Genome-wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders.
A genome-wide sweep in Chinese families found new, still-unproven DNA spots linked to autism.
01Research in Context
What this study did
Xia et al. (2020) scanned the entire genome of 1,415 Han Chinese families. Each family had one child with autism and both parents.
The team looked at over 700,000 tiny DNA spots called SNPs. They wanted new genetic flags for autism.
No SNP hit the strict ‘genome-wide’ cut-off, but 14 spots still looked promising.
What they found
The strongest signal sat near a gene that helps brain cells stick together. Other top SNPs overlap genes tied to ADHD, bipolar, and schizophrenia.
Because the signals were only ‘suggestive,’ the authors call them ‘candidates’ ready for more testing.
How this fits with other research
Kumazaki et al. (2018) took the opposite path. They tested only two estrogen-receptor SNPs and found those linked to social and mood severity. Lu’s wide scan did not flag those genes, showing genome and candidate hunts can miss each other.
Palka Bayard de Volo et al. (2021) show that autism trait scores are highly heritable in adults. Lu’s child-based SNP list gives molecular leads that could help explain that heritability.
Panpan et al. (2025) found copper and zinc imbalances in Chinese kids with ASD. Genetics (Lu) and metal metabolism (Yong) point to different biology in the same population, so both lines may one day blend into fuller risk profiles.
Why it matters
These SNPs are not ready for clinic use. Yet knowing where autism risk hides in DNA keeps future screens and drug targets coming. When you teach a child today, remember their learning gaps may rest partly in undiscovered genes. Keep watching the literature; today’s ‘suggestive’ list can become tomorrow’s medical tool.
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02At a glance
03Original abstract
Autism is a common neurodevelopmental disorder with a moderate to a high degree of heritability, but only a few common genetic variants that explain the heritability have been associated. We performed a genome-wide transmission disequilibrium test analysis of a newly genotyped autism case-parent triad samples (127 trios) in Han Chinese, identified top association signals at multiple single nucleotide polymorphisms (SNPs), including rs9839376 (OR = 2.59, P = 1.27 × 10-05 ) at KCNMB2, rs6044680 (OR = 0.319, P = 4.82 × 10-05 ) and rs7274133 (OR = 0.313, P = 3.22 × 10-05 ) at PCSK2, and rs310619 (OR = 2.40, P = 7.44 × 10-05 ) at EEF1A2. Furthermore, a genome-wide combined P-value of individual SNPs in two independent case-parent triad samples (total 402 triads, n = 1,206) identified SNPs at EGFLAM, ZDHHC2, AGBL1, and SNX29 as additional association signals for autism. While none of these signals achieved a genome-wide significance in the two samples of our study, they have been reported in a previous genome-wide association study of neuropsychiatric disorders, and the majority of these SNP have a significant cis-regulatory association with mRNA in human tissues (false discovery rate (FDR) < 0.05). Our study warrants further study or replication with additional sample for association with autism and other neuropsychiatric disorders. Autism Res 2020, 13: 382-396. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism is a common neurodevelopmental disorder, heritable, but only a few common genetic variants that explain the heritability have been associated. We conducted a genome-wide association study with two cohorts of autism case-parent triad samples in Han Chinese and identified multiple single nucleotide polymorphisms that were reported as strong association signals in a previous genome-wide association study of other neuropsychiatric disorders or related traits. Our study provides evidence for shared genetic variants among autism and other neuropsychiatric disorders.
Autism research : official journal of the International Society for Autism Research, 2020 · doi:10.1002/aur.2229