Association of Distal-less Homeobox (DLX) Genes and Autism: Independent and Interactive Effects of single SNPs and Haplotypes
Massachusetts General Hospital
Several lines of research indicate that a family of genes called Distal-less Homeobox (DLX) genes may be important in autism spectrum disorders (ASDs). These genes encode transcription factors which are necessary for the process of reading the DNA code into synthesis of proteins. Mutations of DLX genes have been associated with autism spectrum disorders, and are important in the development of brain regions such as the amygdala which have been implicated in the neuropathology and behavioral features of ASD. This pre-doctoral fellowship will allow Ms. Chang to apply her experience in the molecular epidemiology of cancer to autism research by investigating the role of all 6 genes in DLX family in ASD. She and Dr. Santangelo will use genetic information collected from over 550 families available through the Autism Genetic Research Exchange (AGRE) repository. Using state-of-the-art genetic scanning techniques to analyze the chromosomal regions containing all six DLX genes together, identification of risk alleles and gene-gene interactions can be studied. By thoroughly characterizing common genetic variation in the DLX gene family, the researchers can provide a better understanding of the potential influence of DLX genes on autism risk. What this means for people with autism: This study provides a solid training plan to provide the fellow experience to continue a career in autism research. The study will enrich the understanding of the role of these genes in autism spectrum disorders, including how genes interact with each other to produce symptoms of ASD.