Linda Geddes in Nature:
Brain conditions such as schizophrenia and autism spectrum disorder have long been known to have an inherited component, but pinpointing how gene variants contribute to disease has been a major challenge. Now, some of the first findings from the most comprehensive genomic analysis of the human brain ever undertaken are shedding light on the roots of these disorders. Among the discoveries are elements buried in the genome’s ‘dark matter’ that seem to regulate gene expression. Researchers have also uncovered previously unidentified networks of genes and the buried elements, which might contribute to the chances of developing such disorders.
…Unlike disorders caused by mutations in a single gene — such as cystic fibrosis or some types of muscular dystrophy — neuropsychiatric disorders including schizophrenia involve hundreds of genes that interact with environmental factors. Each gene contributes only a small amount to the overall disease risk2. Over the past decade, scientists have identified numerous genetic variants that are associated with such disorders. But in many cases, it is not clear how the sequence changes alter gene function — if at all.