The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Detecting Disease Associations due to Linkage Disequilibrium Using Haplotype Tags: A Class of Tests and the Determinants of Statistical Power
Abstract
In the ‘indirect’ method of detecting genetic associations between a trait and a DNA variant, we type several markers in a gene or chromosome region of linkage disequilibrium. If there is association between markers and the trait, we presume the existence of one or more causal polymorphisms in the region. In order to obtain a sufficiently dense set of markers it will almost always be necessary to use single nucleotide polymorphisms (SNPs). Although there is an emerging literature on methods for choosing an optimal set of ‘haplotype tag SNPs’ (htSNPs) to detect association between a genetic region and a trait, less attention has been given to the problem of how such studies should be analysed when completed, and how the initial data which was used to select the htSNPs should be incorporated into the analysis. This paper discusses this problem for both population – and family-based association studies. The role of the R2 measure of association between a causal locus and various methods of scoring of marker haplotypes is highlighted. In most cases, the simplest method of scoring (locus coding), which does not require phase resolution, is shown generally to be more powerful than scoring methods that include haplotype information. A new ‘multi-locus TDT’ is also proposed.
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Cites
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Cited by
A haplotype map of the human genome
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A second generation human haplotype map of over 3.1 million SNPs
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Self-citationRobust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
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Genetic architecture: the shape of the genetic contribution to human traits and disease
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Metadata
- Authors
- Chapman, J. M., Cooper, J. D., Todd, J. A., & Clayton, D. G.
- Venue
- Human Heredity
- Publisher
- S. Karger AG
- Published
- 2003
- Volume
- 56
- Issue
- 1-3
- Pages
- 18-31
- ISSN
- 0001-5652 (ISSN-L)
- 1423-0062
- OpenAlex
- W1971771243
- Cited by
- 419
- References
- 4
- FWCI
- 25.45
- Type
- journal article
- Language
- en
- Open access
- closed
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