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Identification and Application of Biomarkers in Molecular and Genomic Epidemiologic Research

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초록

Biomarkers are characteristic biological properties that can be detected and measured in a variety of biological matrices in the human body, including the blood and tissue, to give an indication of whether there is a threat of disease, if a disease already exists, or how such a disease may develop in an individual case. Along the continuum from exposure to clinical disease and progression, exposure, internal dose, biologically effective dose, early biological effect, altered structure and/or function, clinical disease, and disease progression can potentially be observed and quantified using biomarkers. While the traditional discovery of biomarkers has been a slow process, the advent of molecular and genomic medicine has resulted in explosive growth in the discovery of new biomarkers. In this review, issues in evaluating biomarkers will be discussed and the biomarkers of environmental exposure, early biologic effect, and susceptibility identified and validated in epidemiological studies will be summarized. The spectrum of genomic approaches currently used to identify and apply biomarkers and strategies to validate genomic biomarkers will also be discussed.

Abstract

Biomarkers are characteristic biological properties that can be detected and measured in a variety of biological matrices in the human body, including the blood and tissue, to give an indication of whether there is a threat of disease, if a disease already exists, or how such a disease may develop in an individual case. Along the continuum from exposure to clinical disease and progression, exposure, internal dose, biologically effective dose, early biological effect, altered structure and/or function, clinical disease, and disease progression can potentially be observed and quantified using biomarkers. While the traditional discovery of biomarkers has been a slow process, the advent of molecular and genomic medicine has resulted in explosive growth in the discovery of new biomarkers. In this review, issues in evaluating biomarkers will be discussed and the biomarkers of environmental exposure, early biologic effect, and susceptibility identified and validated in epidemiological studies will be summarized. The spectrum of genomic approaches currently used to identify and apply biomarkers and strategies to validate genomic biomarkers will also be discussed.

참고문헌 (55)

  1. Schulte PA, ""A conceptual and historical framework for molecular epidemiology," in: Schulte PA, Perera FP, editors", pp.1~36 (1993), Academic Press
  2. Lander ES, "Initial sequencing and analysis of the human genome", Nature, 409(6822), pp.860~921 (2001)
  3. Khoury MJ, "The human genome epidemiology network", Am J Epidemiol, 148(1), pp.1~3 (1998)
  4. Strickland PT, "Metabolites of 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine (PhIP) in human urine after consumption of charbroiled or fried beef", Mutat Res, 506, pp.163~173 (2002)
  5. Lee KM, "Interactive effect of genetic polymorphism of glutathione S-transferase M1 and smoking on squamous cell lung cancer risk in Korea", Oncol Rep, 16(5), pp.1035~1039 (2006)
  6. Lee KM, "Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk", Clin Cancer Res, 11(12), pp.4620~4626 (2005)
  7. Kang D, "Design issues in crosssectional biomarkers studies: Urinary biomarkers of PAH exposure and oxidative stress", Mutat Res, 592(1), pp.138~146 (2005)
  8. Van Maele-Fabry G, "Risk of leukaemia among pesticide manufacturing workers: A review and metaanalysis of cohort studies", Environ Res, 106(1), pp.121~137 (2008)
  9. Van Maele-Fabry G, "Review and meta-analysis of risk estimates for prostate cancer in pesticide manufacturing workers", Cancer Causes Control, 17(4), pp.353~373 (2006)
  10. Boffetta P, "Serum cotinine level as predictor of lung cancer risk", Cancer Epidemiol Biomarkers Prev, 15(6), pp.1184~1188 (2006)
  11. McDonald SA, "A record-linkage study of the development of hepatocellular carcinoma in persons with hepatitis C infection in Scotland", Br J Cancer, 99(5), pp.805~810 (2008)
  12. Giordano TP, "Risk of non-Hodgkin lymphoma and lymphoproliferative precursor diseases in US veterans with hepatitis C virus", JAMA, 297(18), pp.2010~2017 (2007)
  13. Mork J, "Human papillomavirus infection as a risk factor for squamous-cell carcinoma of the head and neck", N Engl J Med, 344(15), pp.1125~1131 (2001)
  14. Wu HC, "Aflatoxin B1 exposure, hepatitis B virus infection, and hepatocellular carcinoma in Taiwan", Cancer Epidemiol Biomarkers Prev, 18(3), pp.846~853 (2009)
  15. Gunter MJ, "Leukocyte polycyclic aromatic hydrocarbon-DNA adduct formation and colorectal adenoma", Carcinogenesis, 28(7), pp.1426~1429 (2007)
  16. Rundle AG, "Design Options for molecular epidemiology research within cohort studies", Cancer Epidemiol Biomarkers Prev, 14(8), pp.1899~1907 (2005)
  17. Kulasingam V, "Strategies for discovering novel cancer biomarkers through utilization of emerging technologies", Nat Clin Pract Oncol, 5(10), pp.588~599 (2008)
  18. Chatterjee SK, "Cancer biomarkers:Knowing the present and predicting the future", Future Oncol, 1(1), pp.37~50 (2005)
  19. Lee MS, "Selection of neural differentiation-specific genes by comparing profiles of random differentiation", Stem Cells, 24(8), pp.1946~1955 (2006)
  20. Park WY, "Gene profile of replicative senescence is different from progeria or elderly donor", Biochem Biophys Res Commun, 282(4), pp.934~939 (2001)
  21. Kim JH, "Gene expression profiling of anti-GBM glomerulonephritis model: The role of NF-kappaB in immune complex kidney disease", Kidney Int, 66(5), pp.1826~1837 (2004)
  22. Golub TR, "Molecular classification of cancer: Class discovery and class prediction by gene expression monitoring", Science, 286(5439), pp.531~537 (1999)
  23. Yates JR 3rd, "Mass spectrometry: From genomics to proteomics", Trends Genet, 16(1), pp.5~8 (2000)
  24. Holmes E, "Metabonomic characterization of genetic variations in toxicological and metabolic responses using probabilistic neural networks", Chem Res Toxicol, 14(2), pp.182~191 (2001)
  25. Yoo KY, "Current researches on breast cancer epidemiology in Korea", Breast Cancer, 10(4), pp.289~293 (2003)
  26. Bonassi S, "Chromosomal aberration frequency in lymphocytes predicts the risk of cancer: results from a pooled cohort study of 22,358 subjects in 11 countries", Carcinogenesis, 29(6), pp.1178~1183 (2008)
  27. Anttila T, "Serotypes of Chlamydia trachomatis and risk for development of cervical squamous cell carcinoma", JAMA, 285(1), pp.47~51 (2001)
  28. Duffy SA, "Interleukin-6 predicts recurrence and survival among head and neck cancer patients", Cancer, 113(4), pp.750~757 (2008)
  29. Rinaldi S, "Serum levels of IGF-I, IGFBP-3 and colorectal cancer risk:results from the EPIC cohort, plus a metaanalysis of prospective studies", Int J Cancer, 6 (2009)
  30. Tokuhisa Y, "Circulating cell-free DNA as a predictive marker for distant metastasis of hepatitis C virus-related hepatocellular carcinoma", Br J Cancer, 97(10), pp.1399~1403 (2007)
  31. Weitzel JN, "The HRAS1 minisatellite locus and risk of ovarian cancer", Cancer Res, 60(2), pp.259~261 (2000)
  32. Yang CX, "Phase I", II enzyme gene polymorphisms and esophageal cancer risk: a meta-analysis of the literature, 2005, pp.11(17), 2531~2538
  33. Hashibe M, "Meta- and pooled analyses of GSTM1, GSTT1, GSTP1, and CYP1A1 genotypes and risk of head and neck cancer", Cancer Epidemiol Biomarkers Prev, 12(12), pp.1509~1517 (2003)
  34. Zhuo X, "GSTM1 and GSTT1 polymorphisms and nasopharyngeal cancer risk: An evidencebased meta-analysis", J Exp Clin Cancer Res, 28, pp.46~ (2009)
  35. Kiyohara C, "Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: A metaanalysis", Int J Med Sci, 4(2), pp.59~71 (2007)
  36. Hung RJ, "Genetic polymorphisms in the base excision repair pathway and cancer risk: A HuGE review", Am J Epidemiol, 162(10), pp.925~942 (2005)
  37. Li H, "XRCC1 gene polymorphisms and breast cancer risk in different populations: A meta-analysis", Breast, 18(3), pp.183~191 (2009)
  38. Huang WY, "Selected genetic polymorphisms in MGMT, XRCC1, XPD, and XRCC3 and risk of head and neck cancer:A pooled analysis", Cancer Epidemiol Biomarkers Prev, 14(7), pp.1747~1753 (2005)
  39. Lee DH, "Characteristics of P2X7-like receptor activated by adenosine triphosphate in HIT-T15 cells", Pancreas, 35(1), pp.53~62 (2007)
  40. Sang-Ah Lee, "Obesity and genetic polymorphism of ERCC2 and ERCC4 as modifiers of risk of breast cancer", Experimental and Molecular Medicine, 37(2), pp.86~90 (2005), 생화학분자생물학회
  41. Uetrecht J, "Idiosyncratic drug reactions: current understanding", Annu Rev Pharmacol Toxicol, 47, pp.513~539 (2007)
  42. Redon R, "Global variation in copy number in the human genome", Nature, 444(7118), pp.444~454 (2006)
  43. Wilson AS, "DNA hypomethylation and human diseases", Biochim Biophys Acta, 1775(1), pp.138~162 (2007)
  44. Brown PO, "Exploring the new world of the genome with DNA microarrays", Nat Genet, 21(1), pp.33~37 (1999)
  45. Park WY, "Identification of radiationspecific responses from gene expression profile", Oncogene, 21(55), pp.8521~8528 (2002)
  46. Van‘t Veer LJ, "Gene expression profiling predicts clinical outcome of breast cancer", Nature, 415(6871), pp.530~536 (2002)
  47. Perou CM, "Molecular portraits of human breast tumours", Nature, 406(6797), pp.747~752 (2000)
  48. Nelson KM, "MicroRNAs and cancer: past, present, and potential future", Mol Cancer Ther, 7(12), pp.3655~3660 (2008)
  49. Anderson NL, "Simultaneous measurement of hundreds of liver proteins: Application in assessment of liver function", Toxicol Pathol, 24(1), pp.72~76 (1996)
  50. Washburn MP, "Large-scale analysis of the yeast proteome by multidimensional protein identification technology", Nat Biotechnol, 19(3), pp.242~247 (2001)
  51. Cutler P, "Protein arrays: The current state-ofthe-art", Proteomics, 3(1), pp.3~18 (2003)
  52. Collings FB, "Novel technologies for the discovery and quantitation of biomarkers of toxicity", Toxicology, 245(3), pp.167~174 (2008)
  53. Robertson DG, "Metabonomics in preclinical drug development", Expert Opin Drug Metab Toxicol, 1(3), pp.363~376 (2005)
  54. Woo HG, "Identification of potential driver genes in human liver carcinoma by genomewide screening", Cancer Res, 69(9), pp.4059~4066 (2009)
  55. Bensalah K, "Challenges of cancer biomarker profiling", Eur Urol, 52(6), pp.1601~1609 (2007)

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