| 1. |
- Anney, Richard, et al.
(författare)
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A genome-wide scan for common alleles affecting risk for autism.
- 2010
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 19:20, s. 4072-4082
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Tidskriftsartikel (refereegranskat)abstract
- Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
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| 2. |
- Pinto, Dalila, et al.
(författare)
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Functional impact of global rare copy number variation in autism spectrum disorders.
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 466:7304, s. 368-372
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Tidskriftsartikel (refereegranskat)abstract
- The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be highly heritable ( approximately 90%), the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 x 10(-4)). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
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| 3. |
- Mahoney, Joseph L., et al.
(författare)
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Leisure activities and adolescent antisocial behavior : the role of structure and social context
- 2000
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Ingår i: Journal of Adolescence. - Amsterdam : Elsevier. - 0140-1971 .- 1095-9254. ; 23:2, s. 113-127
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Tidskriftsartikel (refereegranskat)abstract
- The goal of this study was to understand better how the structure and social context of adolescent leisure activities relates to antisocial behavior. A representative sample of 703 Ss (aged 14 yrs) and their parents were assessed concerning adolescent involvement in community-based leisure activities, peer and adult social relations, and antisocial behavior. Results showed that participation in highly structured leisure activities was linked to low levels of antisocial behavior, while participation in activities with low structure (i.e., a youth recreation center) was associated with high levels of antisocial behavior. Overall the results were similar for boys and girls; however, the combination of involvement in a low structured activity and the absence of any highly structured participation appeared especially problematic for boys' antisocial behavior. Participants of low structured activities were also characterized by deviant peer relations and poor parent-child relations, and they received low support from their activity leader compared to adolescents engaged in more structured community activities. Findings are discussed in terms of their implication for prevention research.
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| 4. |
- Mahoney, Joseph L., et al.
(författare)
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Structured after-school activities as a moderator of depressed mood for adolescents with detached relations to their parents
- 2002
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Ingår i: Journal of community psychology (Print). - : John Wiley & Sons. - 0090-4392 .- 1520-6629. ; 30:1, s. 69-86
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Tidskriftsartikel (refereegranskat)abstract
- This study investigated whether participation in structured after-school activities moderates the association between detached parent-adolescent relationships and adolescent depressed mood. A representative sample of 539 14-yr-olds and their parents were assessed concerning adolescent participation in after-school activities, the parent-adolescent relationship, and adolescent depressed mood. Results showed that adolescents with detached relations to their parents reported high levels of depressed mood. Adolescents who participated in after-school activities reported low levels of depressed mood compared to adolescents not participating in such activities, however, this was primarily true of participants who perceived high support from their activity leader. Support from after-school activity leaders was particularly important for a subgroup of youth characterized by highly detached relations to their parents. Although girls reported higher levels of depressed mood than did boys, the associated benefits of perceived support from an activity leader were consistent across gender
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| 5. |
- Mahoney, Joseph L., et al.
(författare)
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Unstructured youth recreation centre participation and antisocial behaviour development : Selection influences and the moderating role of antisocial peers.
- 2004
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Ingår i: International Journal of Behavioral Development. - : SAGE Publications. - 0165-0254 .- 1464-0651. ; 28:6, s. 553-560
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Tidskriftsartikel (refereegranskat)abstract
- This study involves a two-year longitudinal investigation of adolescent participation in unstructured youth recreation centres and the development of antisocial behaviour. Participants were 1163 adolescents who represented 92% of all eighth-grade students in the town of Orebro, Sweden, during the fall of 1999. Antisocial young people and those with poor relations to parents or school were likely to become involved in the centres. After controlling for these selection influences, the frequency of youth centre participation was associated with a significant increase in antisocial behaviour over time for boys and girls. Youth centres that aggregated many antisocial peers together were particularly likely to promote the antisocial behaviour of new attendees. The findings are consistent with prior theory and research on youth development and out-of-school activities. Activities that lack structure and skill-building aims appear to attract high-risk adolescents and the resulting social environment is conducive to the development of antisocial behaviour.
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| 6. |
- Mahoney, Joseph L., et al.
(författare)
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Youth recreation centre participation and criminal offending : a 20-year longitudinal study of Swedish boys
- 2001
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Ingår i: International Journal of Behavioral Development. - : SAGE Publications. - 0165-0254 .- 1464-0651. ; 25:6, s. 509-520
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Tidskriftsartikel (refereegranskat)abstract
- This study assessed whether participation in Swedish youth recreation centres (Fritidsgrdar) is related to long-term criminality assessed from late childhood to mid adulthood. A prospective, longitudinal investigation of a cohort of 498 boys (aged 10-13 yrs) from a Swedish community was employed. A pattern-analysis identified five configurations of boys who showed different profiles of social and academic competence at the age of 10. The configurations were compared with respect to juvenile and adult criminality for boys who did, and who did not, make the decision to participate in a youth recreation centre at age 13. Results showed that participation in youth centres was nonrandom. Boys with a multiple problem profile of both social and academic problems in school at age 10 showed more frequent participation in recreation centres at age 13. The frequency of criminal offending increased for all configurations of boys who became involved in a recreation centre. Frequent participation in youth centres was linked to high rates of juvenile offending and persistent offending (i.e., registered for one or several offences both as a juvenile and as an adult). These findings held after controlling for individual, family, and economic factors prior to youth centre involvement.
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