Replicative genetic association study between functional polymorphisms in AVPR1A and social behavior scales of autism spectrum disorder in the Korean population.
So Young Yang, Soon Ae Kim, Gang Min Hur and 3 others
PMID 28808521WHAT IT FOUND
The RS3 microsatellite was not replicated, but AVPR1A SNPs were associated with ASD and social behavior scores in 212 Korean families.
This is a genetics result, not a treatment finding.
Key findings
01The rs10877969 A allele and the rs7294536 A allele showed significant transmission in the family association test.
02The SNPs rs7294536 and rs10877969 were significantly associated with multiple quantitative traits related to sociality and social communication.
03No association was observed between RS3 and ASD in this replication sample.
STILL TO COME
How it was doneWhat they found
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What it does not show
The study tested gene variants and lab promoter activity, not patient treatment. The authors did not replicate the earlier RS3 microsatellite association. The authors say the reason for inconsistency with earlier microsatellite findings is not fully explained. The authors say they did not assess all variants in the AVPR1A region, and untested variants could matter. Parents' behavioral characteristics were not evaluated, so relationships with broader autism phenotype could not be examined. The lab work used T98G glioblastoma cells, which are not nerve cells, and the authors say this may create inconsistencies with previous cell-line work. The findings are from Korean families, and the authors note differences from other populations may reflect ethnic group, statistical methods, or sample size.
Declared interests
The article names the Ministry of Health and Welfare and the National Research Foundation of Korea as funders.
The easy way to misread this
Do not read the significant SNPs as a confirmed genetic cause of ASD. The study did not replicate the RS3 microsatellite finding and tested promoter activity in cells that are not nerve cells.