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

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Pauly, R., Johnson, L., Feltus, F. A., & Casanova, E. (2024). Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings. Molecular Psychiatry, 29(11), 3452-3461. https://doi.org/10.1038/s41380-024-02593-7

Publication date: 17 May 2024 Added to AutiHub: 14 Sep 2026 Type: Article Article language: English
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Publication authors
4
Publication authors identified as autistic
1 / 4 (25.0%)
  1. Rini Pauly
  2. Layla Johnson
  3. Frank Alex Feltus
  4. Emily L. Casanova *

Abstract

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.

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56
With a DOI
53
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3
2 / 56 (3.6%) cited references include at least one author identified as autistic.
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3 / 56 (5.4%)
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53 / 56 (94.6%)
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3
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3
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3
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3
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0
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Author names detected in the cited bibliography
1862
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0
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0
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5
19 / 1862 (1.0%) names are linked to an author already present in AutiHub. 1843 / 1862 (99.0%) names are not yet linked.
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Calculated across all author names detected in the cited bibliography. Among names linked to an author already present in AutiHub: 2 / 19 (10.5%). Distinct people identified as autistic: 2 / 1375 (0.1%).
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