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背景与目的:研究发现谷胱甘肽硫转移酶M1(glutathione S-tranferase M1,GSTM1)基因缺失可使患鼻咽癌的危险性增加。本研究旨在通过对GSTM1基因编码区单核苷酸多态(single nucleotide polymorphism,SNP)位点的研究,来评估其与中国南方人群鼻咽癌遗传易感性的关系。方法:239例鼻咽癌患者和286例健康人群入组该实验。其中225例鼻咽癌患者及273例对照的实验结果用于统计学分析。在GSTM1基因外显子区、内含子和外显子交界区设计引物,用PCR产物直接测序(测序总长度4739bp),从中获得SNP位点。选择编码区多态位点T1270533G和C1256088C,用tetra-PrimerARMS-PCR和测序方法进行病例-对照研究。结果:通过测序共获取29个SNPs编码区。T1270533G和C1256088C位点氨基酸的密码子分别发生了碱基顛换,产生了错义突变。对225例鼻咽癌患者和273例健康人群分型结果表明T1270533G位点的变异与鼻咽癌临床表型之间无明显关联(OR=0.170,纯合子TT95%CI=0.95-0.306)。C1256088C位点缺失率在鼻咽癌人群中为45%(45/100),在对照人群中为42%(42/100)。结论:编码区T1270533G位点的多态性并没有影响该基因的解毒功能。该位点与中国南方人群鼻咽癌遗传易感性无明显关联。本组多态性位点C1256088C缺失率高。
BACKGROUND AND PURPOSE: The study found that the deletion of glutathione S-tranferase M1 (GSTM1) gene could increase the risk of NPC. This study aimed to assess the genetic predisposition to nasopharyngeal carcinoma in southern China by studying the single nucleotide polymorphism (SNP) locus in the coding region of GSTM1 gene. Methods: 239 patients with nasopharyngeal carcinoma and 286 healthy subjects were included in the experiment. The results of 225 NPC patients and 273 controls were used for statistical analysis. Primers were designed in the exon, intron and exon junctions of GSTM1 gene, and the SNPs were obtained by direct sequencing of PCR products (total length of 4739bp). The coding region polymorphism sites T1270533G and C1256088C were selected for case-control study using tetra-PrimerARMS-PCR and sequencing. Results: A total of 29 SNPs coding regions were obtained by sequencing. The codons of the amino acids at T1270533G and C1256088C respectively underwent base inversion, resulting in a missense mutation. The typing results of 225 nasopharyngeal carcinoma patients and 273 healthy subjects showed that there was no significant correlation between the mutation of T1270533G and the clinical phenotype of nasopharyngeal carcinoma (OR = 0.170, homozygote TT95% CI = 0.95-0.306). C1256088C site deletion rate was 45% (45/100) in NPC patients and 42% (42/100) in control subjects. Conclusion: The polymorphism of T1270533G in the coding region did not affect the detoxification function of this gene. This locus was not significantly associated with genetic predisposition of nasopharyngeal carcinoma in southern Chinese population. The group of polymorphic sites C1256088C high deletion rate.