Autism is a common, severe and highly heritable neurodevelopmental disorder in children, affecting up to 100 children per 10,000. The MET gene has been regarded as a promising candidate gene for this disorder because it is located within a replicated linkage interval, is involved in pathways affecting the development of the cerebral cortex and cerebellum relevant to autism patients, and has shown significant association signals in previous studies.
To replicate the association of MET variants (rs1858830 and rs38845) with Chinese Han population with autism.
Case-control analysis is used for the association study by comparing allelic and genotypic distributions of individuals with ASD to a group of autism-free controls. Chi-square test and Relative Risk are used to estimate the association of SNPs and ASD. Family-based study was performed applying the transmission disequilibrium test (TDT) by comparing the transmitted allele and the non-transmitted allele from a heterozygous parent to the affected child. Haploview software version 4.2 was used in TDT analysis and Chi-square was used to estimate the association.
Here, we present new ASD patient and control samples from Heilongjiang, China and use them in a case-control and family-based replication study of two MET variants. One SNP, rs1858830, showed very little variation in China, but we successfully replicated the other, rs38845, in the case-control association (RR = 1.13, P = 0.019). We failed to replicate the association in a family-based study due to small sample size.
This is the first attempt to replicate associations in Chinese autism samples, and our result provides evidence that MET variants may be relevant to autism susceptibility in the Chinese Han population.