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- Risk Assessment and Pharmacogenetics in Molecular and Genomic Epidemiology.
- Sue K Park, Ji Yeob Choi
- J Prev Med Public Health. 2009;42(6):371-376.
- DOI: https://doi.org/10.3961/jpmph.2009.42.6.371
- 5,151 View
- 60 Download
- 3 Crossref
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Abstract
PDF - In this article, we reviewed the literature on risk assessment (RA) models with and without molecular genomic markers and the current utility of the markers in the pharmacogenetic field. Epidemiological risk assessment is applied using statistical models and equations established from current scientific knowledge of risk and disease. Several papers have reported that traditional RA tools have significant limitations in decision-making in management strategies for individuals as predictions of diseases and disease progression are inaccurate. Recently, the model added information on the genetic susceptibility factors that are expected to be most responsible for differences in individual risk. On the continuum of health care, from diagnosis to treatment, pharmacogenetics has been developed based on the accumulated knowledge of human genomic variation involving drug distribution and metabolism and the target of action, which has the potential to facilitate personalized medicine that can avoid therapeutic failure and serious side effects. There are many challenges for the applicability of genomic information in a clinical setting. Current uses of genetic markers for managing drug therapy and issues in the development of a valid biomarker in pharmacogenetics are discussed.
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- Selected LDLR and APOE Polymorphisms Affect Cognitive and Functional Response to Lipophilic Statins in Alzheimer’s Disease
Fabricio Ferreira de Oliveira, Elizabeth Suchi Chen, Marilia Cardoso Smith, Paulo Henrique Ferreira Bertolucci
Journal of Molecular Neuroscience.2020; 70(10): 1574. CrossRef - Towards a personalized risk assessment for exposure of humans to toxic substances
Thaís de Almeida Pedrete, Caroline de Lima Mota, Eline Simões Gonçalves, Josino Costa Moreira
Cadernos Saúde Coletiva.2016; 24(2): 262. CrossRef - Effect of genetic and environmental influences on cardiometabolic risk factors: a twin study
György Jermendy, Tamás Horváth, Levente Littvay, Rita Steinbach, Ádám L Jermendy, Ádám D Tárnoki, Dávid L Tárnoki, Júlia Métneki, János Osztovits
Cardiovascular Diabetology.2011; 10(1): 96. CrossRef
Original Article- A Study on the Debrisoquine Metabolism in a Group, of Korean Population.
- Myung Hak Lee, Hwa Young Moon, Myung Ho Son, Seok Joon Sohn, Jin Su Choi
- Korean J Prev Med. 1994;27(3):569-580.
- 1,933 View
- 19 Download
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Abstract
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- The genetically determined ability to metabolize debrisoquine(DBR) is related to risk of lung cancer and DBR hydroxylation exhibits wide inter-individual variation. In this study, 100 korean adults were tested for their ability to metabolize DBR. The DBR metabolic phonotype were determined by metabolic ratio (MR, DBR/4-HDBR) which is the percent dose excreted as unchanged DBR divided by the percent dose excreted as 4-hydro-xydebrisoqinne(4-HriBR) in a aliquots of an eight hour urine sample, after 10 mg DBR test dose administration. Analysis was performed on a capillary gas chromatography fitted with electron capture detector. The results were as follows; 1. Geometric mean or DBR MR was 0.32 in male, 0.27 in female, 0.30 in total and the distribution of log(MR) was seemed to follow normal distribution. 2. Metabolic ratio of DBR was higher in non-smoker and non-drinker than in smoker and drinker without any statistically significant difference. 3. None of personal factors was significantly related to DBR MR except age. 4. The DBR metabolic phonotype was extensive metabolizer(EM) 93, intermediate metabolizer (IM) 7 by traditional method and EM 98, IM 3 by Caporaso's method. The poor metabolizer (PM) phenotype was not found by either method. 5. Maximal expected PM phenotype was 0.36% by traditional method and 0.04% by Caporaso's method.
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