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- Discovering Gene-Environment Interactions in the Post-Genomic Era.
- Nirinjini Naidoo, Kee Seng Chia
- J Prev Med Public Health. 2009;42(6):356-359.
- DOI: https://doi.org/10.3961/jpmph.2009.42.6.356
- 4,849 View
- 34 Download
- 1 Crossref
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Abstract
PDF - In the more than 100 genome wide association studies (GWAS) conducted in the past 5 years, more than 250 genetic loci contributing to more than 40 common diseases and traits have been identified. Whilst many genes have been linked to a trait, both their individual and combined effects are small and unable to explain earlier estimates of heritability. Given the rapid changes in disease incidence that cannot be accounted for by changes in diagnostic practises, there is need to have well characterized exposure information in addition to genomic data for the study of gene-environment interactions. The case-control and cohort study designs are most suited for studying associations between risk factors and occurrence of an outcome. However, the case control study design is subject to several biases and hence the preferred choice of the prospective cohort study design in investigating gene-environment interactions. A major limitation of utilising the prospective cohort study design is the long duration of follow-up of participants to accumulate adequate outcome data. The GWAS paradigm is a timely reminder for traditional epidemiologists who often perform one- or few-at-a-time hypothesis-testing studies with the main hallmarks of GWAS being the agnostic approach and the massive dataset derived through large-scale international collaborations.
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- The Therapeutic Potential of Epigenetics in Autoimmune Diseases
Maria De Santis, Carlo Selmi
Clinical Reviews in Allergy & Immunology.2012; 42(1): 92. CrossRef
English AbstractTOP- Strategy Considerations in Genome Cohort Construction in Korea.
- Joohon Sung, Sung Il Cho
- J Prev Med Public Health. 2007;40(2):95-101.
- DOI: https://doi.org/10.3961/jpmph.2007.40.2.95
- 4,092 View
- 33 Download
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Abstract
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- Focusing on complex diseases of public health significance, strategic issues regarding the on-going Korean Genome Cohort were reviewed: target size and diseases, measurements, study design issues, and followup strategy of the cohort. Considering the epidemiologic characteristics of Korean population as well as strengths and drawbacks of current research environment, we tried to tailor the experience of other existing cohorts into proposals for this Korean study. Currently 100,000 individuals have been participating the new Genome Cohort in Korea. Target size of de novo collection is recommended to be set as between 300,000 to 500,000. This target size would allow acceptable power to detect genetic and environmental factors of moderate effect size and possible interactions between them. Family units and/or special subgroups are recommended to parallel main body of adult individuals to increase the overall efficiency of the study. Given that response rate to the conventional re-contact method may not be satisfactory, successful follow-up is the main key to the achievement of the Korean Genome Cohort. Access to the central database such as National Health Insurance data can provide enormous potential for near-complete case detection. Efforts to build consensus amongst scientists from broad fields and stakeholders are crucial to unleash the centralized database as well as to refine the commitment of this national project.
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SummaryOriginal Articles
- Current Status of Genomic Epidemiology Research.
- Daehee Kang, Kyoung Mu Lee
- Korean J Prev Med. 2003;36(3):213-222.
- 5,417 View
- 50 Download
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Abstract
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- 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.
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Summary
- Specimen Storage and Analysis for Genomic Epidemiology.
- Yun Chul Hong, Kwan Hee Lee
- Korean J Prev Med. 2003;36(3):209-212.
- 5,735 View
- 20 Download
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Abstract
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- Because of advances of technologies in the field of genomic epidemiology in the recent years, specimen collection, storage and analysis became an essential part of research methodologies. DNA is now being used in epidemiologic studies to evaluate genetic risk factors and specimens other than the fresh whole blood can be used for PCR. Therefore, All nucleated cells, such as buccal swabs and urine specimens, are suitable for DNA analysis. For an unlimited source of genomic DNA, EBV transformation of lymphocytes can be used for immortalization. However, the type of specimen collected in genomic epidemiologic studies will depend on the study where the epidemiologist play a leading role for the design. We also briefly described various kinds of analysis for SNP that is an essential part of the genomic epidemiology.
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