Institution
Stockholm County Council
Government•Stockholm, Sweden•
About: Stockholm County Council is a government organization based out in Stockholm, Sweden. It is known for research contribution in the topics: Population & Poison control. The organization has 1410 authors who have published 2429 publications receiving 78936 citations.
Topics: Population, Poison control, Health care, Autism, Cohort study
Papers published on a yearly basis
Papers
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TL;DR: The data suggest that SUDEP is a seizure-related event, although the pathophysiological substrate that predisposes individuals to SUDEP may be established at an early age, and there may be some sex differences.
479 citations
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TL;DR: A significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental-related genes such as EXT1, ASTN2, MACROD2, and HDAC4 is identified and identified.
Abstract: Background: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the
understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried
by the true risk variants and the corresponding statistical power to observe such effects given the study design and
sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however,
these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) <1.15).
Methods: We conducted a large-scale coordinated international collaboration to combine independent genotyping
data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide
genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary
statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls).
Results: We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription
factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social
skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia
which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P=9 ×10−6). We further
combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to
identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12
novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a
‘neurodevelopmental hub’ on chromosome 8p11.23.
Conclusions: This study is an important step in the ongoing endeavour to identify the loci which underpin the common
variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia
and association of ASD with several neurodevelopmental-related genes such as EXT1, ASTN2, MACROD2, and HDAC4.
458 citations
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TL;DR: A new pattern of interactions is described between the two major known genetic risk factors and the major environmental risk factor concerning the risk of developing anti-CCP-positive RA, extending the basis for a pathogenetic hypothesis for RA involving genetic and environmental factors.
Abstract: Gene-gene and gene-environment interactions are key features in the development of rheumatoid arthritis (RA) and other complex diseases. The aim of this study was to use and compare three different definitions of interaction between the two major genetic risk factors of RA—the HLA-DRB1 shared epitope (SE) alleles and the PTPN22 R620W allele—in three large case-control studies: the Swedish Epidemiological Investigation of Rheumatoid Arthritis (EIRA) study, the North American RA Consortium (NARAC) study, and the Dutch Leiden Early Arthritis Clinic study (in total, 1,977 cases and 2,405 controls). The EIRA study was also used to analyze interactions between smoking and the two genes. “Interaction” was defined either as a departure from additivity, as interaction in a multiplicative model, or in terms of linkage disequilibrium—for example, deviation from independence of penetrance of two unlinked loci. Consistent interaction, defined as departure from additivity, between HLA-DRB1 SE alleles and the A allele of PTPN22 R620W was seen in all three studies regarding anti-CCP–positive RA. Testing for multiplicative interactions demonstrated an interaction between the two genes only when the three studies were pooled. The linkage disequilibrium approach indicated a gene-gene interaction in EIRA and NARAC, as well as in the pooled analysis. No interaction was seen between smoking and PTPN22 R620W. A new pattern of interactions is described between the two major known genetic risk factors and the major environmental risk factor concerning the risk of developing anti-CCP–positive RA. The data extend the basis for a pathogenetic hypothesis for RA involving genetic and environmental factors. The study also raises and illustrates principal questions concerning ways to define interactions in complex diseases.
458 citations
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University of Geneva1, University of Gothenburg2, Sahlgrenska University Hospital3, Istituto Universitario Di Studi Superiori Di Pavia4, VU University Amsterdam5, Stockholm County Council6, University Hospital of Lausanne7, University of Zurich8, Lund University9, University of Manchester10, Mayo Clinic11, University of Genoa12, European Association of Nuclear Medicine13, Karolinska University Hospital14, Alzheimer's Association15, University of Amsterdam16, Vita-Salute San Raffaele University17, Queen Mary University of London18, Beta19, University of Bern20, University of Brescia21, Geneva College22, University of Malta23, Alzheimer Europe24, University College London25, Stanford University26, German Center for Neurodegenerative Diseases27, University of Rostock28, Imperial College London29, Maastricht University30, St. Jude Children's Research Hospital31, Karolinska Institutet32
TL;DR: A strategic five-phase roadmap to foster the clinical validation of biomarkers in Alzheimer's disease, adapted from the approach for cancer biomarkers is developed.
Abstract: The diagnosis of Alzheimer's disease can be improved by the use of biological measures. Biomarkers of functional impairment, neuronal loss, and protein deposition that can be assessed by neuroimaging (ie, MRI and PET) or CSF analysis are increasingly being used to diagnose Alzheimer's disease in research studies and specialist clinical settings. However, the validation of the clinical usefulness of these biomarkers is incomplete, and that is hampering reimbursement for these tests by health insurance providers, their widespread clinical implementation, and improvements in quality of health care. We have developed a strategic five-phase roadmap to foster the clinical validation of biomarkers in Alzheimer's disease, adapted from the approach for cancer biomarkers. Sufficient evidence of analytical validity (phase 1 of a structured framework adapted from oncology) is available for all biomarkers, but their clinical validity (phases 2 and 3) and clinical utility (phases 4 and 5) are incomplete. To complete these phases, research priorities include the standardisation of the readout of these assays and thresholds for normality, the evaluation of their performance in detecting early disease, the development of diagnostic algorithms comprising combinations of biomarkers, and the development of clinical guidelines for the use of biomarkers in qualified memory clinics.
446 citations
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TL;DR: Global suicide rates among adolescents in the 15-19 age group, according to the latest World Health Organization (WHO) Mortality Database, were examined and a rising trend of suicide in young males was observed.
438 citations
Authors
Showing all 1415 results
Name | H-index | Papers | Citations |
---|---|---|---|
Lars Klareskog | 131 | 697 | 63281 |
Christopher A. Walsh | 123 | 455 | 55874 |
Jan K. Buitelaar | 123 | 1004 | 61880 |
Gerhard Andersson | 118 | 902 | 49159 |
Lars Alfredsson | 112 | 607 | 51151 |
Sarah E. Medland | 106 | 462 | 46888 |
Tomas Olsson | 105 | 677 | 39905 |
René E. M. Toes | 101 | 454 | 39812 |
Göran Pershagen | 98 | 432 | 33214 |
Juha Kere | 97 | 642 | 38403 |
Agneta Nordberg | 93 | 513 | 39763 |
Lars Farde | 90 | 446 | 28122 |
G. David Batty | 88 | 451 | 23826 |
Christer Halldin | 87 | 713 | 32079 |
Anders Ahlbom | 87 | 359 | 27369 |