Gene Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism
A study published in PLoS ONE conducted CNV analysis on Autism patients [van der Zwaag et al., 2009]. While there are other similar analyses, the noteworthy points in this one are:
- In addition to the control group, the patients are divided into two groups, complex-autism group where patients have both autism and other neurological disorders, and non-complex-autism group.
- Significant CNVs were inferred between the non-complex and control group.
- Among genes located in those CNVs, there is an over-representation of those involved in glycosylation.
- Similar findings are also present in autism related loci published by others.
Their conclusion is that there is an over-representation of genes related to glycobiology in those CNV regions. It is well known that mutations in genes for glycosylation can cause severe congenital disorders. Their research suggests that dosage alterations in these genes could contribute to the phenotypic anomalies, such as autism.
van der Zwaag B, Franke L, Poot M, Hochstenbach R, Spierenburg HA, et al. (2009) Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism. PLoS ONE 4(5): e5324.