[骨髓增生异常综合征中GSTT1、GSTM1和NQO1基因多态性的研究]

[Investigation of GSTT1, GSTM1 and NQO1 genes polymorphisms in myelodysplastic syndromes].

作者信息

Yang Lin, Zou Xu, Zhang Mei-rong, Zhang Yue, Hao Yu-shu, Xiao Zhi-jian

机构信息

Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2005 Nov;26(11):674-7.

PMID:16620556

Abstract

OBJECTIVE

To investigate the relationship between GSTM1, GSTT1 and NQO1(C609T) genotypes and myelodysplastic syndromes (MDS) susceptibility and chromosome abnormalities.

METHODS

GSTT1, GSTM1 and NQO1(C609T) genotypes were detected in 52 MDS patients and 241 unrelated controls by PCR or PCR-RFLP.

RESULTS

The incidence of GSTT1 and GSTM1 null genotype was significantly increased in MDS patients as compared with controls (P = 0.001 and P < 0.001, respectively). In individuals with GSTT1 and GSTM1 null genotype, the odds ratios for MDS risk were elevated to 2.873 (95% CI: 1.491-5.537) and 3.591 (95% CI: 1.717-7.508), respectively. A significantly increased frequency of GSTT(1) null genotype among MDS patients with normal karyotype and increased frequency of GSTM1 null genotype among MDS patients with chromosome abnormalities were found as compared to controls (OR = 5.336, P = 0.005 and P = 0.003, OR = 3.740, respectively). There was no difference in the incidence of NQO1(C609T) genotypes between MDS patients and controls.

CONCLUSION

Determination of the GSTM1 and GSTT1 genotypes may be used as a stratification marker to predicate high-risk individuals for MDS.

摘要

目的

探讨谷胱甘肽硫转移酶M1（GSTM1）、谷胱甘肽硫转移酶T1（GSTT1）和醌氧化还原酶1（NQO1）（C609T）基因多态性与骨髓增生异常综合征（MDS）易感性及染色体异常之间的关系。

方法

采用聚合酶链反应（PCR）或聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）技术，检测52例MDS患者及241例健康对照者的GSTT1、GSTM1和NQO1（C609T）基因多态性。

结果

与健康对照组相比，MDS患者中GSTT1和GSTM1基因缺失型的发生率显著升高（P值分别为0.001和<0.001）。携带GSTT1和GSTM1基因缺失型个体发生MDS的风险比分别升高至2.873（95%可信区间：1.491~~5.537）和3.591（95%可信区间：1.717~~7.508）。与对照组相比，核型正常的MDS患者中GSTT1基因缺失型频率显著升高，染色体异常的MDS患者中GSTM1基因缺失型频率升高（优势比分别为5.336，P = 0.005；3.740，P = 0.003）。MDS患者与健康对照组之间NQO1（C609T）基因多态性的发生率无差异。