Lack of replication of previous autism spectrum disorder GWAS hits in European populations.
Three once-promising autism gene links failed to repeat in a large European sample, showing early genetic hits often fade.
01Research in Context
What this study did
Torrico et al. (2017) pooled data from many European groups.
They re-checked three DNA spots that earlier papers said were tied to autism.
The team used big samples to see if the link would hold up.
What they found
None of the three spots showed a clear autism signal.
Odds ratios landed near 1.0 and p-values were not significant.
In plain words, the earlier ‘hits’ did not repeat.
How this fits with other research
Zhang et al. (2019) ran a similar null check on the CNTNAP2 gene and also found no link, backing the idea that single common variants are weak.
Ganz et al. (2009) saw the same mixed story: one cohort showed a MET gene signal, another did not, hinting that population background can flip results.
Zhang et al. (2019) moved past these dead ends and scanned the whole genome again, looking for new targets instead of re-testing old ones.
Why it matters
For BCBAs, this means today’s genetic ‘risk scores’ are still too shaky to guide therapy choices.
Keep focusing on skill-based assessments and behavior plans.
If families ask about DNA tests, you can say the science is still being sorted and large studies have not yet pinned down useful common markers.
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02At a glance
03Original abstract
Common variants contribute significantly to the genetics of autism spectrum disorder (ASD), although the identification of individual risk polymorphisms remains still elusive due to their small effect sizes and limited sample sizes available for association studies. During the last decade several genome-wide association studies (GWAS) have enabled the detection of a few plausible risk variants. The three main studies are family-based and pointed at SEMA5A (rs10513025), MACROD2 (rs4141463) and MSNP1 (rs4307059). In our study we attempted to replicate these GWAS hits using a case-control association study in five European populations of ASD patients and gender-matched controls, all Caucasians. Results showed no association of individual variants with ASD in any of the population groups considered or in the combined European sample. We performed a meta-analysis study across five European populations for rs10513025 (1,904 ASD cases and 2,674 controls), seven European populations for rs4141463 (2,855 ASD cases and 36,177 controls) and five European populations for rs4307059 (2,347 ASD cases and 2,764 controls). The results showed an odds ratio (OR) of 1.05 (95% CI = 0.84-1.32) for rs10513025, 1.0002 (95% CI = 0.93-1.08) for rs4141463 and 1.01 (95% CI = 0.92-1.1) for rs4307059, with no significant P-values (rs10513025, P = 0.73; rs4141463, P = 0.95; rs4307059, P = 0.9). No association was found when we considered either only high functioning autism (HFA), genders separately or only multiplex families. Ongoing GWAS projects with larger ASD cohorts will contribute to clarify the role of common variation in the disorder and will likely identify risk variants of modest effect not detected previously. Autism Res 2017, 10: 202-211. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.
Autism research : official journal of the International Society for Autism Research, 2017 · doi:10.1002/aur.1662