Abstract for presentation at 11th International Congress of Human Genetics

Juergen Reichardt’s talk will focus on the importance of functional studies, incl. biochemical and pharmacogenetic investigations, of SNPs (single nucleotide polymorphisms), the most common form of human genetic variation. Such investigations lead to the rational choice of SNPs and haplotypes for epidemiologic association studies. The interdisciplinary presentation will mostly draw on prostate cancer. Juergen Reichardt will also outline future directions for interdisciplinary analyses of complex diseases.
Prostate cancer is the most common serious malignancy in US men and it is common in most other developed nations, incl. Australia. Significant evidence supports a role for androgens in prostate cancer etiology.
Juergen Reichardt will review recent biochemical and pharmacogenetic studies of SNPs and their contribution to molecular epidemiologic investigations. Specifically, we will summarize biochemical and pharmacogenetic data on the SRD5A2 gene which encodes the prostatic steroid 5alpha reductase (which is known as the type II enzyme). Next, we plan to highlight data on the association between several allelic variants of certain androgen-metabolic genes and the predisposition to and progression of prostate cancer. Furthermore, we will present applications of these data to prostate cancer prevention research. We note also that most of the variants show significant variability in risk.
Juergen Reichardt will conclude and propose that a multidisciplinary attack on this problem (involving biochemistry, molecular genetics, pharmacogenetics, endocrinology and epidemiology) may be a useful paradigm in the analysis of this and other complex human diseases. Finally we propose a rationale for how and which SNPs (single nucleotide polymorphisms) and/or haplotypes should be used in linkage and/or association studies of multifactorial phenotypes and disease prevention.