ReviewJournal of applied genetics2014
The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review.
Review in Journal of applied genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Epigenome association study for DNA methylation biomarkers in buccal and monocyte cells for female rheumatoid arthritis.Scientific reports · 2021Article
- Do GWAS and studies of heterozygotes for NPC1 and/or NPC2 explain why NPC disease cases are so rare?Journal of applied genetics · 2018Review
- Genetic disease in India and the West compared: provisional analysis of population dynamics.Journal of genetics · 2018Article
- Distance from sub-Saharan Africa predicts mutational load in diverse human genomes.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Estimating the mutation load in human genomes.Nature reviews. Genetics · 2015Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A survey of a select panel of 14 genetic diseases with mixed inheritance confirms that, while autosomal recessive (AR) disease genes are more numerous than autosomal dominant (AD) or X-linked (XL) ones, they make a smaller average contribution to disease. Data collected from N-ethyl-N-nitrosourea (ENU) mutagenesis studies show a similar excess of AR mutations. The smaller AR contribution may partially reflect disease severity, but only in the comparison of AR with AD mutations. On the contrary, XL mutations for the 14 diseases are generally more severe. Genome-wide associations studies (GWAS) data provide fresh insight into the shortage, with a limited negative selection effect mediated by the pleiotropic expression of recessive disease genes in other deleterious phenotypes. Genomic data provide further evidence of purging selection in a past European population bottleneck followed by a dramatic population explosion, now more clearly associated with past climate change. We consider these likely to be the main factors responsible for the low AR to AD/XL inheritance ratio.
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Registered trials
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