A Method Toward Common Traits and Beyond
Shaw-Hwa Lo
Department of Statistics
Columbia University
The mapping of complex/common traits is one of the central areas of human genetics
today. Many common human disorders are believed to be "complex" or multifactorial,
meaning that they cannot be attributed to alleles of a single gene or one risk factor. Many
genes and environmental factors contribute modest effects to a combined action in
deciding these traits. Even the mutation spectrum for many simple Mendelian diseases
can be quite complex.
Mapping methodologies that are able to simultaneously inspect disjoint loci (on different
chromosomes) are crucial for the success of future genes mappings. In this talk, I will
first review the methods using family-trio data and several disease models, the backward
haplotype transmission association (BHTA) algorithm, proposed in Lo and Zheng (2002)
followed by a demonstration of applying this method to IBD data (Lo & Zheng, PNAS
2004). The outcomes of this practice suggested the potential of this alternative approach
in drawing substantial information- leading to additional scientific findings.
The main idea applies much more generally than to special genetic problems. If time
permits, a general version will be presented- dealing with the problem of detecting which,
of many variables, have an effect on a dependent variable. In a sense, we are addressing
the problem of locating a few needles in a haystack. Additional examples are available.
Based on joint works with H. Chernoff, T. Zheng, I. Ionita, H. Wang and Y. Ding