The DOI matches its Crossref record; 85 of the 85 references it cites were found in a registry or an index.
Schizophrenia: a common disease caused by multiple rare alleles
Open accessAbstract
Summary: Schizophrenia is widely held to stem from the combined effects of multiple common polymorphisms, each with a small impact on disease risk. We suggest an alternative view: that schizophrenia is highly heterogeneous genetically and that many predisposing mutations are highly penetrant and individually rare, even specific to single cases or families. This ‘common disease – rare alleles' hypothesis is supported by recent findings in human genomics and by allelic and locus heterogeneity for other complex traits. We review the implications of this model for gene discovery research in schizophrenia.
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“The notion is that a disease such as schizophrenia is actually a collection of hundreds, or possibly even thousands, of similar conditions attributable to rare variants at individual loci18.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [18]
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Cited by
Sorted by citations
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821
Visscher, P. M., Brown, M. A., McCarthy, M. I., & Yang, J. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.029 · Cited by 2,425
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800
Self-citationDe novo mutations in schizophrenia implicate synaptic networks
Fromer, M., Pocklington, A. J., Kavanagh, D. H., Williams, H. J., Dwyer, S., Gormley, P., Georgieva, L., Rees, E., Palta, P., Ruderfer, D. M., et al. (2014) · Nature · doi:10.1038/nature12929 · Cited by 1,617
Rare and common variants: twenty arguments
Gibson, G. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3118 · Cited by 1,278
Metadata
- Authors
- McClellan, J. M., Susser, E., & King, M.-C.
- Affiliations
- University of Washington (US)
- New York State Psychiatric Institute (US)
- Corresponding author
- McClellan, Jon M.
- Venue
- British Journal of Psychiatry
- Publisher
- Royal College of Psychiatrists
- Published
- 2007-03
- Volume
- 190
- Issue
- 3
- Pages
- 194-199
- ISSN
- 0007-1250 (ISSN-L)
- 1472-1465
- OpenAlex
- W2114381854
- Cited by
- 296
- References
- 85
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 5 · 2023: 2 · 2022: 6 · 2021: 7 · 2020: 10 · 2019: 7 · 2018: 1 · 2017: 7 · 2016: 13 · 2015: 14 · 2014: 16 · 2013: 24 · 2012: 23
- FWCI
- 5.58
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The British Journal of Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5k20mh001120-05)
- National Institute of Mental Health (MH 01120)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- schizophrenia, genetic heterogeneity, locus heterogeneity, allelic heterogeneity, rare mutations, penetrance, genetic susceptibility, gene discovery, complex traits
- MeSH terms
- Alleles, Humans, Genetic Linkage, Mutation, Nerve Tissue Proteins, Polymorphism, Genetic, RNA, Messenger, Schizophrenia, Genome, Human, Genetic Predisposition to Disease, Biomedical Research, RNA, Long Noncoding
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