The fields of genetics, genomics, and pharmacogenetics are exploding as new research tools and methods stimulate rapid advances in the mapping of the human genome and in our understanding of both the molecular and cellular basis of disease and of individual's responses to medicine. The great initial excitement around these advances has been tempered by the reality of relatively few breakthroughs and a plethora of clinical genetics studies reporting conflicting results about genetic loci for many common, complex diseases. This brief overview provides readers with a framework for assessing the quality of two types of studies frequently used in genetic research - linkage and association studies. Linkage analysis studies reflect the traditional approach to gene mapping and have been used to identify the genes responsible for a number of monogenic diseases. Allelic association studies, which include case-control and family-based studies, are useful in mapping the loci of susceptibility genes of complex diseases and evaluating candidate gene loci. We discuss the strengths and potential short-comings of these types of studies and provide guidelines for evaluating their validity. We also discuss single nucleotide polymorphism mapping, a new genomic tool that will have an important impact on human genetic research, pharmacogenetic research, drug discovery and development, and the practice of clinical medicine.
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism