Researchers from the University of Miami Hussman Institute of Human Genomics reported a new autism-associated variant that they detected in a Wnt signaling pathway gene through an association study focused exclusively on the X chromosome. An X-chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.
The team brought together data from three past genome-wide association studies — two studies based on data for individuals from autism-affected families and one case-control study — to look for genetic ties to autism on the X chromosome. After doing a few different types of analyses, the team found an association between autism and a variant in the transducin beta-like 1X-linked gene TBL1X. “The gene is interesting because it is involved in the Wnt signaling pathway,” the study’s first author Ren-Hua Chung, director of the statistical genetics division at the University of Miami’s John P. Hussman Institute for Human Genomics, told GenomeWeb Daily News. “Genes in that pathway have been found to be associated with autism before. But this specific gene, TBL1X, has not been reported to be associated with autism.”