Haplotypes in the 5′-untranslated region of the CYP1A2gene are inversely associated with lung cancer risk but do not correlate with caffeine metabolism

Environmental and Molecular Mutagenesis

Volumn 54, Issue 2, 2013, Pages 124-132

  Gervasini, Guillermo ^a   Ghotbi, Roza ^b   Aklillu, Eleni ^b   San Jose, Carmen ^c   Cabanillas, Agustin ^c   Kishikawa, Junko ^b   Benitez, Julio ^a   Carrillo, Juan Antonio ^a  

^a UNIVERSITY OF EXTREMADURA   (Spain)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c Merida Hospital   (Spain)

Author keywords

Caffeine; CYP1A2; Lung cancer; Phenotype; Polymorphisms

Indexed keywords

CAFFEINE; CYTOCHROME P450 1A2; CYP1A2 PROTEIN, HUMAN;

5' UNTRANSLATED REGION; AGED; ARTICLE; CANCER INCIDENCE; CANCER RISK; CONTROLLED STUDY; CORRELATION ANALYSIS; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GENOTYPING TECHNIQUE; HAPLOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LARGE CELL CARCINOMA; LUNG ADENOCARCINOMA; LUNG CANCER; LUNG SMALL CELL CANCER; LUNG SQUAMOUS CELL CARCINOMA; MAJOR CLINICAL STUDY; MALE; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; STATISTICAL SIGNIFICANCE; BLOOD; CASE CONTROL STUDY; ENZYMOLOGY; GENETICS; INCIDENCE; LUNG TUMOR; METABOLISM; MIDDLE AGED; QUESTIONNAIRE; REGRESSION ANALYSIS; RISK; SPAIN; URINE;

5' UNTRANSLATED REGIONS; AGED; CAFFEINE; CASE-CONTROL STUDIES; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CYTOCHROME P-450 CYP1A2; FEMALE; HAPLOTYPES; HUMANS; INCIDENCE; LUNG NEOPLASMS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; QUESTIONNAIRES; REGRESSION ANALYSIS; RISK; SMOKING; SPAIN;

MLCS; MLOWN;

EID: 84873272212     PISSN: 08936692     EISSN: 10982280     Source Type: Journal    
DOI: 10.1002/em.21747     Document Type: Article

References (47)

1. Aklillu E, Carrillo JA, Makonnen E, Hellman K, Pitarque M, Bertilsson L, Ingelman-Sundberg M. 2003. Genetic polymorphism of CYP1A2 in Ethiopians affecting induction and expression: Characterization of novel haplotypes with single-nucleotide polymorphisms in intron 1. Mol Pharmacol 64: 659-669.
2. Alexandrie AK, Nyberg F, Warholm M, Rannug A. 2004. Influence of CYP1A1, GSTM1, GSTT1, and NQO1 genotypes and cumulative smoking dose on lung cancer risk in a Swedish population. Cancer Epidemiol Biomarkers Prev 13: 908-914.
3. B'Chir F, Pavanello S, Knani J, Boughattas S, Arnaud MJ, Saguem S. 2009. CYP1A2 genetic polymorphisms and adenocarcinoma lung cancer risk in the Tunisian population. Life Sci 84: 779-784.
4. Brennan P. 2002. Gene-environment interaction and aetiology of cancer: What does it mean and how can we measure it? Carcinogenesis 23: 381-387.
5. Carrillo JA, Christensen M, Ramos SI, Alm C, Dahl ML, Benitez J, Bertilsson L. 2000. Evaluation of caffeine as an in vivo probe for CYP1A2 using measurements in plasma, saliva, and urine. Ther Drug Monit 22: 409-417.
6. Cui D, Wang Z, Zhao E, Ma J, Lu W. 2011. NAT2 polymorphism and lung cancer risk: A meta-analysis. Lung Cancer 73: 153-157.
7. Chen X, Wang L, Zhi L, Zhou G, Wang H, Zhang X, Hao B, Zhu Y, Cheng Z, He F. 2005. The G-113A polymorphism in CYP1A2 affects the caffeine metabolic ratio in a Chinese population. Clin Pharmacol Ther 78: 249-259.
8. Chen Z, Li Z, Niu X, Ye X, Yu Y, Lu S, Chen Z. 2011. The effect of CYP1A1 polymorphisms on the risk of lung cancer: A global meta-analysis based on 71 case-control studies. Mutagenesis 26: 437-446.
9. Chida M, Yokoi T, Fukui T, Kinoshita M, Yokota J, Kamataki T. 1999. Detection of three genetic polymorphisms in the 5′-flanking region and intron 1 of human CYP1A2 in the Japanese population. Jpn J Cancer Res 90: 899-902.
10. Chung WG, Kang JH, Park CS, Cho MH, Cha YN. 2000. Effect of age and smoking on in vivo CYP1A2, flavin-containing monooxygenase, and xanthine oxidase activities in Koreans: Determination by caffeine metabolism. Clin Pharmacol Ther 67: 258-266.
11. Djordjevic N, Ghotbi R, Jankovic S, Aklillu E. 2010. Induction of CYP1A2 by heavy coffee consumption is associated with the CYP1A2-163C>A polymorphism. Eur J Clin Pharmacol 66: 697-703.
12. Fanlo A, Sinues B, Mayayo E, Bernal L, Soriano A, Martinez-Jarreta B, Martinez-Ballarin E. 2004. Urinary mutagenicity, CYP1A2 and NAT2 activity in textile industry workers. J Occup Health 46: 440-447.
13. Gervasini G, Carrillo JA, Garcia M, San Jose C, Cabanillas A, Benitez J. 2006. Adenosine triphosphate-binding cassette B1 (ABCB1) (multidrug resistance 1) G2677T/A gene polymorphism is associated with high risk of lung cancer. Cancer 107: 2850-2857.
14. Gervasini G, San Jose C, Carrillo JA, Benitez J, Cabanillas A. 2010. GST polymorphisms interact with dietary factors to modulate lung cancer risk: Study in a high-incidence area. Nutr Cancer 62: 750-758.
15. Ghotbi R, Christensen M, Roh HK, Ingelman-Sundberg M, Aklillu E, Bertilsson L. 2007. Comparisons of CYP1A2 genetic polymorphisms, enzyme activity and the genotype-phenotype relationship in Swedes and Koreans. Eur J Clin Pharmacol 63: 537-546.
16. Ghotbi R, Gomez A, Milani L, Tybring G, Syvanen AC, Bertilsson L, Ingelman-Sundberg M, Aklillu E. 2009. Allele-specific expression and gene methylation in the control of CYP1A2 mRNA level in human livers. Pharmacogenomics J 9: 208-217.
17. Gunes A, Ozbey G, Vural EH, Uluoglu C, Scordo MG, Zengil H, Dahl ML. 2009. Influence of genetic polymorphisms, smoking, gender and age on CYP1A2 activity in a Turkish population. Pharmacogenomics 10: 769-778.
18. Hecht SS. 2006. Cigarette smoking: Cancer risks, carcinogens, and mechanisms. Langenbecks Arch Surg 391: 603-613.
19. Hong CC, Tang BK, Hammond GL, Tritchler D, Yaffe M, Boyd NF. 2004. Cytochrome P450 1A2 (CYP1A2) activity and risk factors for breast cancer: A cross-sectional study. Breast Cancer Res 6: R352-R365.
20. Houlston RS. 2000. CYP1A1 polymorphisms and lung cancer risk: A meta-analysis. Pharmacogenetics 10: 105-114.
21. Jiang Z, Dragin N, Jorge-Nebert LF, Martin MV, Guengerich FP, Aklillu E, Ingelman-Sundberg M, Hammons GJ, Lyn-Cook BD, Kadlubar FF, Saldana SN, Sorter M, Vinks AA, Nassr N, von Richter O, Jin L, Nebert DW. 2006. Search for an association between the human CYP1A2 genotype and CYP1A2 metabolic phenotype. Pharmacogenet Genomics 16: 359-367.
22. Lahousse SA, Hoenerhoff M, Collins J, Ton TV, Masinde T, Olson D, Rebolloso Y, Koujitani T, Tomer KB, Hong HH, Bucher J, Sills RC. 2011. Gene expression and mutation assessment provide clues of genetic and epigenetic mechanisms in liver tumors of oxazepam-exposed mice. Vet Pathol 48: 875-884.
23. Le Marchand L, Hankin JH, Wilkens LR, Pierce LM, Franke A, Kolonel LN, Seifried A, Custer LJ, Chang W, Lum-Jones A, Donlon T. 2001. Combined effects of well-done red meat, smoking, and rapid N-acetyltransferase 2 and CYP1A2 phenotypes in increasing colorectal cancer risk. Cancer Epidemiol Biomarkers Prev 10: 1259-1266.
24. Nordmark A, Lundgren S, Cnattingius S, Rane A. 1999. Dietary caffeine as a probe agent for assessment of cytochrome P4501A2 activity in random urine samples. Br J Clin Pharmacol 47: 397-402.
25. Nordmark A, Lundgren S, Ask B, Granath F, Rane A. 2002. The effect of the CYP1A2 *1F mutation on CYP1A2 inducibility in pregnant women. Br J Clin Pharmacol 54: 504-510.
26. Osawa Y, Osawa KK, Miyaishi A, Higuchi M, Tsutou A, Matsumura S, Tabuchi Y, Tsubota N, Takahashi J. 2007. NAT2 and CYP1A2 polymorphisms and lung cancer risk in relation to smoking status. Asian Pac J Cancer Prev 8: 103-108.
27. Palma BB, Silva ESM, Vosmeer CR, Lastdrager J, Rueff J, Vermeulen NP, Kranendonk M. 2010. Functional characterization of eight human cytochrome P450 1A2 gene variants by recombinant protein expression. Pharmacogenomics J 10: 478-488.
28. Parkin DM, Bray F, Ferlay J, Pisani P. 2005. Global cancer statistics, 2002. CA Cancer J Clin 55: 74-108.
29. Pavanello S, B'Chir F, Pulliero A, Saguem S, Ben Fraj R, El Aziz Hayouni A, Clonfero E, Mastrangelo G. 2007. Interaction between CYP1A2-T2467DELT polymorphism and smoking in adenocarcinoma and squamous cell carcinoma of the lung. Lung Cancer 57: 266-272.
30. Pavanello S, Mastrangelo G, Placidi D, Campagna M, Pulliero A, Carta A, Arici C, Porru S. 2010. CYP1A2 polymorphisms, occupational and environmental exposures and risk of bladder cancer. Eur J Epidemiol 25: 491-500.
31. Perera V, Gross AS, McLachlan AJ. 2012. Measurement of CYP1A2 activity: A focus on caffeine as a probe. Curr Drug Metab 13: 667-678.
32. Quattrochi LC, Vu T, Tukey RH. 1994. The human CYP1A2 gene and induction by 3-methylcholanthrene. A region of DNA that supports AH-receptor binding and promoter-specific induction. J Biol Chem 269: 6949-6954.
33. Raimondi S, Paracchini V, Autrup H, Barros-Dios JM, Benhamou S, Boffetta P, Cote ML, Dialyna IA, Dolzan V, Filiberti R, Garte S, Hirvonen A, Husgafvel-Pursiainen K, Imyanitov EN, Kalina I, Kang D, Kiyohara C, Kohno T, Kremers P, Lan Q, London S, Povey AC, Rannug A, Reszka E, Risch A, Romkes M, Schneider J, Seow A, Shields PG, Sobti RC, Sorensen M, Spinola M, Spitz MR, Strange RC, Stucker I, Sugimura H, To-Figueras J, Tokudome S, Yang P, Yuan JM, Warholm M, Taioli E. 2006. Meta- and pooled analysis of GSTT1 and lung cancer: A HuGE-GSEC review. Am J Epidemiol 164: 1027-1042.
34. Saarikoski ST, Husgafvel-Pursiainen K, Hirvonen A, Vainio H, Gonzalez FJ, Anttila S. 1998. Localization of CYP1A1 mRNA in human lung by in situ hybridization: Comparison with immunohistochemical findings. Int J Cancer 77: 33-39.
35. Sachse C, Brockmoller J, Bauer S, Roots I. 1999. Functional significance of a C-->A polymorphism in intron 1 of the cytochrome P450 CYP1A2 gene tested with caffeine. Br J Clin Pharmacol 47: 445-449.
36. Sachse C, Bhambra U, Smith G, Lightfoot TJ, Barrett JH, Scollay J, Garner RC, Boobis AR, Wolf CR, Gooderham NJ. 2003. Polymorphisms in the cytochrome P450 CYP1A2 gene (CYP1A2) in colorectal cancer patients and controls: Allele frequencies, linkage disequilibrium and influence on caffeine metabolism. Br J Clin Pharmacol 55: 68-76.
37. San Jose C, Cabanillas A, Benitez J, Carrillo JA, Jimenez M, Gervasini G. 2010. CYP1A1 gene polymorphisms increase lung cancer risk in a high-incidence region of Spain: A case control study. Biomed Chromatogr Cancer 10: 463.
38. Sanchez de Cos Escuin J, Riesco Miranda JA, Anton Martinez J, Diaz Santamaria P, Marquez Perez L, Medina Gallardo JF, Tapia Regidor JC, Rodriguez Blanco I. 2000. [Incidence of bronchopulmonary carcinoma in Extremadura in 1998]. Arch Bronconeumol 36: 381-384.
39. Seow A, Zhao B, Lee EJ, Poh WT, Teh M, Eng P, Wang YT, Tan WC, Lee HP. 2001. Cytochrome P4501A2 (CYP1A2) activity and lung cancer risk: A preliminary study among Chinese women in Singapore. Carcinogenesis 22: 673-677.
40. Shimada T, Yamazaki H, Mimura M, Inui Y, Guengerich FP. 1994. Interindividual variations in human liver cytochrome P-450 enzymes involved in the oxidation of drugs, carcinogens and toxic chemicals: Studies with liver microsomes of 30 Japanese and 30 Caucasians. J Pharmacol Exp Ther 270: 414-423.
41. Singh AP, Pant MC, Ruwali M, Shah PP, Prasad R, Mathur N, Parmar D. 2011. Polymorphism in cytochrome P450 1A2 and their interaction with risk factors in determining risk of squamous cell lung carcinoma in men. Cancer Biomark 8: 351-359.
42. Takata K, Saruwatari J, Nakada N, Nakagawa M, Fukuda K, Tanaka F, Takenaka S, Mihara S, Marubayashi T, Nakagawa K. 2006. Phenotype-genotype analysis of CYP1A2 in Japanese patients receiving oral theophylline therapy. Eur J Clin Pharmacol 62: 23-28.
43. Tao L, Xiang YB, Chan KK, Wang R, Gao YT, Yu MC, Yuan JM. 2012. Cytochrome P4501A2 phenotype and bladder cancer risk: The Shanghai bladder cancer study. Int J Cancer 130: 1174-1183.
44. Vistisen K, Loft S, Olsen JH, Vallentin S, Ottesen S, Hirsch FR, Poulsen HE. 2004. Low CYP1A2 activity associated with testicular cancer. Carcinogenesis 25: 923-929.
45. Wei C, Caccavale RJ, Kehoe JJ, Thomas PE, Iba MM. 2001. CYP1A2 is expressed along with CYP1A1 in the human lung. Cancer Lett 171: 113-120.
46. Welfare MR, Bassendine MF, Daly AK. 2000. The effect of NAT2 genotype and gender on the metabolism of caffeine in nonsmoking subjects. Br J Clin Pharmacol 49: 240-243.
47. Zienolddiny S, Campa D, Lind H, Ryberg D, Skaug V, Stangeland LB, Canzian F, Haugen A. 2008. A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of non-small cell lung cancer in smokers. Carcinogenesis 29: 1164-1169.