Zupa Angela, Sgambato Alessandro, Bianchino Gabriella, Improta Giuseppina, Grieco Vitina, LA Torre Giuseppe, Campisi Biagina, Traficante Antonio, Aieta Michele, Cittadini Achille
Laboratory of Molecular Oncology, Centro di Riferimento Oncologico Regionale della Basilicata (CROB), Istituto di Ricovero e Cura a Carattere Scientifico, Rionero in Vulture, Potenza.
Anticancer Res. 2009 May;29(5):1709-14.
Glutathione S-transferase M1 (GSTM1) and N-acetyltransferase-2 (NAT2) are phase II enzymes involved in the metabolism of xenobiotics and whose polymorphisms have been related to individual cancer risks.
A case-control study was performed including 92 colon, 75 lung and 23 bladder cancer patients and 121 corresponding controls to verify the existence of an association between the main genetic polymorphisms of GSTM1 and NAT2 and the risk to develop cancer. Genomic DNA, isolated from 5 mL whole blood, was used to study GSTM1 and NAT2 polymorphisms using multiplex PCR and a PCR-RFLP technique, respectively.
GSTM1 homozygous null genotype was associated with an increased risk of colon cancer, especially in females and in younger patients. For NAT2 gene, the results suggest a role for the low acetylator phenotype in the development of colon and lung cancer, especially in females. In bladder cancer patients two rare NAT2 genotypes were found at a higher frequency compared with all the other groups.
The results do not suggest a different distribution of GSTM1 and NAT2 polymorphisms in the studied population compared to those reported for other Caucasian populations and warrant further studies in order to evaluate their potential relationship with individual cancer risks.
谷胱甘肽S-转移酶M1（GSTM1）和N-乙酰基转移酶-2（NAT2）是参与外源性物质代谢的II期酶，其基因多态性与个体患癌风险相关。
开展了一项病例对照研究，纳入92例结肠癌患者、75例肺癌患者、23例膀胱癌患者以及121例相应对照，以验证GSTM1和NAT2的主要基因多态性与患癌风险之间是否存在关联。分别采用多重PCR和PCR-RFLP技术，对从5毫升全血中分离出的基因组DNA进行研究，以分析GSTM1和NAT2的多态性。
GSTM1纯合缺失基因型与结肠癌风险增加相关，尤其在女性和年轻患者中。对于NAT2基因，结果表明低乙酰化酶表型在结肠癌和肺癌发生中起作用，尤其是在女性中。在膀胱癌患者中，发现两种罕见的NAT2基因型的频率高于所有其他组。
与其他白种人群报道的情况相比，本研究结果未提示GSTM1和NAT2多态性在研究人群中的分布存在差异，有必要进一步开展研究以评估它们与个体患癌风险之间的潜在关系。
