The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects.
Where this comes from
- Record sourced from PubMed, PMID 33740458.
- Also identified by DOI 10.1016/j.ajhg.2021.03.004 and PMC identifier 8059335.
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Abstract
The number and distribution of recessive alleles in the population for various diseases are not known at genome-wide-scale. Based on 6,447 exome sequences of healthy, genetically unrelated Europeans of two distinct ancestries, we estimate that every individual is a carrier of at least 2 pathogenic variants in currently known autosomal-recessive (AR) genes and that 0.8%-1% of European couples are at risk of having a child affected with a severe AR genetic disorder. This risk is 16.5-fold higher for first cousins but is significantly more increased for skeletal disorders and intellectual disabilities due to their distinct genetic architecture.
Medical subject headings
- Consanguinity
- Family Characteristics
- Genes, Recessive
- Genetic Variation
- Phenotype
- White People