Association between single nucleotide polymorphisms in estrogen receptor 1/2 genes and symptomatic severity of autism spectrum disorder.
Two estrogen-receptor gene variants bump up social and emotional autism severity while leaving other domains untouched.
01Research in Context
What this study did
Scientists checked two tiny DNA spots in the estrogen receptor genes of kids with autism. They asked: do these spots predict how severe the child's symptoms are?
Each child got a full ADOS. Parents filled out the Social Responsiveness Scale. The team then matched gene types to scores in four areas: social, communication, repetitive acts, and emotional control.
What they found
One gene spot lined up with worse social-interaction scores. A different spot lined up with worse emotional-control scores. The other symptom areas showed no link to these genes.
The effects were small but clear. Having the 'risk' letter at each spot nudged the severity needle only for those two domains.
How this fits with other research
Palka Bayard de Volo et al. (2021) showed that every little autism trait is heritable in adults. That big picture makes it believable that single DNA letters can shape specific traits in kids.
Xia et al. (2020) scanned the whole genome in Han Chinese families and found no genome-wide hits. Their wide sweep missed these estrogen spots, showing that focused candidate-gene work can still find small signals the big scans overlook.
Burrows et al. (2018) meta-analysis proved that facial-expression problems are a real social marker in ASD. Hirokazu’s team now gives one possible genetic reason: an estrogen-receptor variant that tracks with social-interaction severity.
Why it matters
You can’t change genes, but you can choose targets. If a child carries the social-risk variant, pour extra hours into social-skills groups, peer modeling, and video feedback. If the emotional-risk variant shows up, prioritize emotion-regulation drills, coping-cat lessons, and precursors to CBT. The genes don’t dictate the plan—they just tell you where the child’s biggest hill is.
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02At a glance
03Original abstract
BACKGROUND: Previous studies on etiology of autism spectrum disorders (ASD) have shown strong contribution of hereditary factors. On the basis the heterogeneity in ASD symptoms, it is highly possible that each independent domain of ASD symptom is linked to a different set of genetic risk factors. However, few empirical investigations have been carried out to examine this hypothesis. AIMS: The aim of the present study was to investigate the association between single-nucleotide polymorphisms (SNPs) in estrogen receptor genes, which several previous studies have identified as potential risk factors of ASD, and the severity of each independent aspect of ASD symptom within an Asian clinical sample. METHOD AND PROCEDURES: We investigated the association between severities of four ASD symptoms (Social Communication, Social Interaction, Stereotypies and Sensory Abnormalities, and Emotional Regulation) measured by childhood autism rating scale and SNPs in genes of estrogen receptor 1 and 2, ESR1 rs11155819 and ESR2 rs1152582, in 96 Japanese individuals with ASD. OUTCOMES AND RESULTS: The analysis revealed that severities in the impairment of social interaction and emotional regulation were linked to SNPs in ESR1 rs11155819 and ESR2 rs1152582, respectively. The effect of genotype was not observed for the other aspects of ASD symptoms. CONCLUSIONS AND IMPLICATIONS: These findings support our contention that the severity of each ASD symptom domain is determined by a distinct set of genetic risk factors.
Research in developmental disabilities, 2018 · doi:10.1016/j.ridd.2018.02.014