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  • Davies, G., et al. (författare)
  • Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
  • 2018
  • Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723 .- 2041-1723. ; 9:1
  • Tidskriftsartikel (refereegranskat)abstract
    • General cognitive function is a prominent and relatively stable human trait that is associated with many important life outcomes. We combine cognitive and genetic data from the CHARGE and COGENT consortia, and UK Biobank (total N = 300,486; age 16-102) and find 148 genome-wide significant independent loci (P < 5 × 10-8) associated with general cognitive function. Within the novel genetic loci are variants associated with neurodegenerative and neurodevelopmental disorders, physical and psychiatric illnesses, and brain structure. Gene-based analyses find 709 genes associated with general cognitive function. Expression levels across the cortex are associated with general cognitive function. Using polygenic scores, up to 4.3% of variance in general cognitive function is predicted in independent samples. We detect significant genetic overlap between general cognitive function, reaction time, and many health variables including eyesight, hypertension, and longevity. In conclusion we identify novel genetic loci and pathways contributing to the heritability of general cognitive function.
  • Tidskriftsartikel (refereegranskat)
  • Kanter-Smoler, Gunilla, et al. (författare)
  • Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization
  • 2006
  • Ingår i: Clin Gastroenterol Hepatol. - 1542-3565. ; 4:4, s. 499-506
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND & AIMS: Biallelic mutations in the base-excision repair gene MYH have recently been associated with recessive inheritance of multiple colorectal adenomas. An investigation and characterization of MYH mutations in Swedish patients were therefore carried out. METHODS: A set of 15 unrelated adenomatous polyposis coli (APC)-mutation negative patients from the Swedish Polyposis Registry was screened for germline mutations in the MYH gene. The patients were clinically characterized and compared with 43 APC-mutation positive probands diagnosed during the same period. RESULTS: Disease-causing biallelic MYH mutations were identified in 6 patients (40%). The mean age at diagnosis was 47.8 years versus 34.1 years in APC-mutation positive patients (P = .015). Colorectal cancer at diagnosis of polyposis was present in 67% (4/6) of the patients, and all were right-sided, compared with only 19% versus 12.5% right-sided cancer in APC-mutation positive patients. Upper gastrointestinal manifestations were diagnosed in 1 of 5 compared with 23 of 27 in APC-mutation positive patients (odds ratio, 23; 95% confidence interval, 2-263; P = .0086). One family exhibited apparent dominant inheritance of colorectal adenomatous polyposis. Two new pathogenic mutations, MYH p.G175E and p.P391L, were identified. The mutations are argued to introduce profound changes in substrate-recognizing domains of the protein. CONCLUSIONS: Biallelic MYH mutations, including 2 novel mutations, were found in a substantial number of the patients with multiple colorectal adenomas who were negative for APC-mutation. The examined MYH-mutation positive patients were found to have higher risks of colorectal cancer at diagnosis, right-sided location of cancers, and a significantly lower incidence of upper gastrointestinal manifestations, compared with APC-mutation positive patients.
  • Liu, Y.-J., et al. (författare)
  • Photodissociation of Bromobenzene, Dibromobenzene, and 1,3,5-Tribromobenzene
  • 2004
  • Ingår i: Journal of Chemical Physics. - : American Institute of Physics (AIP). - 0021-9606 .- 1089-7690. ; 120:14, s. 6502-6509
  • Tidskriftsartikel (refereegranskat)abstract
    • Quantum chemical calculations have been performed on the ground state and several low-lying excited states of bromobenzene, ortho-, meta-, and para-dibromobenzene, and 1,3,5-tribromobenzene using high-level ab initio and hybrid density-functional methods. Experimental observations of ultrafast predissociation in these molecules are clarified from extensive theoretical information about all low-energy potential-energy curves together with symmetry arguments. The intriguing observation that o- and m-dibromobenzene have two ultrafast predissociation channels while bromobenzene, p-dibromobenzene, and 1,3,5-tribromobenzene only have one such channel is explained from the calculated potential-energy curves. These show that the lowering of point-group symmetry from C2v to Cs along the main photodissociation reaction coordinate, which only occurs in o- and m-dibromobenzene, opens up a new predissociation channel. Dynamical quantum simulations based on the calculated potential-energy curves are used to estimate the coupling strength at the intersystem crossing point in bromobenzene. ©2004 American Institute of Physics.
  • Gawel, Danuta R., et al. (författare)
  • A validated single-cell-based strategy to identify diagnostic and therapeutic targets in complex diseases
  • 2019
  • Ingår i: Genome Medicine. - : BioMed Central. - 1756-994X. ; 11
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Genomic medicine has paved the way for identifying biomarkers and therapeutically actionable targets for complex diseases, but is complicated by the involvement of thousands of variably expressed genes across multiple cell types. Single-cell RNA-sequencing study (scRNA-seq) allows the characterization of such complex changes in whole organs. Methods: The study is based on applying network tools to organize and analyze scRNA-seq data from a mouse model of arthritis and human rheumatoid arthritis, in order to find diagnostic biomarkers and therapeutic targets. Diagnostic validation studies were performed using expression profiling data and potential protein biomarkers from prospective clinical studies of 13 diseases. A candidate drug was examined by a treatment study of a mouse model of arthritis, using phenotypic, immunohistochemical, and cellular analyses as read-outs. Results: We performed the first systematic analysis of pathways, potential biomarkers, and drug targets in scRNA-seq data from a complex disease, starting with inflamed joints and lymph nodes from a mouse model of arthritis. We found the involvement of hundreds of pathways, biomarkers, and drug targets that differed greatly between cell types. Analyses of scRNA-seq and GWAS data from human rheumatoid arthritis (RA) supported a similar dispersion of pathogenic mechanisms in different cell types. Thus, systems-level approaches to prioritize biomarkers and drugs are needed. Here, we present a prioritization strategy that is based on constructing network models of disease-associated cell types and interactions using scRNA-seq data from our mouse model of arthritis, as well as human RA, which we term multicellular disease models (MCDMs). We find that the network centrality of MCDM cell types correlates with the enrichment of genes harboring genetic variants associated with RA and thus could potentially be used to prioritize cell types and genes for diagnostics and therapeutics. We validated this hypothesis in a large-scale study of patients with 13 different autoimmune, allergic, infectious, malignant, endocrine, metabolic, and cardiovascular diseases, as well as a therapeutic study of the mouse arthritis model. Conclusions: Overall, our results support that our strategy has the potential to help prioritize diagnostic and therapeutic targets in human disease.
  • Okbay, Aysu, et al. (författare)
  • Genome-wide association study identifies 74 loci associated with educational attainment
  • 2016
  • Ingår i: ; 533:7604, s. 539-542
  • Tidskriftsartikel (refereegranskat)abstract
    • Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals(1). Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample(1,2) of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
  • Schölin, Anna, et al. (författare)
  • Islet antibodies and remaining beta-cell function 8 years after diagnosis of diabetes in young adults : a prospective follow-up of the nationwide Diabetes Incidence Study in Sweden
  • 2004
  • Ingår i: Journal of Internal Medicine. - : Wiley-Blackwell Publishing Ltd. - 0954-6820 .- 1365-2796. ; 255:3, s. 384-391
  • Tidskriftsartikel (övrigt vetenskapligt)abstract
    • ObjectivesTo establish the prevalence of remaining β-cell function 8 years after diagnosis of diabetes in young adults and relate the findings to islet antibodies at diagnosis and 8 years later.DesignPopulation-based cohort study.SettingNationwide from all Departments of Medicine and Endocrinology in Sweden.SubjectsA total of 312 young (15–34 years old) adults diagnosed with diabetes during 1987–88.Main outcome measurePlasma connecting peptide (C-peptide) 8 years after diagnosis. Preserved β-cell function was defined as measurable C-peptide levels. Three islet antibodies – cytoplasmic islet cell antibodies (ICA), glutamic acid decarboxylase antibodies and tyrosine phosphatase antibodies – were measured.ResultsAmongst 269 islet antibody positives (ab+) at diagnosis, preserved β-cell function was found in 16% (42/269) 8 years later and these patients had a higher body mass index (median 22.7 and 20.5 kg m−2, respectively; P = 0.0003), an increased frequency of one islet antibody (50 and 24%, respectively; P = 0.001), and a lower prevalence of ICA (55 and 6%, respectively; P = 0.007) at diagnosis compared with ab+ without remaining β-cell function. Amongst the 241 patients without detectable β-cell function at follow-up, 14 lacked islet antibodies, both at diagnosis and at follow-up.ConclusionsSixteen per cent of patients with autoimmune type 1 diabetes had remaining β-cell function 8 years after diagnosis whereas 5.8% with β-cell failure lacked islet autoimmunity, both at diagnosis and at follow-up.
  • Abraham-Nordling, Mirna, et al. (författare)
  • Incidence of Hyperthyroidism in Sweden.
  • 2011
  • Ingår i: European journal of endocrinology. - : Society of the European Journal of Endocrinology. - 1479-683X .- 0804-4643. ; 165, s. 899-905
  • Tidskriftsartikel (refereegranskat)abstract
    • AbstractIntroduction: The incidence of hyperthyroidism has been reported in various countries to be 23 - 93/100 000 inhabitants/year. This extended study has evaluated the incidence for approximately 40% of the Swedish population of 9 million inhabitants. Sweden is considered iodine sufficient.Methods: All patients including children, who were newly diagnosed with overt hyperthyroidism in the years 2003-2005, were prospectively registered in a multicenter study. Inclusion criteria: clinical symptoms and/or signs of hyperthyroidism with plasma TSH concentration below < 0.2 mIE/l, increased plasma levels of free/total T3 and/or free/total T4. Patients with relapse of hyperthyroidism or thyroiditis were not included. The diagnosis Graves' disease (GD), toxic multinodular goiter (TMNG) and solitary toxic adenoma (STA), smoking, initial treatment, occurrence of thyroid associated eye symptoms/-signs and demographic data were registered.Results: 2916 patients were diagnosed with de novo hyperthyroidism giving the total incidence of 27.6 / 100000 inhabitants/year. The incidence of GD was 21.0/100000 and toxic nodular goiter (TNG=STA + TMNG) occurred in 692 patients, corresponding to an annual incidence of 6.5 /100 000. The incidence was higher in women compared to men (4.2:1). 75% of the patients were diagnosed as GD, in whom thyroid associated eye symptoms/-signs occurred at diagnosis in every fifth patient. Geographical differences were observed. Conclusion: The incidence of hyperthyroidism in Sweden is in a lower range compared to international reports. Patients with hyperthyroidism had GD in 75% and 20% of them had thyroid associated eye symptoms/-signs at diagnosis. The observed geographical differences require further studies.
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