Polymorphic Variation of CYP1A1 and CYP1B1 Genes in a Haryana Population

• Published in: Biochemical genetics Vol. 51; no. 11-12; pp. 853 - 864
• Main Authors: Giri, Shiv Kumar, Yadav, Anita, Kumar, Anil, Dev, Kapil, Gulati, Sachin, Gupta, Ranjan, Aggarwal, Neeraj, Gautam, Sanjeev Kumar
• Format: Journal Article
• Language: English
• Published: Boston Springer-Verlag 01.12.2013; Springer US; Springer Nature B.V
• Subjects: Adult; Aryl Hydrocarbon Hydroxylases - genetics; Biochemistry; Biomedical and Life Sciences; Biomedicine; cytochrome P-450; Cytochrome P-450 CYP1A1 - genetics; Cytochrome P-450 CYP1B1; Enzymatic activity; enzyme activity; enzymes; Ethnic Groups - genetics; Female; Frequency distribution; Gene Frequency; genes; Genetic Variation; Genotype; Genotypes; Health risks; Hormones; Human Genetics; Humans; India; Male; Medical Microbiology; metabolism; Middle Aged; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; risk; Risk Factors; Toxins; Xenobiotics - metabolism; Xenobiotics - pharmacology; Young Adult; Zoology; India; Allele frequency; Haryana population; Polymorphism; Cancer
• ISSN: 0006-2928; 1573-4927
• DOI: 10.1007/s10528-013-9612-y

Cytochrome P450 (CYP) 1A1 and CYP1B1 are important phase I xenobiotic metabolizing enzymes involved in the metabolism of numbers of toxins, endogenous hormones, and pharmaceutical drugs. Polymorphisms in these phase I genes can alter enzyme activity and are known to be associated with cancer susceptibility related to environmental toxins and hormone exposure. Their genotypes may also display ethnicity-dependent population frequencies. The present study was aimed to determine the frequencies of commonly known functional polymorphisms of CYP1A1 and CYP1B1 genes in a Haryana state population of North India. The allelic frequency of CYP1A1 polymorphism m1 (MspI) was 29.65% and m2 (Ile⁴⁶²Val) was 24.85%. The frequency of CYP1B1 polymorphism m1 (Val⁴³²Leu) was 45.85% and m2 (Asn⁴⁵³Ser) was 16.2%. We observed inter- and intra-ethnic variation in the frequency distribution of these polymorphisms. Analysis of polymorphisms in these genes might help in predicting the risk of cancer. Our results emphasize the need for more such studies in high-risk populations.