{"entity": "journal", "iuid": "d04c3924fb2a42b987ce3b34c4949292", "timestamp": "2026-08-22T06:51:04.250Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/journal/Autism%20Res.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/journal/Autism%20Res"}}, "title": "Autism Res", "issn": "1939-3806", "issn-l": null, "publications_count": 2, "publications": [{"entity": "publication", "iuid": "3f2fed5fa0cd46f9b92b921a5dc64255", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/3f2fed5fa0cd46f9b92b921a5dc64255.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/3f2fed5fa0cd46f9b92b921a5dc64255"}}, "title": "Well-being spectrum traits are associated with polygenic scores for autism.", "authors": [{"family": "Mohammad", "given": "Salahuddin", "initials": "S", "orcid": "0000-0002-6050-4708", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d5b134436bb042c49e2734742d49a540.json"}}, {"family": "de Ruijter", "given": "Markus J T", "initials": "MJT"}, {"family": "Rukh", "given": "Gull", "initials": "G"}, {"family": "Rask-Andersen", "given": "Mathias", "initials": "M"}, {"family": "Mwinyi", "given": "Jessica", "initials": "J"}, {"family": "Schi\u00f6th", "given": "Helgi B", "initials": "HB"}], "type": "journal article", "published": "2023-10-00", "journal": {"title": "Autism Res", "issn": "1939-3806", "volume": "16", "issue": "10", "pages": "1891-1902", "issn-l": null}, "abstract": "Individuals with autism spectrum disorder (ASD) tend to experience lower well-being as demonstrated mostly for children and adolescents in epidemiological studies. A further investigation of inclusive well-being, in terms of five well-being spectrum (5-WBS) traits including neuroticism, depression, loneliness, life satisfaction, and positive affect, among adults with ASD may deepen our understanding of their well-being, and lead to the possibility to further modify societal supportive mechanisms for individuals with ASD. This study aims to investigate if a genetic predisposition for ASD is associated with 5-WBS traits using polygenic risk score (PRS) analysis. PRS for ASD were calculated based on the latest genome-wide association study of ASD by the Psychiatric Genetics Consortium (18,381 cases, 27,969 controls) and were created in the independent cohort UK Biobank. Regression analyses were performed to investigate the association between ASD PRS and 5-WBS traits in the UK Biobank population including 337,423 individuals. ASD PRS were significantly associated with all 5-WBS traits, showing a positive association with the negative WBS traits, neuroticism (max R2 = 0.04%, p < 1 \u00d7 10-4 ), depression (max R2 = 0.06%, p < 1 \u00d7 10-4 ), loneliness (max R2 = 0.04%, p < 1 \u00d7 10-4 ), and a negative association with the positive WBS traits, life satisfaction (max R2 = 0.08%, p < 1 \u00d7 10-4 ), positive affect (max R2 = 0.10%, p < 1 \u00d7 10-4 ). The findings suggest that adults carrying a high load of risk single nucleotide peptides (SNPs) for ASD are more likely to report decreased well-being. The study demonstrates a considerable connection between susceptibility to ASD, its underlying genetic etiology and well-being.", "doi": "10.1002/aur.3011", "pmid": "37602645", "labels": [], "xrefs": [], "notes": [], "created": "2026-08-21T11:00:23.400Z", "modified": "2026-08-21T11:00:23.477Z"}, {"entity": "publication", "iuid": "da73ef4ef0e54205815fd288ba83839b", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/da73ef4ef0e54205815fd288ba83839b.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/da73ef4ef0e54205815fd288ba83839b"}}, "title": "Rare variants in the outcome of social skills group training for autism.", "authors": [{"family": "Li", "given": "Danyang", "initials": "D"}, {"family": "Choque Olsson", "given": "Nora", "initials": "N"}, {"family": "Becker", "given": "Martin", "initials": "M"}, {"family": "Arora", "given": "Abishek", "initials": "A"}, {"family": "Jiao", "given": "Hong", "initials": "H"}, {"family": "Norgren", "given": "Nina", "initials": "N"}, {"family": "Jonsson", "given": "Ulf", "initials": "U"}, {"family": "B\u00f6lte", "given": "Sven", "initials": "S"}, {"family": "Tammimies", "given": "Kristiina", "initials": "K", "orcid": "0000-0002-8324-4697", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/480cdbabfc57460f967e6921f12e6ec4.json"}}], "type": "journal article", "published": "2022-03-00", "journal": {"title": "Autism Res", "issn": "1939-3806", "volume": "15", "issue": "3", "pages": "434-446", "issn-l": null}, "abstract": "Exome sequencing has been proposed as the first-tier genetic testing in autism spectrum disorder (ASD). Here, we performed exome sequencing in autistic individuals with average to high intellectual abilities (N = 207) to identify molecular diagnoses and genetic modifiers of intervention outcomes of social skills group training (SSGT) or standard care. We prioritized variants of clinical significance (VCS), variants of uncertain significance (VUS) and generated a pilot scheme to calculate genetic scores of rare and common variants in ASD-related gene pathways. Mixed linear models were used to test the association between the carrier status of VCS/VUS or the genetic scores with intervention outcomes measured by the social responsiveness scale. Additionally, we combined behavioral and genetic features using a machine learning (ML) model to predict the individual response. We showed a rate of 4.4% and 11.3% of VCS and VUS in the cohort, respectively. Individuals with VCS or VUS had improved significantly less after standard care than non-carriers at post-intervention (\u03b2 = 9.35; p = 0.036), while no such association was observed for SSGT (\u03b2 = -2.50; p = 0.65). Higher rare variant genetic scores for synaptic transmission and regulation of transcription from RNA polymerase II were separately associated with less beneficial (\u03b2 = 8.30, p = 0.0044) or more beneficial (\u03b2 = -6.79, p = 0.014) effects after SSGT compared with standard care at follow-up, respectively. Our ML model showed the importance of rare variants for outcome prediction. Further studies are needed to understand genetic predisposition to intervention outcomes in ASD.", "doi": "10.1002/aur.2666", "pmid": "34968013", "labels": [], "xrefs": [], "notes": [], "created": "2026-08-21T11:00:20.308Z", "modified": "2026-08-21T11:00:21.153Z"}], "created": "2026-08-21T11:00:20.454Z", "modified": "2026-08-21T11:00:20.454Z"}