Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations.
East Asian GWAS confirms known and flags new autism-risk genes.
01Research in Context
What this study did
Liu et al. (2016) looked at DNA from many East Asian families. They scanned the whole genome for tiny changes linked to autism.
The team combined data from several studies. This gave them more power to spot real genetic signals.
What they found
One spot near the RIT2 gene showed the strongest link to autism. They also confirmed several genes already tied to the disorder.
The findings show both known and new autism-risk genes in East Asian people.
How this fits with other research
Xia et al. (2020) ran a similar scan in Han Chinese families. They found the same pattern, but their signals were weaker. The match adds confidence to the 2016 results.
Kealhofer et al. (2025) went further. They blended autism data with data on heart defects, schizophrenia, and ID. This tripled the number of risk genes found. The 2016 GWAS now sits inside this bigger map.
Wang et al. (2018) took a narrower path. They only checked neurexin genes in Chinese people. They found two changes tied to autism, showing smaller hunts can still pay off.
Why it matters
You can tell families that autism has clear genetic roots in East Asian groups. Point to the RIT2 gene as one example. Keep an eye on newer multi-disorder studies; they may add fresh genes to your talking points. When parents ask about heritability, you now have East Asian data to share, not just European findings.
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02At a glance
03Original abstract
Autism spectrum disorder is a heterogeneous neurodevelopmental disorder with strong genetic basis. To identify common genetic variations conferring the risk of ASD, we performed a two-stage genome-wide association study using ASD family and healthy control samples obtained from East Asian populations. A total of 166 ASD families (n = 500) and 642 healthy controls from the Japanese population were used as the discovery cohort. Approximately 900,000 single nucleotide polymorphisms (SNPs) were genotyped using Affymetrix Genome-Wide Human SNP array 6.0 chips. In the replication stage, 205 Japanese ASD cases and 184 healthy controls, as well as 418 Chinese Han trios (n = 1,254), were genotyped by TaqMan platform. Case-control analysis, family based association test, and transmission/disequilibrium test (TDT) were then conducted to test the association. In the discovery stage, significant associations were suggested for 14 loci, including 5 known ASD candidate genes: GPC6, JARID2, YTHDC2, CNTN4, and CSMD1. In addition, significant associations were identified for several novel genes with intriguing functions, such as JPH3, PTPRD, CUX1, and RIT2. After a meta-analysis combining the Japanese replication samples, the strongest signal was found at rs16976358 (P = 6.04 × 10(-7)), which is located near the RIT2 gene. In summary, our results provide independent support to known ASD candidate genes and highlight a number of novel genes warranted to be further investigated in a larger sample set in an effort to improve our understanding of the genetic basis of ASD.
Autism research : official journal of the International Society for Autism Research, 2016 · doi:10.1002/aur.1536