Study Watch : A Genome-wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1

This is the second of two studies published last month that dealt with a potential discovery a generic risk factor for autism. This study was published in Annals of Human Genetics

A Genome-wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1

This study is looking for genetic risk factors for autism and to replicate an earlier finding of a relation between autism and the CNTNAP2 gene.

There were two data sets included in the study. The first was data from the Collaborative Autism Project (CAP) that included data from 1,537 subjects with autism from 487 families. The second data was from Autism Genetic Resource Exchange (AGRE) and included data on 3,512 individuals with autism from 680 families.

The authors looked for relations in both data sets individually and then jointly to attempt to find any associations with autism. Like the other study on the same topic there was no significant association in either data set alone but when taken together the results became more significant.

This study failed to replicate the association between the CNTNAP2 gene and autism.

I think the authors closing statement puts the the results of this study into the proper context -

Our results, in combination with the multiple rare variants already identified, suggest that the genetic architecture of autism is as exquisitely complex as is its clinical phenotype.

There are a few other things that I wanted to point out about this study as it relates to the other study. First and most importantly, the data sets used in this study (CAP and AGRE) were also included in the other study. Second, several of the authors on this study, including the principal authors, were also authors on the first study. So the findings of this study, while they confirm what the other study said about this data, are not really a separate finding of a relation.