Pedigree tests of transmission disequilibrium.
paper
Cited
Public
Unavailable
- Authors
- Abecasis, G R; Cookson, W O; Cardon, L R
- Year
- 2000
- Journal
- European journal of human genetics : EJHG
- PMID
- 10909856
- DOI
- 10.1038/sj.ejhg.5200494
High-resolution mapping is essential for the positional cloning of complex disease genes. In outbred populations, linkage disequilibrium is expected to extend for short distances and could provide a powerful fine-mapping tool. Current family-based association tests use nuclear family members to define allelic transmission and controls, but ignore other types of relatives. Here we construct a general approach for scoring allelic transmission that accommodates families of any size and uses all available genotypic information. Family data allows for the construction of an expected genotype for every non-founder, and orthogonal deviates from this expectation are a measure of allelic transmission. These allelic transmission scores can be used to extend previously described tests of linkage disequilibrium for dichotomous or quantitative traits. Some of these tests are illustrated, together with a permutation framework for estimating exact significance levels. Simulation studies are used to investigate power and error rates of the approach. As a practical application, the method is used to investigate the relationship between circulating angiotensin-1 converting enzyme (ACE) levels and polymorphisms in the ACE gene using previously published data.
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| Genetic variation in the 22q11 locus and susceptibility to schizophrenia. | Liu H et al. | β | 2002 | β |
| Lack of association between a polymorphism in the interleukin-13 gene and total serum immunoglobulin E level among nuclear families in Costa Rica. | CeledΓ³n JC et al. | β | 2002 | β |
| Tests of linkage and/or association of genes for vitamin D receptor, osteocalcin, and parathyroid hormone with bone mineral density. | Deng HW et al. | β | 2002 | β |
| Unified sampling approach for multipoint linkage disequilibrium mapping of qualitative and quantitative traits. | Hsu FC et al. | β | 2002 | β |
| Allelic association with SNPs: metrics, populations, and the linkage disequilibrium map. | Collins A et al. | β | 2001 | β |
| Association analysis in a variance components framework. | Abecasis GR et al. | β | 2001 | β |
| Association study designs for complex diseases. | Cardon LR et al. | β | 2001 | β |
| Combined linkage and association analysis in pedigrees. | Siegmund KD et al. | β | 2001 | β |
| Correcting for a potential bias in the pedigree disequilibrium test. | Martin ER et al. | β | 2001 | β |
| Joint tests of linkage and association for quantitative traits. | Allison DB et al. | β | 2001 | β |
| Power calculations for a general class of tests of linkage and association that use nuclear families with affected and unaffected sibs. | Kaplan NL et al. | β | 2001 | β |
| The impact of genotyping error on family-based analysis of quantitative traits. | Abecasis GR et al. | β | 2001 | β |
| The power to detect linkage disequilibrium with quantitative traits in selected samples. | Abecasis GR et al. | β | 2001 | β |