Abstract for presentation at 11th International Congress of Human Genetics

THE NAD(P)H: quinone oxidoreductase (NQO1) participates in the detoxification of numerous endogenous and foreign compounds. It has been shown that homozygous patients having T allele exhibit negligible NQO1 enzyme activity. Lack of NQO1 activity might increase the risk of certain types of toxicity and cancer. It has been reported that this gene has a single nucleotide polymorphism (SNP) at site of codon 187 (nucleotide 609). It is indicated that NQO1 polymorphism has been associated with susceptibility to several malignancies. Frequency of homozygous individuals having T allele has been reported between range of 1.5% to 20.3% among different ethnic groups. Also, it is reported that acute and chronic side-effects of cancer treatments might be involved in causing genetic variations of NQO1. We initiated a study to examine NQO1 C609T genotype in different Iranian ethnic groups.
We assessed the genotype patterns of NQO1 among Iranian Fars, Mazandarani, Turk and Turkmen ethnic groups in eight regions. The NQO1 C609T genotypes were determined by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) analysis in 245 Iranian healthy individuals, 139 Fars (from 5 regions), 25 Mazandarani (from Babol), 42 Turk (from Urmia) and 39 Turkmen (from Bandar-Turkmen) ethnic groups. Their distributions for T allele were similar to allele frequencies in Caucasians with the exception of the Mazandarani ethnic group (12%) and different from other Asians groups. Allele frequency of NQO1 C609T for Yazd population were significantly different from Shiraz, Mashhad and Mazandarani.