All articles tagged with #rare genetic variants
A study identified three rare genetic variants significantly associated with ADHD, linking them to neuronal functions and brain development, and showed that these variants, along with common variants, contribute additively to the disorder's risk and impact socioeconomic outcomes.
Researchers at the Max Planck Institute have identified rare protein-altering genetic variants associated with left-handedness, shedding light on the inheritable nature of this trait. Using data from the UK Biobank, they found that microtubule-related genes, such as TUBB4B, may play a role in setting up brain asymmetries. Additionally, genes associated with autism, DSCAM and FOXP1, were linked to left-handedness, providing potential insights into conditions like autism and schizophrenia. The study highlights the complexity of handedness as a polygenic trait and paves the way for further exploration of brain asymmetry in embryonic development.
Scientists have identified two new genes, SRRM2 and AKAP11, linked to schizophrenia and discovered that a third gene, PCLO, previously known to be involved in the disorder may also play a role in autism. The genes were identified through a meta-analysis comparing gene sequences of 35,828 people with schizophrenia to 107,877 people without the condition. The study builds on a report published last year that identified 10 genes with rare variants that are directly tied to schizophrenia risk. The results could have significant implications for drug development.