He Ying, Zhou Gang-Qiao, Li Xin, Dong Xiao-Jia, Chai Xian-Qi, Yao Kai-Tai
Department of Otorhinolaryngology, Nanfang Hospital, Guangzhou, Guangdong, PR China.
Ai Zheng. 2009 Jan;28(1):5-7. Epub 2009 Jan 30.
Glutathione S-transferase M1 (GSTM1) deficiency may increase the risk of nasopharyngeal carcinoma (NPC). This study was to evaluate the correlation of the single nucleotide polymorphism (SNP) in the coding region of GSTM1 gene to NPC susceptibility in southern China population.
In total 239 NPC patients and 286 age-matched healthy controls were entered into the study. Among them, 225 out of 239 NPC patients and 273 out of 286 controls were used for statistical analysis. SNP screening of all exons, relevant intron-exon boundaries, and the promoter region of GSTM1, in total 4739bp, was performed by PCR direct sequencing. The loci T1270533G and C1256088C were selected for the case-control study using the tetra-Primer ARMS-PCR, as well as the sequencing method.
In total 29 SNPs of GSTM1 were identified by sequencing. Missense mutation occurred in the polymorphic loci of T1270533G and C1256088C. However, no evident relationships between the variants of T1270533G and clinical phenotypes of NPC were observed in the NPC group and healthy control group (OR = 0.170, 95%CI = 0.95-0.306 for homozygote TT). The deletion frequency of C1256088C was 45% (45/100) for NPC patients and 42% (42/100) for controls.
The polymorphism of T1270533G does not affect the detoxification function of GSTM1. The T1270533G locus has no apparent association with genetic susceptibility to NPC in the southern China population. The loss rate of C1256088C is high in this study.
谷胱甘肽S-转移酶M1（GSTM1）缺陷可能会增加鼻咽癌（NPC）的发病风险。本研究旨在评估中国南方人群中GSTM1基因编码区单核苷酸多态性（SNP）与NPC易感性的相关性。
共纳入239例NPC患者和286例年龄匹配的健康对照者。其中，239例NPC患者中的225例和286例对照者中的273例用于统计分析。采用PCR直接测序法对GSTM1的所有外显子、相关内含子-外显子边界以及启动子区域（共4739bp）进行SNP筛查。选择位点T1270533G和C1256088C，采用四引物扩增受阻突变系统PCR（tetra-Primer ARMS-PCR）以及测序法进行病例对照研究。
通过测序共鉴定出GSTM1的29个SNP。T1270533G和C1256088C的多态性位点发生了错义突变。然而，在NPC组和健康对照组中，未观察到T1270533G变异与NPC临床表型之间存在明显关联（纯合子TT的OR = 0.170，95%CI = 0.95 - 0.306）。NPC患者中C1256088C的缺失频率为45%（45/100），对照组为42%（42/100）。
T1270533G的多态性不影响GSTM1的解毒功能。在中国南方人群中，T1270533G位点与NPC的遗传易感性无明显关联。本研究中C1256088C的缺失率较高。
