Germ line polymorphisms of the tumor suppressor gene p53 and lung cancer

Two p53 variable sites (BstUI and MspI SNPs in exon 4 and intron 6, respect ively) and their haplotype combinations were studied in 109 patients (84 ma les and 25 females) with lung cancer and 113 healthy controls from the regi on of Eastern Slovakia. There were no differences found between lung cancer patients and controls carrying the distribution of p53 BstUI and MspI alle les. However, the genotype distribution showed a significantly higher propo rtion of MspI heterozygotes in lung cancer patients (P = 0.048, OR 1.83, 95 % CI 1.00-3.34) than in controls. The analysis based on haplotype frequenci es showed the presence of BstUI-MspI 2-1 haplotype in cancer patients (5.4% ) in contrast to the absence of this haplotype in healthy controls. The res ults of this study suggest that the p53 MspI polymorphism may modify the su sceptibility to lung cancer as a single factor rather than in combination w ith BstUI polymorphism. (C) 2001 Elsevier Science Ireland Ltd. All rights r eserved.