MnSOD基因单核苷酸多态性位点rs4880与广东鼻咽癌的相关性

摘要

Objective To evaluate the association of MnSOD single rracleotide polymorphisms (SNPs) with the susceptibility to nasopharyngeal carcinoma (NPC) in Cantonese.Methods A total of 105 Cantonese NPC patients and 136 age-matched healthy controls were enrolled in this study.Genotyping of the SNP Ala-9Val of MnSOD gene was performed by PCR and direct sequencing of the PCR products.Results The allele frequency of Ala in Cantonese was 19.1%.The frequencies of Val/Val,Val/ Ala,and Ala/Ala genotypes were 83.8%,14.3%,and 1.9% in NPC patients and 80.9%,16.9%,and 2.2% in healthy individuals,respectively.No significant differences were found in the allele or genotype frequencies between NPC patients and controls.Ala/Val genotype was shown to be significantly less frequent in patients with a positive lymph node status,but the allele Ala was not correlated to lymph node involvement.No significant differences were found in the allele and genotype frequencies in patients with different tumor sizes,metastaric statuses,clinical statuses and histological types.Conclusion MnSOD Ala-9Val polymorphism can be region- and race-related,and it is not correlated to the genetic susceptibility of NPC in Cantonese.%目的 研究MnSOD单核苷酸多态性位点rs4880与广东鼻咽癌发生风险的关系.方法 选择105例经病理证实的鼻咽癌患者为病例组,136例同期经南方医院查体中心证实的健康体检者为对照组,应用PCR法检测MnSOD基因Ala-9Val的多态性分布,比较不同基因型与鼻咽癌的相关关系.结果 中国汉族广东人Ala携带者占19.1％.病例组和对照组3种基因型Val/Val、Val/Ala、Ala/Ala的频率分别为83.8％、14.3％、1.9％和80.9％、16.9％、2.2％,各基因型在两组间分布无显著性差异.基因型Val/Ala与鼻咽癌的淋巴结转移显著相关(OR=0.308,95％CI=0.095-0.996),进一步年龄分层,这种杂合子与肿瘤淋巴结转移的关系在年长人群(＞30岁)中同样存在(OR=0.227,95％C1=0.064-0.804),但在年青人群(≤30岁)中不存在,然而等位基因Ala的分布与淋巴结转移无显著关系(OR=1.987,95％CI=0.707-5.583).各基因型在不同T、M、临床分期和病理分型的鼻咽癌患者的等位基因表达频率均无明显差异.结论 MnSOD基因Ma-9Val多态性可能与地域、种族相关；基因型Val/Ala可能与鼻咽癌淋巴结转移有关,各基因型与广东地区鼻咽癌易感性无明显相关.