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  • 1.
    Andersson, Evelyn
    et al.
    Karolinska Institutet, Sweden;Stockholm Countty Council, Sweden.
    Crowley, James J.
    Karolinska Institutet, Sweden;Univ N Carolina, USA;Univ N Carolina, USA.
    Lindefors, Nils
    Karolinska Institutet, Sweden;Stockholm County Council, Sweden.
    Ljotsson, Brjann
    Karolinska Institutet, Sweden.
    Hedman-Lagerlöf, Erik
    Karolinska Institutet, Sweden.
    Boberg, Julia
    Karolinska Institutet, Sweden;Stockholm County Council, Sweden.
    El Alaoui, Samir
    Karolinska Institutet, Sweden;Stockholm County Council, Sweden.
    Karlsson, Robert
    Karolinska Institutet, Sweden.
    Lu, Yi
    Karolinska Institutet, Sweden.
    Mattheisen, Manuel
    Karolinska Institutet, Sweden;Stockholm County Council, Sweden;Aarhus Univ, Denmark.
    Kahler, Anna K.
    Karolinska Institutet, Sweden.
    Svanborg, Cecilia
    Karolinska Institutet, Sweden;Stockholm County Council, Sweden.
    Mataix-Cols, David
    Karolinska Institutet, Sweden;Stockholm County Council, Sweden.
    Mattsson, Simon
    Karolinska Institutet, Sweden;Stockholm County Council, Sweden.
    Forsell, Erik
    Karolinska Institutet, Sweden;Stockholm County Council, Sweden.
    Kaldo, Viktor
    Linnaeus University, Faculty of Health and Life Sciences, Department of Psychology. Karolinska Institutet, Sweden;Stockholm County Council, Sweden.
    Schalling, Martin
    Karolinska Institutet, Sweden;Karolinska University Hospital, Sweden.
    Lavebratt, Catharina
    Karolinska Institutet, Sweden;Karolinska University Hosp, Sweden.
    Sullivan, Patrick F.
    Univ N Carolina, USA;Karolinska Institutet, Sweden.
    Ruck, Christian
    Karolinska Institutet, Sweden;Stockholm County Council, Sweden.
    Genetics of response to cognitive behavior therapy in adults with major depression: a preliminary report2019In: Molecular Psychiatry, ISSN 1359-4184, E-ISSN 1476-5578, Vol. 24, no 4, p. 484-490Article in journal (Refereed)
    Abstract [en]

    Major depressive disorder is heritable and a leading cause of disability. Cognitive behavior therapy is an effective treatment for major depression. By quantifying genetic risk scores based on common genetic variants, the aim of this report was to explore the utility of psychiatric and cognitive trait genetic risk scores, for predicting the response of 894 adults with major depressive disorder to cognitive behavior therapy. The participants were recruited in a psychiatric setting, and the primary outcome score was measured using the Montgomery Asberg Depression Rating Scale-Self Rated. Single-nucleotide polymorphism genotyping arrays were used to calculate the genomic risk scores based on large genetic studies of six phenotypes: major depressive disorder, bipolar disorder, attention-deficit/hyperactivity disorder, autism spectrum disorder, intelligence, and educational attainment. Linear mixed-effect models were used to test the relationships between the six genetic risk scores and cognitive behavior therapy outcome. Our analyses yielded one significant interaction effect (B = 0.09, p < 0.001): the autism spectrum disorder genetic risk score correlated with Montgomery Asberg Depression Rating Scale-Self Rated changes during treatment, and the higher the autism spectrum disorder genetic load, the less the depressive symptoms decreased over time. The genetic risk scores for the other psychiatric and cognitive traits were not related to depressive symptom severity or change over time. Our preliminary results indicated, as expected, that the genomics of the response of patients with major depression to cognitive behavior therapy were complex and that future efforts should aim to maximize sample size and limit subject heterogeneity in order to gain a better understanding of the use of genetic risk factors to predict treatment outcome.

  • 2.
    Drugge, Ulf
    University of Kalmar, School of Human Sciences.
    Ärftlig sjukdom i historiska arkiv: några tolkningsmöjligheter1996In: Arv och anor / [ed] Kerstin Abukhanfusa, Stockholm: Riksarkivet, 1996, 1, p. 150-168Chapter in book (Other academic)
  • 3.
    Einarsdottir, Elisabet
    et al.
    Karolinska Inst.
    Svensson, Idor
    Linnaeus University, Faculty of Health and Life Sciences, Department of Psychology.
    Darki, Fahimeh
    Karolinska Inst.
    Peyrard-Janvid, Myriam
    Karolinska Inst.
    Lindvall, Jessica M.
    Karolinska Inst ; Stockholm Univ.
    Ameur, Adam
    Uppsala Univ.
    Jacobson, Christer
    Linnaeus University, Faculty of Social Sciences, Department of pedagogy.
    Klingberg, Torkel
    Karolinska Inst.
    Kere, Juha
    Karolinska Inst ; Stockholm Univ ; Univ Helsinki, Finland ; Folkhälsan Inst Genet, Finland.
    Matsson, Hans
    Karolinska Inst.
    Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family2015In: Human Genetics, ISSN 0340-6717, E-ISSN 1432-1203, Vol. 134, no 11-12, p. 1239-1248Article in journal (Refereed)
    Abstract [en]

    Developmental dyslexia is the most common learning disorder in children. Problems in reading and writing are likely due to a complex interaction of genetic and environmental factors, resulting in reduced power of studies of the genetic factors underlying developmental dyslexia. Our approach in the current study was to perform exome sequencing of affected and unaffected individuals within an extended pedigree with a familial form of developmental dyslexia. We identified a two-base mutation, causing a p.R229L amino acid substitution in the centrosomal protein 63 kDa (CEP63), co-segregating with developmental dyslexia in this pedigree. This mutation is novel, and predicted to be highly damaging for the function of the protein. 3D modelling suggested a distinct conformational change caused by the mutation. CEP63 is localised to the centrosome in eukaryotic cells and is required for maintaining normal centriole duplication and control of cell cycle progression. We found that a common polymorphism in the CEP63 gene had a significant association with brain white matter volume. The brain regions were partly overlapping with the previously reported region influenced by polymorphisms in the dyslexia susceptibility genes DYX1C1 and KIAA0319. We hypothesise that CEP63 is particularly important for brain development and might control the proliferation and migration of cells when those two events need to be highly coordinated.

  • 4.
    Jensen, Rebecca
    Linnaeus University, Faculty of Health and Life Sciences, Department of Chemistry and Biomedical Sciences.
    Mutationer i genen för SMO som orsakar basalcellscancer och resistens mot SMO-hämmaren vismodegib2017Independent thesis Basic level (degree of Bachelor), 10 credits / 15 HE creditsStudent thesis
    Abstract [en]

    Basal cell carcinoma (BCC) is the most common type of skin cancer in Sweden, with about 37 000 new diagnoses every year. The most commonly affected individuals are those with very light skin and bright eyes, as well as blonde or red hair. The primary external risk factor is the exposure to UV-light. BCC is developed in basal cells in the deepest layer of the epidermis and can further be divided into several subtypes. The cancer is slowly growing and rarely metastasizes, although it can be very destructive in local tissue if not treated. It has been identified that a defect hedgehog signalling pathway (Hh) plays an important role in the development of BCC. This pathway is normally active during embryonal development and in adults involved in, for instance, cell proliferation and tissue regeneration. Abnormal activation of Hh leads to intensive cell signalling, resulting in a too large number of transcription factors generating transcription of target genes and protein synthesis, causing tumorigenesis. In BCC, mutations in the receptor protein Smoothened (SMO) are associated with approximately 10% of the abnormal cell signalling. SMO has a characteristic similarity to the G-protein coupled receptors, and is a target for the relatively new (approved 2012 by the FDA) SMO inhibitor Vismodegib, which is a drug developed for treating advanced and metastasizing BCC. Although the drug has only been in use for a few years, unfortunately resistance against it has already been reported in a number of patients treated. Mutations in the gene for the protein SMO have been linked to the occurrence of this resistance. In this paper, the mutations in the gene for SMO associated with BCC were investigated, followed by an examination of the mutations causing Vismodegib resistance and their occurrence. A multiple sequence analysis was also made on proteins homologous to SMO to determine if these resistance mutations were novel to SMO. The results showed that 42 mutations were associated with BCC and 18 mutations associated with Vismodegib resistance. Out of these mutations (42 and 18 respectively) 14 were common, indicating that Vismodegib likely will not have effect in some cases of BCC, where the cause is SMO-mutations. The occurrence of pre-resistance mutations, in supposedly healthy individuals not exposed to Vismodegib, was found only of three mutations; W281C: with frequency of p=1/120 000, D373N: p=1/20 000, D473H: p=1/48 (of note, due to the small sample size it is likely that this estimation was too high). The multiple sequence analysis showed five resistance mutations (D473Y, D473H, G497W, S533N and W535R) in SMO not having equivalence in structurally similar proteins (245 analysed). This could potentially imply that these mutations are novel for SMO. Four out of these five resistance mutations also occur in the association with BCC, which could mean that these are driver mutations for the cancer. One (D473Y) out of these five was associated only with Vismodegib resistance, potentially being unique in this matter. The relatively high risk of having initial or requiring resistance mutations against Vismodegib raises questions regarding its future, as well as its effect in relation to its very high cost (44 892,08 SEK). Perhaps genetic analysis is a potential tool before starting treatment, to investigate if a patient already carries a resistance mutation. Also, focusing on development of substances against other components in Hh might be the way to go, although Vismodegib most likely has a substantial value in treatment of non-mutated patients in combination with surgical removal of a BCC tumour.

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