Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease
Abstract
The past two decades have witnessed an explosion in the identification, largely by positional cloning, of genes associated with mendelian diseases. The roughly 1,200 genes that have been characterized have clarified our understanding of the molecular basis of human genetic disease. The principles derived from these successes should be applied now to strategies aimed at finding the considerably more elusive genes that underlie complex disease phenotypes. The distribution of types of mutation in mendelian disease genes argues for serious consideration of the early application of a genomic-scale sequence-based approach to association studies and against complete reliance on a positional cloning approach based on a map of anonymous single nucleotide polymorphism haplotypes.
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The common disease-common variant hypothesis has been refuted by the missing heritability problem.
“When GWAS began the field was dominated by the simple common disease-common variant (CD-CV) hypothesis1–4 has been refuted in light of the so-called ‘missing heritability problem’”
From Rare and common variants: twenty arguments (2012) · cites this paper as [4]
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- Authors
- Botstein, D., & Risch, N.
- Affiliations
- Stanford Medicine (US)
- Kaiser Permanente (US)
- Corresponding author
- Botstein, David
- Venue
- Nature Genetics
- Published
- 2003-03
- Volume
- 33
- Issue
- S3
- Pages
- 228-237
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1985849948
- Cited by
- 1,503
- References
- 81
- Citations by year
- 2026: 4 · 2025: 11 · 2024: 20 · 2023: 24 · 2022: 17 · 2021: 29 · 2020: 44 · 2019: 46 · 2018: 47 · 2017: 54 · 2016: 36 · 2015: 58 · 2014: 61 · 2013: 83 · 2012: 72
- FWCI
- 15.86
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion, public-domain)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- genotype-phenotype correlation, complex diseases, monogenic disorders, positional cloning, single nucleotide polymorphisms, haplotype mapping, mutation spectrum, association studies, gene mapping
- MeSH terms
- Alleles, Chromosome Mapping, Cloning, Molecular, Genotype, Humans, Mutation, Phenotype, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Genomics, Genetic Diseases, Inborn, History, 20th Century, History, 21st Century
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