The role of ethnicity in cancer susceptibility gene polymorphisms: the example of CYP1A1.

Individual susceptibility to cancer from environmental agents may be influenced by polymorphic metabolic genes such as CYP1A1. The CYP1A1 gene contains four major polymorphisms identified to date. A modern nomenclature system, used with other genes, is presented to clarify the identity of these polymorphisms. The various CYP1A1 alleles exhibit population frequencies that depend on ethnicity. The association of these alleles with cancer at several sites has also been found to depend on racial or ethnic origin of the study population. Statistical considerations, such as the need for large studies when the power to detect a rare polymorphism is low, and ethnic differences in genetic linkage disequilibrium are among possible reasons for ethnic-specific effects on cancer susceptibility related to metabolic gene polymorphisms. New efforts to determine population frequencies of such polymorphisms are essential for future research in this area.

[1]  S. Garte,et al.  A nomenclature system for metabolic gene polymorphisms. , 1999, IARC scientific publications.

[2]  M. Lang.  Metabolic polymorphisms and cancer , 1998 .

[3]  F P Perera,et al.  Environment and cancer: who are susceptible? , 1997, Science.

[4]  M. Yano,et al.  CYP1A1 CYP2E1 and GSTM1 polymorphisms are not associated with susceptibility to squamous‐cell carcinoma of the esophagus , 1997, International journal of cancer.

[5]  J. Goldstein,et al.  Differences in the incidence of the CYP2C19 polymorphism affecting the S-mephenytoin phenotype in Chinese Han and Bai populations and identification of a new rare CYP2C19 mutant allele. , 1997, The Journal of pharmacology and experimental therapeutics.

[6]  Hong-Guang Xie,et al.  Differences in the Incidence of the CYP 2 C 19 Polymorphism Affecting the S-Mephenytoin Phenotype in Chinese Han and Bai Populations and Identification of a New Rare CYP 2 C 19 Mutant Allele 1 , 1997 .

[7]  E. Taioli,et al.  Enhanced Risk of Lung and Prostate Adenocarcinoma in African-American Smokers Carrying a Novel Cypiai Gene Polymorphism , 1996 .

[8]  J. Brockmöller,et al.  A C4887A polymorphism in exon 7 of human CYP1A1: population frequency, mutation linkages, and impact on lung cancer susceptibility. , 1996, Cancer research.

[9]  D. Christiani,et al.  Cytochrome P450 CYP1A1 MspI polymorphism and lung cancer susceptibility. , 1996, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

[10]  J. Gielen,et al.  Correlation between P450 CYP1A1 inducibility, MspI genotype and lung cancer incidence. , 1996, European journal of cancer.

[11]  M. Ingelman-Sundberg,et al.  Nomenclature for human CYP2D6 alleles. , 1996, Pharmacogenetics.

[12]  E. Taioli,et al.  Distribution of composite CYP1A1 genotypes in Africans, African-Americans and Caucasians. , 1996, Human heredity.

[13]  P. Vineis,et al.  Genetic metabolic polymorphisms and the risk of cancer: a review of the literature. , 1996, Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals.

[14]  S. London,et al.  Lung cancer risk in African-Americans in relation to a race-specific CYP1A1 polymorphism. , 1995, Cancer research.

[15]  K. Noda,et al.  Risk of smoking for squamous and small cell carcinomas of the lung modulated by combinations of CYP1A1 and GSTM1 gene polymorphisms in a Japanese population. , 1995, Carcinogenesis.

[16]  O Pelkonen,et al.  A genetic polymorphism in coumarin 7-hydroxylation: sequence of the human CYP2A genes and identification of variant CYP2A6 alleles. , 1995, American journal of human genetics.

[17]  E. Taioli,et al.  A CYP1A1 restriction fragment length polymorphism is associated with breast cancer in African-American women. , 1995, Cancer research.

[18]  J. Freudenheim,et al.  Cytochrome P4501A1 and glutathione S-transferase (M1) genetic polymorphisms and postmenopausal breast cancer risk. , 1995, Cancer research.

[19]  S. Safe,et al.  Cellular and molecular biology of aryl hydrocarbon (Ah) receptor-mediated gene expression. , 1995, Archives of toxicology. Supplement. = Archiv fur Toxikologie. Supplement.

[20]  O. Hankinson.  The aryl hydrocarbon receptor complex. , 1995, Annual review of pharmacology and toxicology.

[21]  E. Taioli,et al.  Functional significance of different human CYP1A1 genotypes. , 1994, Carcinogenesis.

[22]  A. Rannug,et al.  Genetic susceptibility to lung cancer with special emphasis on CYP1A1 and GSTM1: a study on host factors in relation to age at onset, gender and histological cancer types. , 1994, Carcinogenesis.

[23]  L. Marchand,et al.  CYP1A1 genetic polymorphisms and in situ colorectal cancer. , 1994, Cancer research.

[24]  S. Tsugane,et al.  Cytochrome P-450 lA1 genotype in lung cancer patients and controls in Rio de Janeiro, Brazil. , 1994, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

[25]  R. Pollenz,et al.  The aryl hydrocarbon receptor and aryl hydrocarbon receptor nuclear translocator protein show distinct subcellular localizations in Hepa 1c1c7 cells by immunofluorescence microscopy. , 1994, Molecular pharmacology.

[26]  E. Taioli,et al.  Relationship between genotype and function of the human CYP1A1 gene. , 1993, Journal of toxicology and environmental health.

[27]  S. Anttila,et al.  Polymorphism in CYP1A1 and CYP2D6 genes: possible association with susceptibility to lung cancer. , 1993, Environmental health perspectives.

[28]  E. Taioli,et al.  A novel CYP1A1 gene polymorphism in African-Americans. , 1993, Carcinogenesis.

[29]  R. Hoover,et al.  Lung cancer, race, and a CYP1A1 genetic polymorphism. , 1993, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

[30]  Jack A. Taylor,et al.  Genotype/phenotype discordance for human arylamine N-acetyltransferase (NAT2) reveals a new slow-acetylator allele common in African-Americans. , 1993, Carcinogenesis.

[31]  K. Nakachi,et al.  Polymorphisms of the CYP1A1 and glutathione S-transferase genes associated with susceptibility to lung cancer in relation to cigarette dose in a Japanese population. , 1993, Cancer research.

[32]  D. Currie,et al.  Racial differences in restriction fragment length polymorphisms and messenger RNA inducibility of the human CYP1A1 gene. , 1993, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

[33]  R. Hoover,et al.  Cytochrome P450IIE1 genetic polymorphisms, racial variation, and lung cancer risk. , 1992, Cancer research.

[34]  S. Anttila,et al.  Point-mutational MspI and Ile-Val polymorphisms closely linked in the CYP1A1 gene: lack of association with susceptibility to lung cancer in a Finnish study population. , 1992, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

[35]  R. Chakraborty,et al.  Caucasian genes in American blacks: new data. , 1992, American journal of human genetics.

[36]  A. Brøgger,et al.  Human CYP1A1 (cytochrome P(1)450) gene: lack of association between the Msp I restriction fragment length polymorphism and incidence of lung cancer in a Norwegian population. , 1991, Pharmacogenetics.

[37]  K. Nakachi,et al.  Genetic linkage of lung cancer-associated MspI polymorphisms with amino acid replacement in the heme binding region of the human cytochrome P450IA1 gene. , 1991, Journal of biochemistry.

[38]  D. Nebert.  Role of genetics and drug metabolism in human cancer risk. , 1991, Mutation research.

[39]  D. Nebert,et al.  Human CYP1A1 gene: cosegregation of the enzyme inducibility phenotype and an RFLP. , 1991, American journal of human genetics.

[40]  K. Nakachi,et al.  Identification of genetically high risk individuals to lung cancer by DNA polymorphisms of the cytochrome P45 0IA1 gene , 1990, FEBS letters.

[41]  W. Gardner,et al.  Carcinogenesis , 1961, The Yale Journal of Biology and Medicine.