Journal
GENETIC EPIDEMIOLOGY
Volume 27, Issue 3, Pages 240-251Publisher
WILEY
DOI: 10.1002/gepi.20019
Keywords
trisomy; association studies; Down syndrome; congenital heart defects
Funding
- NICHD NIH HHS [P01 HD24605, R01 HD38979] Funding Source: Medline
- NIGMS NIH HHS [T32 GM008490] Funding Source: Medline
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Many of the birth defects associated with trisomy exhibit both variable expressivity and incomplete penetrance. This variability suggests that it is allelic variation and not simply the presence of an additional chromosome that leads to the development of certain trisomy-associated birth defects. With the proper tools, one may use trisomic populations to identify genes involved in the development of specific birth defects. A trisomic population may be advantageous over a normal population if the defect is over-represented in the trisomic population. Alternatively, one can view the trisomic populations as a model system to offer insight into aspects of both normal and abnormal embryonic development. Standard disomic linkage disequilibrium mapping approaches need to be adjusted to account for the presence of the additional genetic material in the trisomic individuals. We present an approach for linkage disequilibrium mapping of variable phenotypes in a trisomic population that adequately accounts for the additional alleles and the pattern of non-independent inheritance. We establish the laboratory methods and statistical tools necessary to conduct an association study in a trisomic population. As an example, we have applied these tools to a pilot study of Down syndrome-associated congenital heart defects. (C) 2004 Wiley-Liss, Inc.
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