Detection of Three Genetic Polymorphisms in the 5′‐Flanking Region and Intron 1 of Human CYP1A2 in the Japanese Population

• Published in: Cancer science Vol. 90; no. 9; pp. 899 - 902
• Main Authors: Chida, Michihiro, Yokoi, Tsuyoshi, Fukui, Takafumi, Kinoshita, Moritoshi, Yokota, Jun, Kamataki, Tetsuya
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.09.1999; Japanese Cancer Association; John Wiley & Sons, Inc
• Subjects: Adenine; Biological and medical sciences; Carcinogenesis, carcinogens and anticarcinogens; Carcinogens; Cell physiology; Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes; Conformation; CYP1A1 gene; CYP1A2 gene; CYP1A2 protein; Cytochrome P-450 CYP1A2 - genetics; Cytochrome P450; Fundamental and applied biological sciences. Psychology; Gene Frequency; Gene polymorphism; General aspects; genetic polymorphism; genetic polymorphisms; Guanine; Humans; Introns - genetics; Japan; Lung Neoplasms - genetics; Medical sciences; Molecular and cellular biology; PCR‐RFLP; Polymerase chain reaction; Polymerase Chain Reaction - methods; Polymorphism; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Population genetics; Population studies; Promoter Regions, Genetic - genetics; Restriction fragment length polymorphism; Thymine; Tumors; Asia; Japan; Human; Polymerase chain reaction; Enzymatic activity; Family study; Cytochrome P450; Genotype; Inheritance(genetics); Carcinogenesis; Genetic determinism; Epidemiology; Polymorphism
• ISSN: 0910-5050; 1347-9032; 1349-7006; 1876-4673
• DOI: 10.1111/j.1349-7006.1999.tb00832.x

Interindividual variability of the activity of CYP1A2 may be expected to affect cancer susceptibility, since the enzyme is capable of activating several carcinogens. In the present study, we found three new polymorphisms in the 5′‐flanking region (CYP1A2/B) and intron 1 (CYP1A2/C and CYP1A2/D) of CYP1A2 in Japanese by using polymerase chain reaction‐single strand conformation polymorphism. We developed methods to detect these polymorphisms by polymerase chain reaction‐restriction fragment length polymorphism and performed a population study (159 subjects) to estimate the frequencies of the alleles. The frequencies of the CYP1A2/A (adenine), CYP1A2/B (thymine‐deleted), CYP1A2/C (guanine) and CYP1A2/D (adenine) variants were 21.1, 42.0, 8.2 and 61.3%, respectively. The results of family study supported the idea that these CYP1A2 genotypes are inherited with an autosomal codominant transmission.