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Sökning: WFRF:(Jonsson Lina)

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  • [1]234567...8Nästa
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1.
  • Jonsson, Lina, et al. (författare)
  • Rare and Common Variants Conferring Risk of Tooth Agenesis
  • 2018
  • Ingår i: Journal of Dental Research. - 0022-0345. ; 97:5, s. 515-522
  • Tidskriftsartikel (refereegranskat)abstract
    • We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously identified risk variants, for timing of tooth eruption and orofacial clefts, with TA. We report associations between TA and 9 novel risk variants. Five of these variants associate with selective TA, including a variant conferring risk of orofacial clefts. These results contribute to a deeper understanding of the genetic architecture of tooth development and disease. The few variants previously associated with TA were uncovered through candidate gene studies guided by mouse knockouts. Knowing the etiology and clinical features of TA is important for planning oral rehabilitation that often involves an interdisciplinary approach.
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2.
  • Gudmundsson, O. O., et al. (författare)
  • Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder
  • 2019
  • Ingår i: Translational Psychiatry. - 2158-3188. ; 9
  • Tidskriftsartikel (refereegranskat)abstract
    • Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable common childhood-onset neurodevelopmental disorder. Some rare copy number variations (CNVs) affect multiple neurodevelopmental disorders such as intellectual disability, autism spectrum disorders (ASD), schizophrenia and ADHD. The aim of this study is to determine to what extent ADHD shares high risk CNV alleles with schizophrenia and ASD. We compiled 19 neuropsychiatric CNVs and test 14, with sufficient power, for association with ADHD in Icelandic and Norwegian samples. Eight associate with ADHD; deletions at 2p16.3 (NRXN1), 15q11.2, 15q13.3 (BP4 & BP4.5–BP5) and 22q11.21, and duplications at 1q21.1 distal, 16p11.2 proximal, 16p13.11 and 22q11.21. Six of the CNVs have not been associated with ADHD before. As a group, the 19 CNVs associate with ADHD (OR = 2.43, P = 1.6 × 10−21), even when comorbid ASD and schizophrenia are excluded from the sample. These results highlight the pleiotropic effect of the neuropsychiatric CNVs and add evidence for ADHD, ASD and schizophrenia being related neurodevelopmental disorders rather than distinct entities.
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3.
  • Henningsson, Susanne, et al. (författare)
  • Possible association between the androgen receptor gene and autism spectrum disorder.
  • 2009
  • Ingår i: Psychoneuroendocrinology. - 0306-4530. ; 34:5, s. 752-761
  • Tidskriftsartikel (refereegranskat)abstract
    • Autism is a highly heritable disorder but the specific genes involved remain largely unknown. The higher prevalence of autism in men than in women, in conjunction with a number of other observations, has led to the suggestion that prenatal brain exposure to androgens may be of importance for the development of this condition. Prompted by this hypothesis, we investigated the potential influence of variation in the androgen receptor (AR) gene on the susceptibility for autism. To this end, 267 subjects with autism spectrum disorder and 617 controls were genotyped for three polymorphisms in exon I of the AR gene: the CAG repeat, the GGN repeat and the rs6152 SNP. In addition, parents and affected siblings were genotyped for 118 and 32 of the cases, respectively. Case-control comparisons revealed higher prevalence of short CAG alleles as well as of the A allele of the rs6152 SNP in female cases than in controls, but revealed no significant differences with respect to the GGN repeat. Analysis of the 118 families using transmission disequilibrium test, on the other hand, suggested an association with the GGN polymorphism, the rare 20-repeat allele being undertransmitted to male cases and the 23-repeat allele being overtransmitted to female cases. Sequencing of the AR gene in 46 patients revealed no mutations or rare variants. The results tend some support for an influence of the studied polymorphisms on the susceptibility for autism, but argue against the possibility that mutations in the AR gene are common in subjects with this condition. (C) 2008 Elsevier Ltd. All rights reserved.
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4.
  • Hovey, Daniel, et al. (författare)
  • Antisocial behavior and polymorphisms in the oxytocin receptor gene: findings in two independent samples.
  • 2016
  • Ingår i: Molecular psychiatry. - 1476-5578. ; 16
  • Tidskriftsartikel (refereegranskat)abstract
    • Importance: The quantitative genetic contribution to antisocial behavior is well established, but few, if any, genetic variants are established as risk factors. Emerging evidence suggests that the neuropeptide oxytocin may modulate interpersonal aggression. Objective: To investigate whether single nucleotide polymorphisms in the oxytocin receptor gene are associated with the expression of antisocial behavior. Design, setting, and participants: A discovery sample, including both sexes, was drawn from the Child and Adolescent Twin Study of Sweden (CATSS; n=2,372), and a sample from the Twin Study of Child and Adolescent Development (TCHAD; n=1,232) was used for replication. The participants were assessed for antisocial behavior, measured as continuous traits. Eight single nucleotide polymorphisms in the oxytocin receptor gene, selected on previous associations with social and antisocial behavior, were then genotyped in the participants of CATSS. Significant polymorphisms were subsequently genotyped in TCHAD for replication. Main outcomes and measures: Participants completed self-assessment questionnaires – Life History of Aggression (available only in CATSS), and Self-Reported Delinquency (available in both samples) – designed to capture antisocial behavior. Results: In the discovery sample, the rs7632287 AA genotype was associated with higher frequency of antisocial behavior in boys, and this was then replicated in the second sample. In particular, overt aggression (directly targeting another individual) was strongly associated with this genotype in boys (p=6.2x10-7 in the discovery sample). Meta-analysis of the results for antisocial behavior from both samples yielded p=2.5x10-5. Furthermore, an association between rs4564970 and Life History of Aggression (p=0.00013) survived correction in the discovery sample, but there was no association with the Self-Reported Delinquency in the replication sample. Conclusions and relevance: We conclude that the rs7632287 and rs4564970 polymorphisms in the oxytocin receptor gene may independently influence antisocial behavior in adolescent boys. Further replication of our results will be crucial to understanding how aberrant social behavior arises, and supports the oxytocin receptor as one potential target in the treatment of aggressive antisocial behavior.
5.
  • Johansson, Daniel, et al. (författare)
  • Associations between oxytocin-related genes and autistic-like traits.
  • 2014
  • Ingår i: Social Neuroscience. - 1747-0919 .- 1747-0927. ; 9:4, s. 378-386
  • Tidskriftsartikel (refereegranskat)abstract
    • Oxytocin has repeatedly been shown to influence human behavior in social contexts; also, a relationship between oxytocin and the pathophysiology of autism spectrum disorder (ASD) has been suggested. In the present study, we investigated single-nucleotide polymorphisms (SNPs) in the oxytocin gene (OXT) and the genes for single-minded 1 (SIM1), aryl hydrocarbon receptor nuclear translocator 2 (ARNT2) and cluster of differentiation 38 (CD38) in a population of 1771 children from the Child and Adolescent Twin Study in Sweden (CATSS). Statistical analyses were performed to investigate any association between SNPs and autistic-like traits (ALTs), measured through ASD scores in the Autism-Tics, ADHD and other Co-morbidities inventory. Firstly, we found a statistically significant association between the SIM1 SNP rs3734354 (Pro352Thr) and scores for language impairment (p = .0004), but due to low statistical power this should be interpreted cautiously. Furthermore, nominal associations were found between ASD scores and SNPs in OXT, ARNT2 and CD38. In summary, the present study lends support to the hypothesis that oxytocin and oxytocin neuron development may have an influence on the development of ALTs and suggests a new candidate gene in the search for the pathophysiology of ASD.
6.
  • Jonsson, Lina, et al. (författare)
  • Association between asmt and autistic-like traits in children from a swedish nationwide cohort.
  • 2014
  • Ingår i: Psychiatric Genetics. - 0955-8829 .- 1473-5873. ; 24:1, s. 21-27
  • Tidskriftsartikel (refereegranskat)abstract
    • Persons with autism spectrum disorders (ASDs) often display low levels of melatonin, and it has been suggested that this decrease may be due to low activity of the acetylserotonin O-methyltransferase (ASMT), the last enzyme in the melatonin synthesis pathway. Moreover, genetic variants in ASMT have been associated with autism, as well as with low ASMT activity and melatonin levels, suggesting that the low ASMT activity observed in autism may partly be due to variation within the ASMT gene. In this study, we present a symptom-based approach to investigate possible associations between ASMT and autistic-like traits (ALTs) in the general population. To this end, continuous measures of ALTs were assessed in a nationally representative twin cohort (n=1771) from Sweden and six Single Nucleotide Polymorphisms (SNP) and a duplication of exon 2 to 8 in ASMT were genotyped. Our results show a nominally significant association, in girls, between one SNP (rs5949028) in the last intron of ASMT and social interaction impairments. No significant association, however, was observed with traits related to language impairment or restricted and repetitive behavior. In conclusion, our results support the possible involvement of the ASMT gene in ASDs and our finding that only one of three traits shows association suggests that genetic research may benefit from taking a symptom-specific approach to identify genes involved in autism psychopathology.
7.
  • Jonsson, Lina, et al. (författare)
  • Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10.
  • 2014
  • Ingår i: Molecular autism. - 2040-2392. ; 5:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Autistic-like traits (ALTs) are continuously distributed in the general population, with the autism spectrum disorder (ASD) at the upper extreme end. A genetic overlap has been shown between ALTs and ASD, indicating that common variation in ASD candidate genes may also influence ALTs. In our study, we have investigated the SNP rs4307059 that has been associated with both ALTs and ASD. In addition, we genotyped polymorphisms in a selection of genes involved in synaptic functioning, that is, SHANK3, RELN, and CNTNAP2, which repeatedly have been associated with ASD. The possible associations of these polymorphisms with ALTs, as well as genetic factors for neurodevelopmental problems (NDPs), were investigated in a large cohort from the general population: The Child and Adolescent Twin Study in Sweden. For analyses of ALTs and NDPs, 12,319 subjects (including 2,268 monozygotic (MZ) and 3,805 dizygotic (DZ) twin pairs) and 8,671 subjects (including 2,243 MZ and 2,044 DZ twin pairs), respectively, were included in the analyses.
8.
  • Jonsson, Lina, et al. (författare)
  • Mutation screening of melatonin-related genes in patients with autism spectrum disorders.
  • 2010
  • Ingår i: BMC medical genomics. - 1755-8794. ; 3
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: One consistent finding in autism spectrum disorders (ASD) is a decreased level of the pineal gland hormone melatonin and it has recently been demonstrated that this decrease to a large extent is due to low activity of the acetylserotonin O-methyltransferase (ASMT), the last enzyme in the melatonin synthesis pathway. Moreover, mutations in the ASMT gene have been identified, including a splice site mutation, that were associated with low ASMT activity and melatonin secretion, suggesting that the low ASMT activity observed in autism is, at least partly, due to variation within the ASMT gene. METHODS: In the present study, we have investigated all the genes involved in the melatonin pathway by mutation screening of AA-NAT (arylalkylamine N-acetyltransferase), ASMT, MTNR1A, MTNR1B (melatonin receptor 1A and 1B) and GPR50 (G protein-coupled receptor 50), encoding both synthesis enzymes and the three main receptors of melatonin, in 109 patients with autism spectrum disorders (ASD). A cohort of 188 subjects from the general population was used as a comparison group and was genotyped for the variants identified in the patient sample. RESULTS: Several rare variants were identified in patients with ASD, including the previously reported splice site mutation in ASMT (IVS5+2T>C). Of the variants affecting protein sequence, only the V124I in the MTNR1B gene was absent in our comparison group. However, mutations were found in upstream regulatory regions in three of the genes investigated, ASMT, MTNR1A, and MTNR1B. CONCLUSIONS: Our report of another ASD patient carrying the splice site mutation IVS5+2T>C, in ASMT further supports an involvement of this gene in autism. Moreover, our results also suggest that other melatonin related genes might be interesting candidates for further investigation in the search for genes involved in autism spectrum disorders and related neurobehavioral phenotypes. However, further studies of the novel variants identified in this study are warranted to shed light on their potential role in the pathophysiology of these disorders.
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9.
  • Strenn, Nina, 1984-, et al. (författare)
  • Associations between autistic-like traits and polymorphisms in NFKBIL1
  • 2019
  • Ingår i: Acta Neuropsychiatrica. - 0924-2708. ; 31:4, s. 220-229
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective:The immune system has been suggested to be associated with neuropsychiatric disorders; for example, elevated levels of cytokines and the inflammation-related transcription factor nuclear factor kappa-B (NF-κB) have been reported in individuals with autism spectrum disorder (ASD). The aim of this study was to investigate possible associations between autistic-like traits (ALTs) and single nucleotide polymorphisms (SNPs) in NFKB1 (encoding a subunit of the NF-κB protein complex) and NF-κB inhibitor-like protein 1 (NFKBIL1).Methods:The study was conducted in a cohort from the general population: The Child and Adolescent Twin Study in Sweden (CATSS, n = 12 319, 9-12 years old). The subjects were assessed by the Autism-Tics, ADHD, and Other Comorbidities Inventory. Five SNPs within the two genes were genotyped (NFKBIL1: rs2857605, rs2239707, rs2230365 and rs2071592; NFKB1: rs4648022).Results:We found significant associations for two SNPs in NFKBIL1: rs2239707 showed a significant distribution of genotype frequencies in the case-control analysis both for all individuals combined and in boys only, and rs2230365 was significantly associated with the ALTs-module language impairment in boys only. Furthermore, we found nominal association in the case-control study for rs2230365, replicating earlier association between this SNP and ASD in an independent genome-wide association study.Conclusion:The shown associations between polymorphisms in NFKBIL1 and ALTs are supporting an influence of the immune system on neuropsychiatric symptoms. © Scandinavian College of Neuropsychopharmacology 2019.
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10.
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