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Metabolic Gene Polymorphism Frequencies in Control Populations¹

Environmental and Occupational Health Sciences Institute, University of Medicine and Dentistry of New Jersey, Piscataway, New Jersey 08854 [S. G.]; Genetics Research Institute, Milan, Italy [S. G., L. G.]; Karolinska Institute, Stockholm, Sweden [A-K. A., A. Ra., M. I-S., I. P.]; National Toxicology Program, Jefferson, Arkansas [C. A.]; University of Aarhus, Aarhus, Denmark [H. A., J. L. A.]; Universitè d’Auvergne, Clermont-Ferrand, France [H. B.]; Odense University Hospital, Odense, Denmark [L. B.]; INSERM, Villejuif, France [S. B., C. B., I. S.]; IARC, Lyon, France [P. B.]; University of Ljubljana, Ljubljana, Slovenia [K. B., V. D.]; Universitatklinikum Charite-Humboldt, Universitat zu Berlin, Berlin, Germany [J. B.]; Ernst Moritz Arndt University, Greifswald, Greifswald, Germany [I. C.]; Fox Chase Cancer Center, Philadelphia, Pennsylvania [M. L. C., C. M. D.]; Universitè de Bordeaux II, Bordeaux, France [C. C.]; University of Newcastle, Newcastle, United Kingdom [A. D.]; Istituto Medicina del Lavoro, Perugia, Italy [M. D.]; Keele University, Staffordshire, United Kingdom [A. F., R. C. S.]; National Institute of Occupational Health, Oslo, Norway [A. Ha., D. R.]; University of Louisville, Louisville, Kentucky [D. W. H.]; National Cancer Institute, Rockville, Maryland [A. Hil.]; Finnish Institute of Occupational Health, Helsinki, Finland [A. Hir.]; Chang Gung University, Tao-yuan, Taiwan [L-L. H.]; P. J. afárik University, Koice, Slovakia [I. K., J. Sa.]; Seoul National University College of Medicine, Seoul, Korea [D. K.]; Kyoto University School of Public Health, Kyoto, Japan [M. K., K. N.]; Kyushu University, Fukuoka, Japan [C. K.]; Institut de Pathologie Liége-Belgium, Liege, Belgium [P. K., L. R.]; H. Lee Moffit Cancer Center and Research Institute, Tampa, Florida [P. L.]; University of Hawaii-Honolulu, Honolulu, Hawaii [L. L. M.]; Universidade de Lisboa, Lisboa, Portugal [M. C. L.]; University Hospital, Nijmegen, the Netherlands [E. M. M. v. L., W. H. M. P.]; National Institute for Environmental Health Sciences, Research Triangle Park, North Carolina [S. L.]; University Hospital Maastricht, Maastricht, the Netherlands [J. J. M.]; Centre René Gauducheau Nantes, Nantes-Saint Herblain, France [C. M. M.]; Yao Municipal Hospital, Osaka, Japan [S. M.]; Oregon Health Sciences University, Portland, Oregon [V. N-S.]; Kanazawa University, Kanazawa-Ishikawa, Japan [Y. O.]; Vanderbilt University, Nashville, Tennessee [F. F. P.]; Mario Negri Institute, Milan, Italy [R. P.]; University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania [T. R.]; Deutsches Krebforschungszentrum, Heidelberg, Germany [A. Ri.]; University of Pittsburgh, Pittsburgh, Pennsylvania [M. R.]; National Institute of Environmental Health, Budapest, Hungary [B. S.]; Lund University, Lund, Sweden [J. Se.]; Georgetown University Medical Center, Washington, D.C. [P. G. S.]; University of Oxford, Oxford, United Kingdom [E. S.]; Hôpital Sainte-Justine, Montreal, Quebec, Canada [D. S.]; Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan [H. S.]; Hospital Clinic Provincial, Barcelona, Spain [J. T-F.]; Università degli Studi di Torino, Torino, Italy [P. V.]; University of Southern California/Norris Cancer Center, University of Southern California, Los Angeles, California [M. C. Y.]; and Ospedale Maggiore IRCCS-Direzione Scientifica, Milan, Italy [E. T.]

Using the International Project on Genetic Susceptibility to Environmental Carcinogens (GSEC) database containing information on over 15,000 control (noncancer) subjects, the allele and genotype frequencies for many of the more commonly studied metabolic genes (CYP1A1, CYP2E1, CYP2D6, GSTM1, GSTT1, NAT2, GSTP, and EPHX) in the human population were determined. Major and significant differences in these frequencies were observed between Caucasians (n = 12,525), Asians (n = 2,136), and Africans and African Americans (n = 996), and some, but much less, heterogeneity was observed within Caucasian populations from different countries. No differences in allele frequencies were seen by age, sex, or type of controls (hospital patients versus population controls). No examples of linkage disequilibrium between the different loci were detected based on comparison of observed and expected frequencies for combinations of specific alleles.

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