p53 codon 72 proline/arginine polymorphism and autoimmune thyroid diseases

摘要

p53 protein participates in the processes of apoptosis, which is involved in a number of immunological reactions. In order to test whether the gene could be used as a genetic marker for the prediction of the development of autoimmune thyroid diseases (AITD), we screened, by using polymerase chain reaction (PCR) analysis, for the C (CC_C)/G (CG_C) polymorphism at the codon 72 (Pro 72/Arg 72) to determine the genotypes of 107 Hashimoto's thyroiditis (HT) and 90 Graves' disease (GD) patients, and 105 normal controls. The data demonstrated that, for the genotype analysis, HT patients featured an enhanced numerical ratio for the Arg/Arg homozygous genotype (33.7%) and a diminished ratio for the Arg/Pro heterozygous genotype (41.1%) at the codon 72 than was the case for normal controls (Arg/Arg: 17.1% and Arg/Pro: 61.9%; =0.005). The odds ratio for the risk of the Arg/Arg genotype's appearance, compared with that of the Arg/Pro and Pro/Pro genotypes combined, for the HT patient group was 2.450 (95% confidence interval: 1.274–4.716). With respect to allelic analysis, we did not observe significant difference in the frequency of appearance of the Arg allelic variant and the Pro allelic variant for the codon 72 when comparing the HT patient group with the control group ( =0.208). On the other hand, GD patients presented no significant difference in distribution for both genotype and allelic frequencies ( =0.344 and 0.245, respectively) when compared with normal controls. In conclusion, HT patients feature a greater ratio of arginine homozygosity at codon 72 than in the case for normal subjects. The codon 72 proline/arginine polymorphism may be a genetic marker to predict the increased susceptibility of development of HT. J. Clin. Lab. Anal. 22:321–326, 2008. © 2008 Wiley‐Liss, Inc.