Genetic Variants in Autism Linked to 16p11.2 Region
Author Information
Author(s): Kumar Ravinesh A., Marshall Christian R., Badner Judith A., Babatz Timothy D., Mukamel Zohar, Aldinger Kimberly A., Sudi Jyotsna, Brune Camille W., Goh Gerald, KaraMohamed Samer, Sutcliffe James S., Cook Edwin H., Geschwind Daniel H., Dobyns William B., Scherer Stephen W., Christian Susan L.
Primary Institution: The University of Chicago
Hypothesis
Do common and rare genetic variants in the 16p11.2 region contribute to autism risk?
Conclusion
The study identified a potential genetic risk factor for autism in the SEZ6L2 gene, but further research is needed to confirm these findings.
Supporting Evidence
- The study identified 26 novel variants in autism, including 13 exonic and 13 promoter variants.
- A significant association was found between autism and a coding variant in the SEZ6L2 gene.
- The expression of SEZ6L2 was highest in specific brain regions during development.
- The study analyzed data from three different microarray platforms.
- No common variants were significantly associated with autism in the study.
- The findings suggest that deletion or duplication of multiple genes in the 16p11.2 region may be a more significant risk factor for autism.
Takeaway
Scientists looked at genes related to autism and found some changes that might be linked to the condition, but they need to do more tests to be sure.
Methodology
The study used association studies and resequencing of candidate genes in autism patients and controls.
Limitations
The study had a relatively small number of patients screened for rare variants.
Participant Demographics
Most subjects were of European descent.
Statistical Information
P-Value
0.018
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website