American psychologists from Clemson University and Loyola University studied the influence of inherited Neanderthal DNA on the occurrence of autism spectrum disorders (ASD). The study was published in the scientific journal magazine Molecular Psychiatry (MP).
Homo neanderthalensis or Neanderthals are humans’ closest relatives in the hominid tree of life. It is estimated that populations of European and Asian descent contain approximately 2% Neanderthal DNA. It turned out that this was the result of hybridization between species between 47,000 and 65,000 years ago.
Autism is a neurological disorder characterized by problems with social interaction, communication, repetitive behaviors or restricted interests.
The research team used whole exome sequencing (WES) data, focusing specifically on people with autism and their unaffected close relatives.
The team compared these groups with individuals in the Genotype-Tissue Expression (GTEx) and 1000 Genomes (1000G) databases. Specifically, scientists studied single nucleotide polymorphisms (SNPs), which are derived from Neanderthals and represent variations in a single DNA building block.
The analysis found that autistic people had a higher prevalence of rare Neanderthal-derived genetic variants compared with non-autistic controls.
These rare traits, which occur in less than 1% of the population, are significantly enriched in the genomes of people with ASD from three major ethnic groups: African-American blacks, Hispanic whites, and non-Hispanic whites.
Researchers also identified specific clinical associations between Neanderthal variants and autism-related traits. For example, a specific SNP (rs112406029) in the SLC37A1 gene was significantly associated with epilepsy in non-Hispanic autistic whites. This variant was more common in autistic people with epilepsy than in people without epilepsy, and even more common in people with a family history of the condition.
According to scientists, the study results have important implications for understanding autism and its genetic basis.
Previous researchers I learnedWhen the ancestors of modern humans began interbreeding with Neanderthals.
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Source: Gazeta
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