Korean J Prev Med.  2003 Aug;36(3):213-222.

Current Status of Genomic Epidemiology Research

• Kang D
• Lee KM

Abstract

Genomic epidemiology is defined as "an evolving field of inquiring that uses the systematic application of epidemiologic methods and approaches in population-based studies of the impact of human genetic variation on health and disease (Khoury, 1998) ". Most human diseases are caused by the intricate interaction among environmental exposures and genetic susceptibility factors. Susceptibility genes involved in disease pathogenesis are categorized into two groups: high penetrance genes (i.e., BRAC1, RB, etc.) and low penetrance genes (i.e., GSTs, Cyps, XRCC1, ets.), and low penetrance susceptibility genes has the higher priority for epidemiological research due to high population attributable risk. In this paper, the summarized results of the association study between single nucleotide polymorphisms (SNPs) and breast cancer in Korea were introduced and the international trends of genomic epidemiology research were reviewed with an emphasis on internet-based case-control and cohort consortium.

Keyword

Genome; Epidemiology; SNP; Case-control study; Cohort study

MeSH Terms

Breast Neoplasms
Case-Control Studies
Cohort Studies
Environmental Exposure
Epidemiologic Methods
Epidemiology*
Genetic Predisposition to Disease
Genetic Variation
Genome
Humans
Korea
Penetrance
Polymorphism, Single Nucleotide