[article]
Titre : |
Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study |
Type de document : |
Texte imprimé et/ou numérique |
Auteurs : |
Allison R. HICKMAN, Auteur ; Bradley SELEE, Auteur ; Rini PAULY, Auteur ; Benafsh HUSAIN, Auteur ; Yuqing HANG, Auteur ; Frank Alex FELTUS, Auteur |
Article en page(s) : |
p.3595-3612 |
Langues : |
Anglais (eng) |
Index. décimale : |
PER Périodiques |
Résumé : |
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by challenges in social communication as well as repetitive or restrictive behaviors. Many genetic associations with ASD have been identified, but most associations occur in a fraction of the ASD population. Here, we searched for eQTL-associated DNA variants with significantly different allele distributions between ASD-affected and control. Thirty significant DNA variants associated with 174 tissue-specific eQTLs from ASD individuals in the SPARK project were identified. Several significant variants fell within brain-specific regulatory regions or had been associated with a significant change in gene expression in the brain. These eQTLs are a new class of biomarkers that could control the myriad of brain and non-brain phenotypic traits seen in ASD-affected individuals. |
En ligne : |
https://doi.org/10.1007/s10803-022-05631-x |
Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=511 |
in Journal of Autism and Developmental Disorders > 53-9 (September 2023) . - p.3595-3612
[article] Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study [Texte imprimé et/ou numérique] / Allison R. HICKMAN, Auteur ; Bradley SELEE, Auteur ; Rini PAULY, Auteur ; Benafsh HUSAIN, Auteur ; Yuqing HANG, Auteur ; Frank Alex FELTUS, Auteur . - p.3595-3612. Langues : Anglais ( eng) in Journal of Autism and Developmental Disorders > 53-9 (September 2023) . - p.3595-3612
Index. décimale : |
PER Périodiques |
Résumé : |
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by challenges in social communication as well as repetitive or restrictive behaviors. Many genetic associations with ASD have been identified, but most associations occur in a fraction of the ASD population. Here, we searched for eQTL-associated DNA variants with significantly different allele distributions between ASD-affected and control. Thirty significant DNA variants associated with 174 tissue-specific eQTLs from ASD individuals in the SPARK project were identified. Several significant variants fell within brain-specific regulatory regions or had been associated with a significant change in gene expression in the brain. These eQTLs are a new class of biomarkers that could control the myriad of brain and non-brain phenotypic traits seen in ASD-affected individuals. |
En ligne : |
https://doi.org/10.1007/s10803-022-05631-x |
Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=511 |
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