Study on NRG1 Variant and Autism in Costa Rica
Author Information
Author(s): McInnes Lynne A, Ouchanov Leonid, Nakamine Alisa, Jimenez Patricia, Esquivel Marcela, Fallas Marietha, Monge Silvia, Bondy Pamela, Manghi Elina R
Primary Institution: Mount Sinai School of Medicine
Hypothesis
Is the NRG1 exon 11 missense variant associated with autism in the Central Valley of Costa Rica?
Conclusion
The NRG1 exon 11 missense variant is not associated with autism in the CVCR.
Supporting Evidence
- The NRG1 exon 11 G>T variant was found in only 4 out of 146 autism cases.
- The frequency of the variant in case chromosomes was 0.014.
- At least 6 haplotypes were associated with the T allele.
Takeaway
The study looked at a genetic change in a gene called NRG1 to see if it was linked to autism, but they found it wasn't.
Methodology
Genotyping of the NRG1 exon 11 missense variant in 146 autism cases and their parents, along with haplotype analysis.
Limitations
The study was limited to a specific population and may not be generalizable to other populations.
Participant Demographics
Participants were from the Central Valley of Costa Rica, with a mean age of 5.75 years, including 16 females.
Digital Object Identifier (DOI)
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