Lavinia Athanasiu
A5043490163- Genetic Associations and Epidemiology
- Genetics and Neurodevelopmental Disorders
- Schizophrenia research and treatment
- Bioinformatics and Genomic Networks
- Bipolar Disorder and Treatment
- Alzheimer's disease research and treatments
- Epigenetics and DNA Methylation
- Birth, Development, and Health
- Genomic variations and chromosomal abnormalities
- Nutrition, Genetics, and Disease
- Diet and metabolism studies
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Neuroinflammation and Neurodegeneration Mechanisms
- Tryptophan and brain disorders
- Autism Spectrum Disorder Research
- Complement system in diseases
- Child and Adolescent Psychosocial and Emotional Development
- Child Abuse and Trauma
- Health, Environment, Cognitive Aging
- Attention Deficit Hyperactivity Disorder
- Health Systems, Economic Evaluations, Quality of Life
- Pregnancy and preeclampsia studies
- Congenital heart defects research
- Nuclear Receptors and Signaling
University of Oslo
2015-2024
Oslo University Hospital
2015-2024
Abstract Characterization of the genetic landscape Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for better understanding associated pathophysiological processes. We performed two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases 677,663 controls. found 75 risk loci, which 42 were new at time analysis. Pathway enrichment analyses confirmed involvement amyloid/tau pathways highlighted microglia implication. Gene...
Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable common childhood-onset neurodevelopmental disorder. Some rare copy number variations (CNVs) affect multiple disorders such as intellectual disability, autism spectrum (ASD), schizophrenia and ADHD. The aim of this study to determine what extent ADHD shares high risk CNV alleles with ASD. We compiled 19 neuropsychiatric CNVs test 14, sufficient power, for association in Icelandic Norwegian samples. Eight associate ADHD;...
ABSTRACT Alzheimer’s disease (AD) is a severe and incurable neurodegenerative disease, the failure to find effective treatments suggests that underlying pathology remains poorly understood. Due its strong heritability, deciphering genetic landscape of AD related dementia (ADD) unique opportunity advance our knowledge. We completed meta-analysis genome-wide association studies (39,106 clinically AD-diagnosed cases, 46,828 proxy-ADD cases 401,577 controls) with most promising signals...
Abstract Background The Norwegian Mother, Father, and Child Cohort Study (MoBa) is a population-based pregnancy cohort, which includes approximately 114,500 children, 95,200 mothers, 75,200 fathers. Genotyping of MoBa has been conducted through multiple research projects, spanning several years; using varying selection criteria, genotyping arrays, centres. contains numerous interrelated families, necessitated the implementation family-based quality control (QC) pipeline that verifies...
Loss-of-function mutations in the genes associated with primary microcephaly (MCPH) reduce human brain size by about two-thirds, without producing gross abnormalities organization or physiology and leaving other organs largely unaffected [Woods CG, et al. (2005) Am J Hum Genet 76:717-728]. There is also evidence suggesting that MCPH have evolved rapidly primates humans been subjected to selection recent evolution [Vallender EJ, (2008) Trends Neurosci 31:637-644]. Here, we show common...
Abstract Dementia with Lewy Bodies (DLB) is a common neurodegenerative disorder poor prognosis and mainly unknown pathophysiology. Heritability estimates exceed 30% but few genetic risk variants have been identified. Here we investigated associated DLB in large European multisite sample. We performed genome wide association study Norwegian cohorts of 720 cases 6490 controls included 19 top-associated single-nucleotide polymorphisms an additional cohort 108 75545 from Iceland. Overall the 828...
The complement cascade plays a role in synaptic pruning and plasticity, which seem to be involved cognitive functions psychiatric disorders. Genetic variants the closely related CSMD1 CSMD2 genes, are implicated regulation, associated with schizophrenia. Since patients schizophrenia often show impairments, we tested whether also per se. We took discovery-replication approach, using well-characterized Scandinavian cohorts. A total of 1637 SNPs 206 were for association NCNG sample (Norwegian...
TCF4 is involved in neurodevelopment, and intergenic intronic variants or close to the gene have been associated with susceptibility schizophrenia. However, functional role of at level expression relationship severity core psychotic phenotypes are not known. mRNA peripheral blood was determined a large sample patients psychosis spectrum disorders (n=596) healthy controls (n=385). The previously identified risk (rs12966547 (G), rs9960767 (C), rs4309482 (A), rs2958182 (T) rs17512836 (C)) were...
Objective: The functional polymorphism in the promoter region of SLC6A4/5-HTT serotonin transporter gene (5-HTTLPR) has been linked to altered stress response. Carriers short (s-) allele have increased negative psychological reactions and hormone release compared with carriers long (l-) allele, interacting severe life events including childhood trauma. High levels are associated cognitive impairments a variety clinical experimental studies. Patients psychotic disorders characterized both by...
Abstract Reduced telomere length (TL) and structural brain abnormalities have been reported in patients with schizophrenia (SZ) bipolar disorder (BD). Childhood traumatic events are more frequent SZ BD than healthy individuals (HC), based on recent findings could represent one important factor for TL aberrations patients. The study comprised 1024 (SZ [ n = 373]; 249] HC 402]). was measured by quantitative polymerase chain reaction (qPCR), childhood trauma assessed using the Trauma...