Common genetic risk factors in ASD and ADHD co-occurring families.

Researchers studied the DNA of 272 people from 73 families affected by autism to understand why autism and ADHD often occur together. They found specific areas on chromosomes 12 and 17 linked to ADHD risk, and identified 207 genes that might contribute to both conditions. One gene called KDM6B appears particularly important. The study also found that problems with cell structures called cilia and certain brain channels might play a role in both autism and ADHD.

This genetic study analyzed 272 samples from 73 families in the New Jersey Language and Autism Genetics Study to investigate shared genetic risk factors between autism spectrum disorder (ASD) and ADHD. Researchers used whole-genome sequencing and linkage analysis to identify genetic regions and candidate genes associated with both conditions. The study identified significant linkage regions on chromosomes 12 and 17 associated with ADHD, with KDM6B emerging as the highest-ranking risk gene. At the whole-genome level, 207 candidate genes were identified through analysis of genetic variants.

Enrichment analyses revealed key biological pathways including cilia function and cation channel activity that may contribute to both ASD and ADHD development.

Findings may eventually inform genetic counseling for families with autism and ADHD co-occurrence. Identified genes and pathways could guide future research into targeted treatments. However, clinical translation requires further validation studies and functional characterization of genetic variants.

Study limited to 73 families from single cohort. Functional validation of candidate genes not provided. Clinical significance of identified genetic variants unclear. No comparison with control families without neurodevelopmental conditions.

Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are two major neurodevelopmental disorders that frequently co-occur. However, the genetic mechanism of the co-occurrence remains unclear. The New Jersey Language and Autism Genetics Study (NJLAGS) collected more than 100 families with at least one member affected by ASD. NJLAGS families show a high prevalence of ADHD and provide a good opportunity to study shared genetic risk factors for ASD and ADHD.

The linkage study of the NJLAGS families revealed regions on chromosomes 12 and 17 that are significantly associated with ADHD. Using whole-genome sequencing data on 272 samples from 73 NJLAGS families, we identified potential risk genes for ASD and ADHD. Within the linkage regions, we identified 36 genes that are associated with ADHD using a pedigree-based gene prioritization approach. KDM6B (Lysine Demethylase 6B) is the highest-ranking gene, which is a known risk gene for neurodevelopmental disorders, including ASD and ADHD.

At the whole-genome level, we identified 207 candidate genes from the analysis of both small variants and structure variants, including both known and novel genes. Using enrichment and protein-protein interaction network analyses, we identified gene ontology terms and pathways enriched for ASD and ADHD candidate genes, such as cilia function and cation channel activity. Candidate genes and pathways identified in our study improve the understanding of the genetic etiology of ASD and ADHD and will lead to new diagnostic or therapeutic interventions for ASD and ADHD in the future.