ABSTRACT
In this chapter, we provide an overview of the field of human genetics
addressing the key molecular approaches in the study of the role of familial factors and genetic determinants in the causation of complex diseases such
as cardiovascular disease, asthma, and diabetes. The genetic complexity of
multigenic disorders is outlined underpinning the important need of under-
standing the linkage disequilibrium (LD) structure of the human genome,
ethnic and sex-related differences, and the need for applying approaches
that allow for gene-gene and gene-environment interaction studies. While
traditional linkage and association studies have been highly successful in
uncovering variants that underlie monogenetic disorders and delivered some success in the field of multigenic disorders, the sequencing of the human
genome and, more recently, the completion of the International HapMap
Project mark the start of a new phase in human genetics. The HapMap pro-
ject provides an unprecedented resource to investigators by characterizing
the patterns of genetic variation and LD structure across four geogra-
phical populations, facilitating the design of genome-wide (GW) association
studies and unveiling some of the complexity of human genetic diversity. The rapid development in new technology platforms in recent years is now
enabling investigators to conduct high-throughput experiments scanning
through the whole genome in search for genes and variants that underlie
many of the common diseases that affect human beings.
