Significant autism susceptibility added to growing list of things we’ve inherited from Neanderthals

Amazing stuff! At least this seems to defeat claims that disorders like autism are of modern origin.

"We know that present-day European and Asian-derived humans have inherited between 1.5% and 4% of Neanderthal DNA, but how does that seemingly small amount of ancient genetic material impact modern physical and mental health? ...
However, genome analysis has shown that they interbred, albeit on a limited scale. ..."

"... Fourteen years ago, the first whole-genome sequence of the Neanderthal genome was published after scientists extracted DNA from the bones of three female Neanderthals that were discovered in a cave in Croatia. ...

Since then, scientists have associated Neanderthal DNA to several human health conditions, including autoimmune diseases, prostate cancer, Type 2 diabetes, skull morphology, depression and protection against schizophrenia. ..."

From the abstract:

"Homo sapiens and Neanderthals underwent hybridization during the Middle/Upper Paleolithic age, culminating in retention of small amounts of Neanderthal-derived DNA in the modern human genome. In the current study, we address the potential roles Neanderthal single nucleotide polymorphisms (SNP) may be playing in autism susceptibility in samples of black non-Hispanic, white Hispanic, and white non-Hispanic people using data from the Simons Foundation Powering Autism Research (SPARK), Genotype-Tissue Expression (GTEx), and 1000 Genomes (1000G) databases. We have discovered that rare variants are significantly enriched in autistic probands compared to race-matched controls. In addition, we have identified 25 rare and common SNPs that are significantly enriched in autism on different ethnic backgrounds, some of which show significant clinical associations. We have also identified other SNPs that share more specific genotype-phenotype correlations but which are not necessarily enriched in autism and yet may nevertheless play roles in comorbid phenotype expression (e.g., intellectual disability, epilepsy, and language regression). These results strongly suggest Neanderthal-derived DNA is playing a significant role in autism susceptibility across major populations in the United States."

Autism added to growing list of things we’ve inherited from Neanderthals Since Neanderthals' whole genome was sequenced, there’s been growing interest in how their genetics influences our health. New research has found that genetic variations derived from our ancient relatives are associated with an increased susceptibility to autism.

Study implicates Neanderthal DNA in autism susceptibility (original news release)

Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings

Fig. 1: Group Comparison of SNP Frequencies and Quantitative Trait Loci (QTL) Network.