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Journal of the Korean Society of Coloproctology 1998;14(2):155-164.
NAT2 Polymorphism and Individual Genetic Susceptibility to Colorectal Cancer Patients in Korea.
Park, Young Seok , Lee, Kwang Soo , Jun, Kyu Young , Lee, Heung Woo , Chun, Ho Kyung , Kim, Hyun Jun , Kong, Gu
Abstract
To determine the frequencies of the genotypes of NAT2 gene in healthy Korean populations and to identify the high-risk genotypes of NAT2 gene in colorectal cancer patients, 115 healthy controls and 109 cancer patients were analyzed using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). The distribution of NAT2 polymorphism in healthy Korean was found to be 7.8% of S/S genotype, 48.7% of S/F genotype, and 43.5% of F/F genotype. And the frequency of phenotypes was 8% of slow acetylator and 92% of rapid acetylator. S/S genotype of colorectal cancer patients was slightly more frequent than that of healthy controls(11.9% vs 7.8%). The relative risk of S/S genotype to colorectal cancer was estimated to be 1.41, taking the risk of F/F genotype as a baseline(1.00). These results suggest that the distribution of frequencies of NAT2 genotypes is very unique in Korean characterized by extremely low frequency of slow acetylator geno type(S/S) in comparison to the other ethnic groups. And the slow acetylator genotype(S/S) in Korean was found to be more susceptible to colon cancer. Therefore, S/S genotype may have a certain role an colonic carcinogenesis in Korean.
Key Words: Genetic susceptibility; N-acetyltransferase 2; Genotyping; PCR-RFLP; Colorectal cancer


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