rs1858830

rs1858830, located in promoter of the MET gene, was originally reported in 2006 as being linked to a 2x increase in the risk of autism based on a study of ~700 families. From OMIM 164860: "In case-control analysis, the relative risk for autism was 2.27 for the CC genotype and 1.67 for the GC genotype compared to the GG genotype." However, since 2006, there have been several studies unable to replicate this association, as well as some replicating the finding, at least to varying degrees. These include: * Those replicating to some degree the association with autism: ** : 2008 study with 100 families, from the same group that published the original 2006 association ** : 2009 study, reports odds ratio of 1.64 for C allele for autism association * Those finding no association of rs1858830 to autism: ** : 2009 study with 300+ families ** : 2010 study of 126 Japanese families ** : 2011 study of Chinese families The association of rs1858830 in the MET gene with autism failed to replicate in 325 multiplex families and 10 trios of the International Molecular Genetic Study of Autism Consortium (IMGSAC), although another MET SNP did associate with autism (rs38845) Disruption of cerebral cortex MET signaling in autism spectrum disorder. Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditions. Association of genetic variation in the MET proto-oncogene with schizophrenia and general cognitive ability. Further evidence for the role of MET in autism susceptibility.

C;C

In some studies, but not others, the C allele appears to increase risk of autism by an odds ratio of about 1.8x; see discussion at rs1858830.

C;G

In some studies, but not others, the C allele appears to increase risk of autism by an odds ratio of about 1.8x; see discussion at rs1858830.