American Statistical Association New York City Metropolitan Area Chapter Memorial Sloan-Kettering Cancer Center Biostatistics Seminar

Epidemiological studies of cancer make it clear that there is a hereditary component to cancer risk. However, traditional linkage analysis has only been able to discern the genes and mutations underlying a portion of this heritability. Recent advances in genotyping technology enables a new kind of study - genome-wide association studies. The ability to perform these studies on a true genome-wide basis relies on linkage disequilibrium that exists between SNPs as a result of the genetic history of humanity. Recent discoveries on the genetics of age-related macular degeneration illustrate both the potential and the pitfalls of discovering associated mutations indirectly through linkage disequilibrium. Linkage disequilibrium also needs to be considered when computing the power of genome-wide association studies. Misestimating the LD between SNPs in a population could lead to large misestimates of the power of a study.