Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder.
A MET gene link to autism held in one group but vanished in another, so population background can change genetic risk scores.
01Research in Context
What this study did
The team looked at the MET gene in two groups of kids. One group came from South Carolina. The other came from Italy.
They wanted to see if the C version of rs1858830 was more common in kids with autism.
What they found
In South Carolina, kids with autism did carry the C version more often. The link was strong.
In Italy, the same link did not show up. The result was flat.
So the same gene marker worked in one place but not the other.
How this fits with other research
Heslop et al. (2007) tried to repeat an earlier family finding and also got mixed results. Both papers show that autism genetics can look different from one sample to the next.
Saghazadeh et al. (2017) pooled 20 blood studies and found a different marker, BDNF, that stayed steady across groups. Their work hints that some biomarkers travel better across people than others.
Airoldi et al. (2025) explains new math tools that can pull together gene, protein, and brain data. These tools may soon tell us why the MET signal fades in Italy but holds in South Carolina.
Why it matters
When you read genetic reports for families, remember that a "risk gene" may not show up in every background. Ask the lab which population their data came from. If the child’s ancestry differs, take the result with extra caution.
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02At a glance
03Original abstract
Previous studies in three independent cohorts have shown that the rs1858830 C allele variant in the promoter region of the MET gene on chromosome 7q31 is associated with autism. Another study has found correlations between other alterations in the MET gene and autism in two unrelated cohorts. This study screened two cohorts, an Autistic Disorder cohort from South Carolina and a Pervasive Developmental Disorder (PDD) cohort from Italy, for the presence of the C allele variant in rs1858830. A significant increase in the C allele variant frequency was found in the South Carolina Autistic Disorder patients as compared to South Carolina Controls (chi(2)=5.8, df=1, P=0.02). In the South Carolina cohort, a significant association with Autistic Disorder was found when comparing the CC and CG genotypes to the GG genotype (odds ratio (OR)=1.64; 95% confidence interval (CI)=1.12-2.40; chi(2)=6.5, df=1, P=0.01) in cases and controls. In the Italian cohort, no significant association with PDD was found when comparing the CC or CG genotype to the GG genotype (OR=1.20; 95% CI=0.56-2.56; chi(2)=0.2, df=1, P=0.64). This study is the third independent study to find the rs1858830 C variant in the MET gene promoter to be associated with autism.
Autism research : official journal of the International Society for Autism Research, 2009 · doi:10.1002/aur.87