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Nasopharyngeal carcinoma (NPC) is rare in most parts of the world but is more prevalent in Southern China, especially in Guangdong. The cytochrome P450 2E1 (CYP2E1) has been recognized as one of the critically important enzymes involved in oxidizing carcinogens and is probably to be associated with NPC carcinogenesis. To systematically investigate the association between genetic variants inCYP2E1and NPC risk in Cantonese, two independent studies, a family-based association study and a case–control study, were conducted using the haplotype-tagging single-nucleotide polymorphism approach. A total of 2499 individuals from 546 nuclear families were initially genotyped for the family-based association study. Single-nucleotide polymorphisms (SNPs)rs9418990,rs915908,rs8192780,rs1536826,rs3827688and one haplotypeh2(CGTGTTAA) were revealed to be significantly associated with the NPC phenotype (P = 0.045–0.003 andP= 0.003, respectively). To follow up the initial study, a case–control study including 755 cases and 755 controls was conducted. Similar results were observed in the case–control study in individuals &lt;46 years of age and had a history of cigarette smoking, with odds ratios (ORs) of specific genotypes ranging from 1.88 to 2.99 corresponding to SNPrs9418990,rs3813865,rs915906,rs2249695,rs8192780,rs1536826,rs3827688and of haplotypesh2with OR = 1.65 (P = 0.026),h5(CCCGTTAA) with OR = 2.58 (P = 0.007). The values of false-positive report probability were &lt;0.015 for six SNPs, suggesting that the reported associations are less probably to be false. This study provides robust evidence for associations between genetic variants ofCYP2E1and NPC risk.

carcinogenesis

A Case–control and a family-based association study revealing an association between               CYP2E1               polymorphisms and nasopharyngeal carcinoma risk in Cantonese