Biological sample collection and processing for molecular epidemiological studies

Mutation Research - Reviews in Mutation Research

Volumn 543, Issue 3, 2003, Pages 217-234

  Holland, Nina T ^a   Smith, Martyn T ^a   Eskenazi, Brenda ^a   Bastaki, Maria ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Biomarkers; Biorepository; Molecular epidemiology; Quality assurance; Quality control

Indexed keywords

BIOLOGICAL MARKER;

CELL ISOLATION; CRYOPRESERVATION; CYTOGENETICS; ENVIRONMENTAL EXPOSURE; ENVIRONMENTAL HEALTH; HUMAN; MEDICAL INFORMATION; MEDICAL RESEARCH; MEDICAL TECHNOLOGY; MOLECULAR BIOLOGY; NONHUMAN; PRIORITY JOURNAL; QUALITY CONTROL; REVIEW; SAMPLING; STORAGE;

EPIDEMIOLOGY, MOLECULAR; HUMANS; QUALITY CONTROL; RESEARCH DESIGN; SPECIMEN HANDLING;

EID: 0038012549     PISSN: 13835742     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1383-5742(02)00090-X     Document Type: Review

References (98)

1. P.A. Schulte, F.P. Perera, Molecular Epidemiology Principles and Practices, Academic Press, San Diego, 1993.
2. Perera F.P., Weinstein I.B. Molecular epidemiology: recent advances and future directions. Carcinogenesis. 21:2000;517-524.
3. Perera F.P. Molecular epidemiology: on the path to prevention? J. Natl. Cancer Inst. 92:2000;602-612.
4. Rothman N., Wacholder S., Caporaso N.E., Garcia-Closas M., Buetow K., Fraumeni J.F. Jr. The use of common genetic polymorphisms to enhance the epidemiologic study of environmental carcinogens. Biochim. Biophys. Acta. 1471:2001;C1-C10.
5. Boffetta P. Molecular epidemiology. J. Intern. Med. 248:2000;447-454.
6. Shpilberg O., Dorman J.S., Ferrell R.E., Trucco M., Shahar A., Kuller L.H. The next stage: molecular epidemiology. J. Clin. Epidemiol. 50:1997;633-638.
7. Perera F.P., Whyatt R.M. Biomarkers and molecular epidemiology in mutation/cancer research. Mutat. Res. 313:1994;117-129.
8. Christiani D.C. Utilization of biomarker data for clinical and environmental intervention. Environ. Health Perspect. 104(Suppl. 5):1996;921-925.
9. Perera F. Biomarkers and molecular epidemiology of occupationally related cancer. J. Toxicol. Environ. Health. 40:1993;203-215.
10. Olden K., Guthrie J. Genomics: implications for toxicology. Mutat. Res. 473:2001;3-10.
11. Bonassi S., Au W.W. Biomarkers in molecular epidemiology studies for health risk prediction. Mutat. Res. 511:2002;73-86.
12. Morgan G.J., Smith M.T. Metabolic enzyme polymorphisms and susceptibility to acute leukemia in adults. Am. J. Pharmacogen. 2:2002;79-92.
13. M. Landi, N. Caporaso, Sample collection, processing and storage, in: P. Toniolo, P. Boffetta, D.E.G. Shuker, N. Rothman, B. Hulka, N. Pearce (Eds.), Applications of Biomarkers in Cancer Epidemiology, IARC Scientific Publications, Lyon, 1997, pp. 223-236.
14. Gunter E.W. Biological and environmental specimen banking at the Centers for Disease Control and Prevention. Chemosphere. 34:1997;1945-1953.
15. W.M. Freeman, S.J. Walker, K.E. Vrana, Quantitative RT-PCR: pitfalls and potential, Biotechniques 26 (1999) 112-122, 124-115.
16. Bustin S.A. Absolute quantification of mRNA using real-time reverse transcription polymerase chain reaction assays. J. Mol. Endocrinol. 25:2000;169-193.
17. - cotransporter (NKCC1) in asthmatic subjects. Genome Res. 11:2001;1473-1483.
18. P. Schulte, N. Rothman, Epidemiological validation of biomarkers of early biological effect and susceptibility, in: M. Mendelsohn, L. Mohr, J. Peeters (Eds.), Biomarkers, Medical and Workplace Applications, Joseph Henry Press, Washington, DC, 1998, pp. 23-32.
19. Albertini R.J., Anderson D., Douglas G.R., Hagmar L., Hemminki K., Merlo F., Natarajan A.T., Norppa H., Shuker D.E.G., Tice R., Waters M.D., Aitio A. IPCS guidelines for the monitoring of genotoxic effects of carcinogens in humans. Mutat. Res. 463:2000;111-172.
20. Fenech M., Holland N., Chang W.P., Zeiger E., Bonassi S. The HUman MicroNucleus Project - an international collaborative study on the use of the micronucleus technique for measuring DNA damage in humans. Mutat. Res. 428:1999;271-283.
21. Titenko-Holland N., Levine A.J., Smith M.T., Quintana P.J., Boeniger M., Hayes R., Suruda A., Schulte P. Quantification of epithelial cell micronuclei by fluorescence in situ hybridization (FISH) in mortuary science students exposed to formaldehyde. Mutat. Res. 371:1996;237-248.
22. Rothman N., Smith M.T., Hayes R., Li G.-L., Irons R.D., Dosemeci M., Haas R., Stillman W.S., Linet M., Xi L., Bechtold W.E., Wiemels J., Campleman S., Zhang L., Quintana P.J., Titenko-Holland N., Wang Y.-Z., Lu W., Kolachana P., Meyer K.B., Yin S. An epidemiologic study of early biologic effects of benzene in Chinese workers. Environ. Health Perspect. 104:1996;1365-1370.
23. Smith M.T., Zhang L. Biomarkers of leukemia risk: benzene as a model. Environ. Health Perspect. 106:1998;937-946.
24. Zhang L., Rothman N., Wang Y., Hayes R., Yin S., Titenko-Holland N., Dosemeci M., Wang Y.-Z., Kolachana P., Lu W., Xi L., Li G.-L., Smith M.T. Benzene increases aneuploidy in the lymphocytes of exposed workers: a comparison of data obtained by Fluorescence in Situ Hybridization in interphase and metaphase cells. Environ. Molec. Mutagenesis. 34:1999;260-268.
25. Hogdall E.V., Hogdall C.K., Kjaer S.K., Xu F., Yu Y., Bast R.C., Blaakaer J., Jacobs I.J. OVX1 radioimmunoassay results are dependent on the method of sample collection and storage. Clin. Chem. 45:1999;692-694.
26. P.A. Schulte, D. Hunter, N. Rothman, Ethical and social issues in the use of biomarkers in epidemiological research, IARC Scientific Publications, Lyon, 1997, pp. 313-318.
27. Rieger P.T., Pentz R.D. Genetic testing and informed consent. Semin. Oncol. Nurs. 15:1999;104-115.
28. Mark B.A., Geddes N., Salyer J., Smith C.S. Managing the informed consent process in large multicenter projects. Nurs. Res. 48:1999;114-117.
29. Schultz E.A. Informed consent: an overview. CRNA. 9:1998;2-9.
30. P. Hainaut, K. Vahakangas, Genetic analysis of metabolic polymorphisms in molecular epidemiological studies: social and ethical implications, in: P. Vineis, N. Malats, M. Lang, A. d'Errico, N. Caporaso, J. Cuzick and P. Boffetta (Eds.), Metabolic Polymorphisms and Susceptibility to Cancer, IARC Scientific Publications, Lyon, 1999, pp. 395-402.
31. Sherman L.A. Legal issues in blood banking: elements of informed consent. Clin. Lab. Med. 16:1996;931-946.
32. Clayton E.W., Steinberg K.K., Khoury M.J., Thomson E., Andrews L., Kahn M.J., Kopelman L.M., Weiss J.O. Informed consent for genetic research on stored tissue samples. JAMA. 274:1995;1786-1792.
33. Shimm D.S., Spece R.G. Jr. Conflict of interest and informed consent in industry-sponsored clinical trials. J. Leg. Med. 12:1991;477-513.
34. J. Sellers, Medical ethics and the civil rights movement. Why informed consent is too little, too late, Second Opin. (1989) 46-61.
35. Roberts L.W. Informed consent and the capacity for voluntarism. Am. J. Psychiatr. 159:2002;705-712.
36. Williams E.D. Informed consent in genetic research. Croat. Med. J. 42:2001;451-457.
37. Raich P.C., Plomer K.D., Coyne C.A. Literacy, comprehension, and informed consent in clinical research. Cancer Invest. 19:2001;437-445.
38. Greely H.T. Informed consent and other ethical issues in human population genetics. Annu. Rev. Genet. 35:2001;785-800.
39. Grady C. Money for research participation: does it jeopardize informed consent? Am. J. Bioeth. 1:2001;40-44.
40. Drake C. Informed consent? A child's right to autonomy. J. Child Health Care. 5:2001;101-104.
41. Doyal L. Informed consent: moral necessity or illusion? Q. Health Care. 10(Suppl. 1):2001;i29-i33.
42. M.J. Khoury, W. Burke, E.J. Thomson, Genetics and Public Health in the 21st Century - Using Genetic Information to Improve Health and Prevent Disease, Oxford University Press, New York, 2000, p. 639.
43. Hunter D., Caporaso N. Informed consent in epidemiologic studies involving genetic markers. Epidemiology. 8:1997;596-599.
44. Lum A., Le Marchand L. A simple mouthwash method for obtaining genomic DNA in molecular epidemiological studies. Cancer Epidemiol. Biomarkers Prev. 7:1998;719-724.
45. Le Marchand L., Lum-Jones A., Saltzman B., Visaya V., Nomura A.M., Kolonel L.N. Feasibility of collecting buccal cell DNA by mail in a cohort study. Cancer Epidemiol. Biomarkers Prev. 10:2001;701-703.
46. Katial R.K., Grier T.J., Hazelhurst D.M., Hershey J., Engler R.J. Deleterious effects of electron beam radiation on allergen extracts. J. Allergy Clin. Immunol. 110:2002;215-219.
47. Florig H.K. Public health. Is safe mail worth the price? Science. 295:2002;1467-1468.
48. Young D. Drug products not to be exposed to postal irradiation. Am. J. Health Syst. Pharm. 59:2002;405-406.
49. D.J. Hunter, Methodological issues in the use of biological markers in cancer epidemiology: cohort studies, in: P. Toniolo, P. Boffetta, D.E.G. Shuker, N. Rothman, B. Hulka, N. Pearce (Eds.), Application of Biomarkers in Cancer Epidemiology, IARC Scientific Publications, Lyon, 1997, pp. 39-46.
50. R. Saracci, Comparing measurements of biomarkers with other measurements of exposure, in: P. Toniolo, P. Boffetta, D.E.G. Shuker, N. Rothman, B. Hulka, N. Pearce (Eds.), Application of Biomarkers in Cancer Epidemiology, IARC Scientific Publications, Lyon, 1997, pp. 303-312.
51. Castoldi A.F., Coccini T., Ceccatelli S., Manzo L. Neurotoxicity and molecular effects of methylmercury. Brain Res. Bull. 55:2001;197-203.
52. Rice D., Barone S.J. Critical periods of vulnerability for the developing nervous system: evidence from humans and animal models. Environ. Health Perspect. 108:2000;511-533.
53. Sullivan F.M. Impact of the environment on the reproduction from conception to parturition. Environ. Health Perspect. 101:1993;13-18.
54. House R.V. Cytokine measurement techniques for assessing hypersensitivity. Toxicology. 158:2001;51-58.
55. Kerkay J., Coburn C.M., McEvoy D. Effect of sodium ascorbate concentration on the stability of samples for determination of serum folate levels. Am. J. Clin. Pathol. 68:1977;481-484.
56. MacGregor J.T., Wehr C.M., Hiatt R.A., Peters B., Tucker J.D., Langlois R.G., Jacob R.A., Jensen R.H., Yager J.W., Shigenaga M.K., Frei B., Eynon B.P., Ames B.N. 'Spontaneous' genetic damage in man: evaluation of interindividual variability, relationship among markers of damage and influence of nutritional status. Mutat. Res. 377:1997;125-135.
57. Fenech M., Aitken C., Rinaldi J. Folate, vitamin B12, homocysteine status and DNA damage in young Australian adults. Carcinogenesis. 19:1998;1163-1171.
58. Lowik M.R., Schrijver J., Wedel M. Vitamin C analysis in whole blood, plasma and cells using reduced glutathione as preservative (stabilizer): losses and redistribution. Int. J. Vitamins Nutr. Res. 61:1991;43-45.
59. Comstock G.W., Norkus E.P., Hoffman S.C., Xu M.W., Helzlsouer K.J. Stability of ascorbic acid, carotenoids, retinol, and tocopherols in plasma stored at -70°C for 4 years. Cancer Epidemiol. Biomarkers Prev. 4:1995;505-507.
60. Hogman C.F., Meryman H.T. Storage parameters affecting red blood cell survival and function after transfusion. Transfus. Med. Rev. 13:1999;275-296.
61. Exley A.R., Cohen J. Optimal collection of blood samples for the measurement of tumor necrosis factor alpha. Cytokine. 2:1990;353-356.
62. Lawrence J.M., Umekubo M.A., Chiu V., Petitti D.B. Split sample analysis of serum folate levels after 18 days in frozen storage. Clin. Lab. 46:2000;483-486.
63. Komaromy-Hiller G., Nuttall K.L., Ashwood E.R. Effect of storage on serum vitamin B12 and folate stability. Ann. Clin. Lab. Sci. 27:1997;249-253.
64. Steinberg K.K., Sanderlin K.C., Ou C.-Y., Hannon W.H., McQuillan G.M., Sampson E.J. DNA banking in epidemiologic studies. Epidemiol. Rev. 19:1997;156-162.
65. Bastaki M., Braiterman L.T., Johns D.C., Chen Y.H., Hubbard A.L. Absence of direct delivery for single transmembrane apical proteins or their "secretory" forms in polarized hepatic cells. Mol. Biol. Cell. 13:2002;225-237.
66. Titenko-Holland N., Moore L.E., Smith M.T. Measurement and characterization of micronuclei in exfoliated human cells by fluorescence in situ hybridization with a centromeric probe. Mutat. Res. 312:1994;39-50.
67. Garcia-Closas M., Egan K.M., Abruzzo J., Newcomb P.A., Titus-Ernstoff L., Franklin T., Bender P.K., Beck J.C., Le Marchand L., Lum A., Alavanja M., Hayes R.B., Rutter J., Buetow K., Brinton L.A., Rothman N. Collection of genomic DNA from adults in epidemiological studies by buccal cytobrush and mouthwash. Cancer Epidemiol. Biomarkers Prev. 10:2001;687-696.
68. Andrisin T.E., Humma L.M., Johnson J.A. Collection of genomic DNA by the noninvasive mouthwash method for use in pharmacogenetic studies. Pharmacotherapy. 22:2002;954-960.
69. Harty L.C., Garcia-Closas M., Rothman N., Reid Y.A., Tucker M.A., Hartge P. Collection of buccal cell DNA using treated cards. Cancer Epidemiol. Biomarkers Prev. 9:2000;501-506.
70. Harty L.C., Shields P.G., Winn D.M., Caporaso N.E., Hayes R.B. Self-collection of oral epithelial cell DNA under instruction from epidemiologic interviewers. Am. J. Epidemiol. 151:2000;199-205.
71. J. Ussary, Preparing standard operating procedures for field studies, in: W. Garner, M. Barge, J. Ussary (Eds.), Good Laboratory Practice Standards, Applications for Field and Laboratory Studies, American Chemical Society, Washington, DC, 1992, pp. 21-26.
72. P. Royal, The quality assurance unit, in: W. Garner, M. Barge, J. Ussary (Eds.), Good Laboratory Practice Standards, Applications for Field and Laboratory Studies, American Chemical Society, Washington, DC, 1992, pp. 143-154.
73. Burger S.R. Design and operation of a current good manufacturing practices cell-engineering laboratory. Cytotherapy. 2:2000;111-122.
74. Fleming C.M., Armes F.M. The suitability of ISO 9001 as a quality system for a medical illustration department. J. Audiov. Media Med. 24(Suppl):2001;S17-S22.
75. Jacob R.A., Gretz D.M., Taylor P.C., James S.J., Pogribny I.P., Miller B.J., Henning S.M., Swendseid M.E. Moderate folate depletion increases plasma homocysteine and decreases lymphocyte DNA methylation in postmenopausal women. J. Nutr. 128:1998;1204-1212.
76. Klaude M., Eriksson S., Nygren J., Ahnstrom G. The comet assay: mechanisms and technical considerations. Mutat. Res. 363:1996;89-96.
77. Beck J.C., Beiswanger C.M., John E.M., Satariano E., West D. Successful transformation of cryopreserved lymphocytes: a resource for epidemiological studies. Cancer Epidemiol. Biomarkers Prev. 10:2001;551-554.
78. Cheng L., Wang L.E., Spitz M.R., Wei Q. Cryopreserving whole blood for functional assays using viable lymphocytes in molecular epidemiology studies. Cancer Lett. 166:2001;155-163.
79. Schlenke P., Klüter H., Müller-Steinhardt M., Hammers H.J., Borchert K., Bein G. Evaluation of a novel mononuclear cell isolation procedure for serological HLA typing. Clin. Diagn. Lab. Immunol. 5:1998;808-813.
80. Mole L., Margolis D., Carroll R., Todd J., Holodniy M. Stabilities of quantitative plasma culture for human immunodeficiency virus, RNA and p24 antigen from samples collected in Vacutainer CPT and standard vacutainer tubes. J. Clin. Microbiol. 32:1994;2212-2215.
81. Weinberg A., Betensky R.A., Zhang L., Graham R. Effect of shipment, storage, anticoagulant and cell separation on lymphocyte proliferation assays for human immunodeficiency virus-infected patients. Clin. Diagn. Lab. Immunol. 5:1998;804-807.
82. Weinberg A., Zhang L., Brown D., Erice A., Polsky B., Hirsch M.S., Owens S., Lamb K. Viability and functional activity of cryopreserved mononuclear cells. Clin. Diagn. Lab. Immunol. 7:2000;714-716.
83. W. Lopaczynski, V. Chung, T. Moore, J. Guidry, L. Merritt, M. Cosentino, K. Shea, Increasing sample storage temperature above -132°C (glass transition temperature of water [gttw]) induces apoptosis in cryopreserved human peripheral blood mononuclear cells, in: Proceedings of the ISBER Annual meeting, http://www.isber.org/abstracts2002.html, Danvers, MA, 2002.
84. Borzini P., Lazzaro A., Mazzucco L., Schiavo R., Connor J., Siena S. Platelet cryopreservation using second-messenger effector and low-dose (2%) dimethyl sulfoxide. In vitro evaluation of post-thawing platelet activity with the platelet function analyzer. Haematologica. 85:2000;885-887.
85. Cavers M., Khoshkbijari B.A., Macey M., McCarthy D.A., Irshad S., Brown K.A. Differential expression of beta1 and beta2 integrins and L-selectin on CD4+ and CD8+ T lymphocytes in human blood: comparative analysis between isolated cells, whole blood samples and cryopreserved preparations. Clin. Exp. Immunol. 127:2002;60-65.
86. Deneys V., Thiry V., Hougardy N., Mazzon A.M., Leveugle P., De Bruyere M. Impact of cryopreservation on B cell chronic lymphocytic leukaemia phenotype. J. Immunol. Methods. 228:1999;13-21.
87. Fowke K.R., Behnke J., Hanson C., Shea K., Cosentino L.M. Apoptosis: a method for evaluating the cryopreservation of whole blood and peripheral blood mononuclear cells. J. Immunol. Methods. 244:2000;139-144.
88. Reimann K.A., Chernoff M., Wilkening C.L., Nickerson C.E., Landay A.L. Preservation of lymphocyte immunophenotype and proliferative responses in cryopreserved peripheral blood mononuclear cells from human immunodeficiency virus type 1-infected donors: implications for multicenter clinical trials. The ACTG Immunology Advanced Technology Laboratories. Clin. Diagn. Lab. Immunol. 7:2000;352-359.
89. N. Holland, L. Zhang, M.T. Smith, Cytogenetic markers and air pollution, in: U. Heinrich, U. Mohr (Eds.), Relationships between Acute and Chronic Effects of Air Pollution, International Life Sciences Institute (ILSI), Washington, DC, 2000, pp. 65-78.
90. Kolachana P., Smith M.T. Induction of kinetochore-positive micronuclei in human lymphocytes by the anti-fungal drug griseofulvin. Mutat. Res. 322:1994;151-159.
91. J. Tucker, D. Eastmond, L. Littlefield, Cytogenetic end-points as biological dosimeters and predictors of risk in epidemiological studies, in: P. Toniolo, P. Boffetta, D.E.G. Shuker, N. Rothman, B. Hulka, N. Pearce (Eds.), Applications of Biomarkers in Cancer Epidemiology, IARC Scientific Publications, Lyon, 1997, pp. 185-200.
92. Rothman N., Li G.-L., Dosemeci M., Bechtold W.E., Marti G.E., Wang Y.-Z., Linet M., Xi L., Lu W., Smith M.T., Titenko-Holland N., Zhang L., Blot W., Yin S.-N., Hayes R. Hematotoxicity among chinese workers heavily exposed to benzene. Am. J. Indus. Med. 29:1996;236-246.
93. Smith M.T., Rothman N. Biomarkers in the molecular epidemiology of benzene-exposed workers. J. Toxicol. Environ. Health. 61:2000;439-445.
94. Collins A.R., Dusinska M., Gedik C.M., Stetina R. Oxidative damage to DNA: do we have a reliable biomarker? Environ. Health Perspect. 104:1996;465-469.
95. Steinberg K., Beck J., Nickerson D., Garcia-Closas M., Gallagher M., Caggana M., Reid Y., Cosentino M., Ji J., Johnson D., Hayes R.B., Earley M., Lorey F., Hannon H., Khoury M.J., Sampson E. DNA banking for epidemiologic studies: a review of current practices. Epidemiology. 13:2002;246-254.
96. Smail D., Gambino L., Boles C., Vladutiu G.D. Rapid, cost-effective gene mutation screening for carnitine palmitoyltransferase II deficiency using whole blood on filter paper. Clin. Chem. 45:1999;2035-2038.
97. Henning L., Felger I., Beck H.P. Rapid DNA extraction for molecular epidemiological studies of malaria. Acta Trop. 72:1999;149-155.
98. Laden F., Wolff M.S., Niguidula N.J., Spiegelman D., Hankinson S.E., Hunter D.J. Reduced aliquot size for a plasma organochlorine assay for use in epidemiological studies. Cancer Epidemiol. Biomarkers Prev. 6:1997;333-338.