WFRF:(Baron Cohen S)
Sökning: WFRF:(Baron Cohen S) > (2022) > Genetic correlates ...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 02602naa a2200445 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:149765642 | |
| 003 | SwePub | |
| 008 | 240917s2022 | |||||||||||000 ||eng| | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1497656422 URI |
| 024 | 7 | a https://doi.org/10.1038/s41588-022-01072-52 DOI |
| 040 | a (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Warrier, V4 aut |
| 245 | 1 0 | a Genetic correlates of phenotypic heterogeneity in autism |
| 264 | c 2022-06-02 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2022 |
| 520 | a The substantial phenotypic heterogeneity in autism limits our understanding of its genetic etiology. To address this gap, here we investigated genetic differences between autistic individuals (nmax = 12,893) based on core and associated features of autism, co-occurring developmental disabilities and sex. We conducted a comprehensive factor analysis of core autism features in autistic individuals and identified six factors. Common genetic variants were associated with the core factors, but de novo variants were not. We found that higher autism polygenic scores (PGS) were associated with lower likelihood of co-occurring developmental disabilities in autistic individuals. Furthermore, in autistic individuals without co-occurring intellectual disability (ID), autism PGS are overinherited by autistic females compared to males. Finally, we observed higher SNP heritability for autistic males and for autistic individuals without ID. Deeper phenotypic characterization will be critical in determining how the complex underlying genetics shape cognition, behavior and co-occurring conditions in autism. | |
| 700 | 1 | a Zhang, XH4 aut |
| 700 | 1 | a Reed, P4 aut |
| 700 | 1 | a Havdahl, A4 aut |
| 700 | 1 | a Moore, TM4 aut |
| 700 | 1 | a Cliquet, F4 aut |
| 700 | 1 | a Leblond, CS4 aut |
| 700 | 1 | a Rolland, T4 aut |
| 700 | 1 | a Rosengren, A4 aut |
| 700 | 1 | a Rowitch, DH4 aut |
| 700 | 1 | a Hurles, ME4 aut |
| 700 | 1 | a Geschwind, DH4 aut |
| 700 | 1 | a Borglum, AD4 aut |
| 700 | 1 | a Robinson, EB4 aut |
| 700 | 1 | a Grove, J4 aut |
| 700 | 1 | a Martin, HC4 aut |
| 700 | 1 | a Bourgeron, T4 aut |
| 700 | 1 | a Baron-Cohen, S4 aut |
| 773 | 0 | t Nature geneticsd : Springer Science and Business Media LLCg 54:69, s. 1293-+q 54:69<1293-+x 1546-1718x 1061-4036 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:149765642 |
| 856 | 4 8 | u https://doi.org/10.1038/s41588-022-01072-5 |
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