that parenting styles mediate the effect of cultural values on pain-related caregiver behaviors. A cross-cultural survey design was employed using a convenience sample of 547 caregivers of 6 to 12 year olds living in Canada (n 5 183), Iceland (n 5 184), and Thailand (n 5 180). Multigroup structural equation modeling showed that ecosocial context did not affect which cultural model of parenting the caregiver adopted. Parenting styles mediated the relationship between cultural values and pain-related caregiver behavior. Vertical/horizontal individualism, collectivism, and authoritative-and authoritarian-parenting styles positively predicted solicitousness. Vertical individualism and authoritarian-parenting style positively predicted discouraging behavior, whereas other predictors did not. The findings support the sociocommunication model of children's pain by showing that cultural context does affect parents' behaviors. They also corroborate with others' claims of solicitousness universality in a pediatric pain context. However, solicitousness may have different cultural meanings among individuals and may be used in conjunction with discouraging behavior. The findings from this study have implications for the theory development about culture and pediatric pain, but do not provide specific clinical recommendations.
  • Kristjánsdóttir, Ólöf, et al. (författare)
  • Does culture influence pain-related parent behaviors?
  • Ingår i: Canadian Journal of Pain. - : Taylor & Francis. - 2474-0527. ; 2:1, s. 146-146
  • Konferensbidrag (refereegranskat)abstract
    • Introduction/Aim: Studies suggest that cultural models of parenting (CMP) influence parental behaviors. Predominant cultural values are believed to inform the parenting styles caregivers adopt. Cultural values were expected to affect parental behaviors indirectly through parenting styles. We believed this would be moderated by ecosocial context. The present study aimed to examine cultural influences on pain-related parent-behaviors (PRPB). We hypothesized that ecosocial context would moderate the relationship between cultural values, parenting styles, and PRPB; and parenting styles would mediate the effect of cultural values on PRPB. Methods: A cross-cultural survey design was employed using a convenience sample of 547 caregivers of 6–12-year-olds living in Canada (n = 183), Iceland (n = 184), and Thailand (n = 180). The individualism-collectivism scale measured verticaland horizontal individualism, and collectivism. The parenting styles and dimensions questionnaire measured authoritative, and authoritarian parenting styles. The inventory of parent/caregiver responses to the children’s pain experience scale measured solicitousness and discouraging.Results: Multigroup structural equation modeling, showed that country did not affect which CMP caregivers adopted. Parenting styles mediated the relationship between cultural values and PRPB. Vertical/horizontal individualism, collectivism, and authoritative and authoritarian-parenting styles positively predicted solicitousness. Vertical individualism and authoritarian-parenting style positively predicted discouraging, whereas other predictors did not. Discussion/Conclusions: Unexpectedly, ecosocial context did not influence which CMP caregivers adopt, including their PRPB. As expected, parenting styles were mediators. Results supports others’ claims of solicitousness universality in a pediatric pain context. However, solicitousness may have different cultural meanings among individuals, and may be used in conjunction with discouraging.
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