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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Pritchard, J. K. |
| Description | Country affiliation: United kingdom Author Affiliation: Pritchard JK ( Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1-3TG, United Kingdom. pritch@stats.ox.ac.uk) |
| Abstract | Little is known about the nature of genetic variation underlying complex diseases in humans. One popular view proposes that mapping efforts should focus on identification of susceptibility mutations that are relatively old and at high frequency. It is generally assumed-at least for modeling purposes-that selection against complex disease mutations is so weak that it can be ignored. In this article, I propose an explicit model for the evolution of complex disease loci, incorporating mutation, random genetic drift, and the possibility of purifying selection against susceptibility mutations. I show that, for the most plausible range of mutation rates, neutral susceptibility alleles are unlikely to be at intermediate frequencies and contribute little to the overall genetic variance for the disease. Instead, it seems likely that the bulk of genetic variance underlying diseases is due to loci where susceptibility mutations are mildly deleterious and where there is a high overall mutation rate to the susceptible class. At such loci, the total frequency of susceptibility mutations may be quite high, but there is likely to be extensive allelic heterogeneity at many of these loci. I discuss some practical implications of these results for gene mapping efforts. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 1 |
| Volume Number | 69 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 2001-07-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Gene Frequency Genetics Genetic Diseases, Inborn Genetic Predisposition To Disease Models, Genetic Mutation Selection, Genetic Alleles Chromosome Mapping Computer Simulation Genetic Heterogeneity Genetic Linkage Genetic Variation Mutagenesis Pedigree Phenotype Polymorphism, Genetic Probability Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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