Interaction-integrated linear mixed model reveals 3D-genetic basis underlying Autism.
Genomics
; 115(2): 110575, 2023 03.
Article
in En
| MEDLINE
| ID: mdl-36758877
ABSTRACT
Genetic interactions play critical roles in genotype-phenotype associations. We developed a novel interaction-integrated linear mixed model (ILMM) that integrates a priori knowledge into linear mixed models. ILMM enables statistical integration of genetic interactions upfront and overcomes the problems of searching for combinations. To demonstrate its utility, with 3D genomic interactions (assessed by Hi-C experiments) as a priori, we applied ILMM to whole-genome sequencing data for Autism Spectrum Disorders (ASD) and brain transcriptome data, revealing the 3D-genetic basis of ASD and 3D-expression quantitative loci (3D-eQTLs) for brain tissues. Notably, we reported a potential mechanism involving distal regulation between FOXP2 and DNMT3A, conferring the risk of ASD.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Autistic Disorder
/
Autism Spectrum Disorder
Limits:
Humans
Language:
En
Journal:
Genomics
Journal subject:
GENETICA
Year:
2023
Document type:
Article
Affiliation country: