The G22A polymorphism of the ADA gene and susceptibility to autism spectrum disorders.
ADA G22A is not a useful autism marker for North American families.
01Research in Context
What this study did
Scientists looked at one tiny DNA change called G22A in the ADA gene. They asked if this change is more common in kids with autism than in kids without it.
Families from North America gave blood samples. The team compared the gene version between children with autism and healthy controls.
What they found
The G22A version showed up just as often in both groups. It did not raise autism risk.
The only blip was a slight increase in how often dads passed the version to affected kids. This hint was too small to matter for families.
How this fits with other research
Pu et al. (2013) pooled eight studies and found the MTHFR C677T version does raise autism risk about 1.4 times. The ADA study used the same case-control style but found nothing, showing that not every gene change matters.
Horinouchi et al. (2022) tested UGT1A1 and also saw no link with autism. Together these papers form a line of "no-go" markers you can ignore when talking genes with parents.
Cicchetti et al. (2014) took a different path. They looked at two GABA receptor genes at once and found a positive effect when the markers team up. This tells us single-gene hunts often miss what combo approaches can catch.
Why it matters
You can now tell families that the ADA G22A test gives no useful autism risk information. Save your energy for assessments that track behavior and skill, not this gene. If parents still want genetic clues, point them toward broader panels or microarray studies like Al-Mamari et al. (2015) that find real variants in a quarter of cases with dysmorphic features.
Want CEUs on This Topic?
The ABA Clubhouse has 60+ free CEUs — live every Wednesday. Ethics, supervision & clinical topics.
Join Free →Skip ADA G22A when updating a family's genetic risk form.
02At a glance
03Original abstract
Inborn errors of purine metabolism have been implicated as a cause for some cases of autism. This hypothesis is supported by the finding of decreased adenosine deaminase (ADA) activity in the sera of some children with autism and reports of an association of the A allele of the ADA G22A (Asp8Asn) polymorphism in individuals with autism of Italian-descent. We tested the ADA G22A polymorphism in 126 North American affected sib-pair families but found no aberrant allele distributions in cases versus controls. Instead, we found an increased transmission of the G allele from fathers to affected children. Our findings suggest that the ADA G22A polymorphism plays a minimal role in susceptibility to autism in North American families.
Journal of autism and developmental disorders, 2008 · doi:10.1007/s10803-006-0354-0