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Published VersionCC BY V4.0, Open Access
Journal article
The Abundance of Harmful Rare Homozygous Variants in Children of Consanguineous Parents
Biology , Vol.14(3), pp.1-11
2025
PMID: 40136566
Abstract
The children born of consanguineous union were found to have a higher incidence of recessive genetic diseases than the offspring of unrelated parents. The reason for this was predicted to be the presence of more deleterious rare homozygous genetic variants in the former compared to the latter. However, the magnitude of this difference is unknown. Using more than 2500 whole genomes, we show here that the individuals born of the union between double (paternal and maternal) first cousins had 20 times more deleterious rare homozygous single nucleotide variants (SNVs) than those who had unrelated parents. Furthermore, the children of first cousins had 10 times, and the children of second cousins had two times more of these SNVs compared to those present in the offspring of unrelated parents. Similar magnitudes of differences were found for the nonsynonymous deleterious rare homozygous SNVs (19, 10, and 2 times, respectively). In contrast, the differences in the number of deleterious low-frequency and common homozygous variants between the children of cousins and those of unrelated parents were 1-3 times and 1-7%, respectively. These results suggest that the offspring of consanguineous union could have a 20 times higher risk of recessive autosomal diseases caused by rare variants. Conversely, consanguinity appears to have little effect on the risk of common diseases. These findings have implications for future clinical research in identifying genetic variants associated with inherited diseases. Furthermore, the magnitude of the elevated risk revealed in this study could be useful in genetic counseling and for public health in creating awareness.
Details
- Title
- The Abundance of Harmful Rare Homozygous Variants in Children of Consanguineous Parents
- Authors
- Sankar Subramanian (Corresponding Author) - University of the Sunshine Coast, Queensland, School of Science, Technology and Engineering
- Publication details
- Biology , Vol.14(3), pp.1-11
- Publisher
- MDPI AG
- Date published
- 2025
- DOI
- 10.3390/biology14030310
- ISSN
- 2079-7737
- PMID
- 40136566
- Copyright note
- © 2025 by the author. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
- Data Availability
- The genome data and kinship information used in this study are available from Auton et al. (2015) [25] and Gazal et al. (2015) [24], respectively. The estimates generated in the current study are available from the corresponding author on request.
- Organisation Unit
- School of Science, Technology and Engineering; Centre for Bioinnovation
- Language
- English
- Record Identifier
- 991127099302621
- Output Type
- Journal article
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