The Future of Genetic Studies of Complex Human Diseases
Abstract
The identification of the genetic basis of complex human diseases such as schizophrenia and diabetes has proven difficult. In their Perspective, Risch and Merikangas propose that we can best accomplish this goal by combining the power of the human genome project with association studies, a method for determining the basis of a genetic disease.
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Linkage analyses in extended multiple sclerosis affected families validated the HLA association but showed no significant linkage to loci outside the MHC.
“These validated the HLA association but showed no significant linkage to loci outside the MHC.”
From Genome‐wide association studies of multiple sclerosis (2018) · cites this paper as [27]
Recognition that association-based methods might have greater traction for identifying less penetrant common alleles redirected attention to analysis of case-control samples.
“Recognition that association-based methods, focused on detecting phenotype-related differences in variant allele frequencies might have greater traction for identifying less penetrant common alleles redirected attention to analysis of case–control samples37.”
From A brief history of human disease genetics (2020) · cites this paper as [37]
The historical division of disease-gene discovery into monogenic and polygenic strands arose from analytical approaches best suited for detecting particular subsets of causal alleles.
“The historical division of disease-gene discovery into monogenic and polygenic strands arose from development and implementation of analytical approaches–family-based linkage and case–control association37–that are best-suited for detecting particular subsets of causal alleles.”
From A brief history of human disease genetics (2020) · cites this paper as [37]
Linkage analysis is poorly powered for complex traits.
“Linkage analysis is poorly powered for complex traits (Risch and Merikangas, 1996).”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Risch and Merikangas, 1996
Not all approaches to linkage analysis are very powerful, especially non-parametric approaches involving small families.
“However, not all approaches to linkage analysis are very powerful, and this is especially true for non-parametric approaches involving small families69, 70, although transmission/disequilibrium tests may have merit in the analysis of rare variants.71”
From Statistical analysis strategies for association studies involving rare variants (2010) · cites this paper as [70]
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McCracken, J. T., Smalley, S. L., McGough, J. J., Crawford, L., Del'Homme, M., Cantor, R. M., Liu, A., & Nelson, S. F. (2000) · Molecular Psychiatry · doi:10.1038/sj.mp.4000770 · Cited by 189 · see citing works
Once and Again—Issues Surrounding Replication in Genetic Association Studies
Hirschhorn, J. N., & Altshuler, D. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021329 · Cited by 181 · see citing works
Swaroop, A., Branham, K. E., Chen, W., & Abecasis, G. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm212 · Cited by 173 · see citing works
The genetics of child psychiatric disorders: focus on autism and Tourette syndrome
State, M. W. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.004 · Cited by 162 · see citing works
Mansour, H. A., Talkowski, M. E., Wood, J., Chowdari, K. V., McClain, L., Prasad, K., Montrose, D., Fagiolini, A., Friedman, E. S., Allen, M. H., et al. (2009) · Bipolar Disorders · doi:10.1111/j.1399-5618.2009.00756.x · Cited by 161 · see citing works
- Authors
- Risch, N., & Merikangas, K.
- Affiliations
- Stanford Medicine (US)
- Yale University (US)
- Venue
- Science
- Published
- 1996-09-13
- Volume
- 273
- Issue
- 5281
- Pages
- 1516-1517
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2042103448
- Cited by
- 5,355
- References
- 4
- Citations by year
- 2026: 41 · 2025: 46 · 2024: 73 · 2023: 74 · 2022: 66 · 2021: 70 · 2020: 85 · 2019: 108 · 2018: 92 · 2017: 108 · 2016: 116 · 2015: 114 · 2014: 149 · 2013: 162 · 2012: 190
- FWCI
- 92.45
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- 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 › Forensic and Genetic Research
- Keywords
- complex diseases, genetic susceptibility, schizophrenia, diabetes mellitus, genome-wide association study, Human Genome Project, genetic basis of disease
- MeSH terms
- Alleles, Genetic Techniques, Genotype, Heterozygote, Humans, Genetic Linkage, Polymorphism, Genetic, Probability, Genome, Human, Genetic Predisposition to Disease, Genetic Diseases, Inborn
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