ArticleCurrent biology : CB2008
Natural selection on genes that underlie human disease susceptibility.
Article in Current biology : CB, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 143 papers, 2 of them syntheses that pooled it.
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Who cites it
143 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.Nature genetics · 2018Pooled it
- Evolutionary meta-analysis of association studies reveals ancient constraints affecting disease marker discovery.Molecular biology and evolution · 2012Pooled it
- Allele frequencies at recessive disease genes are mainly determined by pleiotropic effects in heterozygotes.Genetics · 2026Article
- Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility.American journal of human genetics · 2026Article
- Disordered but Different: Functional and Evolutionary Divergence of Transcription Factor Intrinsically Disordered Regions.bioRxiv : the preprint server for biology · 2026Article
- Retrotransposition Events Shape the Evolution of the Ataxin-3 Gene Family in Primates.Genome biology and evolution · 2026Article
- The Influence of Demographic History and Genetic Architecture on Complex Traits via Runs of Homozygosity.bioRxiv : the preprint server for biology · 2025Article
- Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in Heterozygotes.bioRxiv : the preprint server for biology · 2025Article
- Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.American journal of human genetics · 2025Article
- Article
- The distribution of highly deleterious variants across human ancestry groups.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis.Genetic epidemiology · 2025Article
- Ensemble and consensus approaches to prediction of recessive inheritance for missense variants in human disease.Cell reports methods · 2024Article
- Genetics and Traumatic Brain Injury: Findings from an Exome-Based Study of a 50-Patient Case Series.Current issues in molecular biology · 2024Article
- Ancestry-specific high-risk gene variant profiling unmasks diabetes-associated genes.Human molecular genetics · 2024Article
- Regulatory features aid interpretation of 3'UTR variants.American journal of human genetics · 2024Article
- Unveiling recent and ongoing adaptive selection in human populations.PLoS biology · 2024Article
- Timesweeper: accurately identifying selective sweeps using population genomic time series.Genetics · 2023Article
- Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub.Nature communications · 2023Article
- Random allelic expression in the adult human body.Cell reports · 2023Article
83 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors.
Funding
Abstract
What evolutionary forces shape genes that contribute to the risk of human disease? Do similar selective pressures act on alleles that underlie simple versus complex disorders [1-3]? Answers to these questions will shed light onto the origin of human disorders (e.g., [4]) and help to predict the population frequencies of alleles that contribute to disease risk, with important implications for the efficient design of mapping studies [5-7]. As a first step toward addressing these questions, we created a hand-curated version of the Mendelian Inheritance in Man database (OMIM). We then examined selective pressures on Mendelian-disease genes, genes that contribute to complex-disease risk, and genes known to be essential in mouse by analyzing patterns of human polymorphism and of divergence between human and rhesus macaque. We found that Mendelian-disease genes appear to be under widespread purifying selection, especially when the disease mutations are dominant (rather than recessive). In contrast, the class of genes that influence complex-disease risk shows little signs of evolutionary conservation, possibly because this category includes targets of both purifying and positive selection.
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