Current Status of Genomic Epidemiology Research.
- Author:
Daehee KANG
1
;
Kyoung Mu LEE
Author Information
1. Department of Preventive Medicine, Seoul National University College of Medicine, Korea.
- Publication Type:Original Article
- Keywords:
Genome;
Epidemiology;
SNP;
Case-control study;
Cohort study
- MeSH:
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
- From:Korean Journal of Preventive Medicine
2003;36(3):213-222
- CountryRepublic of Korea
- Language:Korean
-
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.