Saira Jameela Hübenette

• Hope, Sigrun; Lin, Aihua; Rødevand, Linn; Hübenette, Saira Jameela; Quintana, Daniel & Sønderby, Ida Elken [Vis alle 17 forfattere av denne artikkelen] (2025). Shared genetic architecture between autism spectrum disorder, loneliness, and social isolation reveals novel genetic loci. Psychiatric Genetics. ISSN 0955-8829. doi: 10.1097/ypg.0000000000000406. Fulltekst i vitenarkiv Vis sammendrag

  Objective: Deficits in social communication and social interaction are core features of autism spectrum disorder (ASD), and studies suggest that loneliness and social isolation are common. ASD has a strong genetic basis, but the genetic architecture and overlap with social phenotypes are not clear. Methods: We analyzed summary statistics from genome-wide association studies on ASD (46 350), loneliness (452 302), and social isolation (288 950), using linkage disequilibrium score regression, local analysis of covariant annotation (LAVA), bivariate causal mixture model (MiXeR), and the conditional/conjunctional false discovery rate (cond/conjFDR). Results: For ASD and social isolation, we found nonsignificant global genetic correlation ( r g = 0.02, P  = 0.8), but LAVA identified 72 genomic regions with bidirectional correlations, and MiXeR estimated that 8.7 k of 13.1 k variants (81%) were shared, of which 53% had concordant effect directions. For ASD and loneliness, we found a positive genetic correlation ( r g = 0.26, P  = 2e-10), LAVA identified 80 genomic regions with bidirectional genetic correlations, and MiXeR suggested that at least 3.8 k variants were shared. We identified nine specific shared genetic loci between ASD and loneliness and eight between ASD and social isolation (conjFDR < 0.05). Of these, 12 loci were novel for ASD. Genes mapped to these loci are involved in γ-aminobutyric acid (GABA), glutamate, calcium, and stress hormone signaling, cerebral glucose transport, TAU-accumulation, and immune function. Conclusion: We found extensive overlap in genetic architecture between ASD, loneliness, and social isolation, with bidirectional effects. By leveraging data for ASD and social traits, we identified 12 novel ASD related genetic loci implicating several genes, thereby elucidating potential pathways underlying their shared genetic architecture.

• Hope, Sigrun; Shadrin, Alexey; Lin, Aihua; Bahrami, Shahram; Rødevand, Linn & Frei, Oleksandr [Vis alle 17 forfattere av denne artikkelen] (2023). Bidirectional genetic overlap between autism spectrum disorder and cognitive traits. Translational Psychiatry. 13(1), s. 1–9. doi: 10.1038/s41398-023-02563-7. Fulltekst i vitenarkiv Vis sammendrag

  Autism spectrum disorder (ASD) is a highly heritable condition with a large variation in cognitive function. Here we investigated the shared genetic architecture between cognitive traits (intelligence (INT) and educational attainment (EDU)), and risk loci jointly associated with ASD and the cognitive traits. We analyzed data from genome-wide association studies (GWAS) of INT (n = 269,867), EDU (n = 766,345) and ASD (cases n = 18,381, controls n = 27,969). We used the bivariate causal mixture model (MiXeR) to estimate the total number of shared genetic variants, local analysis of co-variant annotation (LAVA) to estimate local genetic correlations, conditional false discovery rate (cond/conjFDR) to identify specific overlapping loci. The MiXeR analyses showed that 12.7k genetic variants are associated with ASD, of which 12.0k variants are shared with EDU, and 11.1k are shared with INT with both positive and negative relationships within overlapping variants. The majority (59–68%) of estimated shared loci have concordant effect directions, with a positive, albeit modest, genetic correlation between ASD and EDU (rg = 0.21, p = 2e−13) and INT (rg = 0.22, p = 4e−12). We discovered 43 loci jointly associated with ASD and cognitive traits (conjFDR<0.05), of which 27 were novel for ASD. Functional analysis revealed significant differential expression of candidate genes in the cerebellum and frontal cortex. To conclude, we quantified the genetic architecture shared between ASD and cognitive traits, demonstrated mixed effect directions, and identified the associated genetic loci and molecular pathways. The findings suggest that common genetic risk factors for ASD can underlie both better and worse cognitive functioning across the ASD spectrum, with different underlying biology.

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• Hübenette, Saira Jameela (2025). Spatial and temporal processing of auditory stimuli. Fulltekst i vitenarkiv Vis sammendrag

  Tracking a moving sound in space requires continuous prediction of its next location. This implies that we must combine information about the time and location of the sound, to accurately predict its trajectory. Using EEG, auditory motion processing has previously been found in frontal, central, and parietal areas of the brain. Prior studies have suggested that space and time for auditory stimuli are processed separately in the brain. Despite the seemingly distinct processing pathways of spatial and temporal sound information, they must integrate at some stage to enable the prediction of movement. It remains unknown if these processes are initially working in parallel and then converging at some point, or if there are several instances of convergence throughout. The goal of this study is to delineate the neural correlates of spatial and temporal processing of moving sounds, and to assess how and when they converge to aid in the tracking of the sound movement.

• Hübenette, Saira Jameela; Solbakk, Anne-Kristin; Danielsen, Anne; Endestad, Tor & Blenkmann, Alejandro Omar (2025). Hearing in motion: Spatial and temporal processing of auditory stimuli. doi: https:/www.dropbox.com/scl/fi/ijya3kj1w1dl2e7vyjo5y/ICAC25-poster.pdf?rlkey=2516eohjz9vyx3g7qj7rjsedc&st=wm335i35&dl=0. Fulltekst i vitenarkiv Vis sammendrag

  Tracking a moving sound in space requires continuous prediction of its next location. This implies that we must combine information about the time and location of the sound, to accurately predict its trajectory. Using EEG, auditory motion processing has previously been found in frontal, central, and parietal areas of the brain. Prior studies have suggested that space and time for auditory stimuli are processed separately in the brain. Despite the seemingly distinct processing pathways of spatial and temporal sound information, they must integrate at some stage to enable the prediction of movement. It remains unknown if these processes are initially working in parallel and then converging at some point, or if there are several instances of convergence throughout. The goal of this study was to delineate the neural correlates of spatial and temporal processing of moving sounds, and to assess how and when they converge to aid in the tracking of the sound movement.

• Pieschnik, Sophia; Golla, Archana; Reiten, Ingrid; Schlegel, Ulrike; Hennestad, Eivind & Hübenette, Saira Jameela [Vis alle 20 forfattere av denne artikkelen] (2023). Pioneering open neuroscience - the role of the curation services. Fulltekst i vitenarkiv

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