Abstract
Certain congenital disorders that are rare in the general population are quite common in individuals with trisomic conditions. For example, complete atrioventricular septal defect occurs in about 20% of individuals with Down syndrome, an approximately 500-fold increase in risk as compared to individuals without Down syndrome. Genetic variation on the chromosome involved in the trisomy may affect susceptibility to these trisomy-specific disorders. That is, increased dosage of a variant may be directly involved in increasing the risk of a disorder, or it may be indirectly involved by causing up- or downregulation of other genes. As in standard disomic gene-mapping, one can search for genes using linkage or association methods. Within association methods, one can consider case-control methods or family-based control methods such as the transmission disequilibrium test (TDT). Most gene-mapping methods need to be substantially redesigned for use with trisomic data. In this paper, we present a "trisomic TDT", a statistical method of testing for nonrandom transmission of alleles from parents to trisomic children. We demonstrate the method on a dataset of parent-child trios in which the child has Down syndrome.
Original language | English (US) |
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Pages (from-to) | 125-131 |
Number of pages | 7 |
Journal | Genetic epidemiology |
Volume | 26 |
Issue number | 2 |
DOIs | |
State | Published - Feb 2004 |
Externally published | Yes |
Keywords
- Association testing
- Down syndrome
- TDT
- Trisomy
ASJC Scopus subject areas
- Epidemiology
- Genetics(clinical)