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目的:探讨p21和TNF-α的基因多态性及联合作用与新疆哈萨克族食管癌(esophageal cancer,EC)家族易感性的关系。方法:采用PCR-RFLP方法,检测2009-02-01-2011-02-01新疆医科大学附属肿瘤医院病理确诊EC患者33例,选取43例新疆哈萨克族食管癌家族成员及40例哈萨克族非食管癌对照家族成员外周血p21 3′UTR、TNF-α308位点的单核苷酸多态性的基因型。结果:p21 3′UTR位点的3种基因型频率分布在新疆哈萨克族EC家族组和对照家族组分布差异有统计学意义,P=0.033,OR=2.502,95%CI:1.153~6.987;p21 3′UTR位点的不同基因型频率分布在新疆哈萨克族EC患者与非患者之间分布差异有统计学意义,P=0.004,OR=11.243,95%CI:1.393~16.743。TNF-α308位点的3种基因型频率分布在新疆哈族食管癌家族组和对照家族组差异有统计学意义,P=0.004,OR=8.786,95%CI:2.824~12.322;TNF-α308位点的不同基因型频率分布在新疆哈族食管癌患者与非患者分布差异有统计学意义,P=0.031,OR=2.821,95%CI:1.722~5.016。2个基因多态性位点联合分析结果显示,同时携带TNF-α308GA+AA基因型和p21TC+CC基因型的联合作用与新疆哈族食管癌的家族聚集性相关,P=0.023;而在新疆哈萨克族食管癌患者与非患者之间,2种基因多态性频率差异分布差异无统计学意义,P>0.05。结论:p21 3′UTR、TNF-α308位点基因多态性与新疆哈萨克族食管癌家族易感性有一定的相关性。
Objective: To investigate the relationship between the polymorphisms of p21 and TNF-α and their association with the susceptibility of Kazak esophageal cancer (EC) families in Xinjiang. Methods: PCR-RFLP was used to detect 33 patients with pathologically diagnosed EC in Cancer Hospital Affiliated to Xinjiang Medical University from 2009-02-01 to 2011-02-01. Forty-three Kazakh Kazakh esophageal cancer family members and 40 Kazakh non-esophageal Genotypes of single nucleotide polymorphisms in p21 3’UTR and TNF-α308 loci in peripheral blood of cancer control family members. Results: The frequency distribution of 3 genotypes in p21 3’UTR locus was significantly different in Xinjiang Kazak EC family and control group (P = 0.033, OR = 2.502, 95% CI: 1.153-6.987) The frequency distribution of different genotypes of 3’UTR loci was statistically different between Kazak patients and non-patients in Xinjiang Uygur Autonomous Region (P = 0.004, OR = 11.243, 95% CI: 1.393-16.743). The genotype frequency distribution of TNF-α308 in Xinjiang Kazakh esophageal cancer family and control family was significantly different (P = 0.004, OR = 8.786, 95% CI: 2.824-12.322) There were significant differences in the distribution of different genotype frequencies between Xinjiang Kazakh Kazakh patients with esophageal cancer and non-patients (P = 0.031, OR = 2.821, 95% CI: 1.722-5.016.2) The results showed that the combined effect of simultaneously carrying TNF-α308GA + AA genotype and p21TC + CC genotype was associated with familial aggregation in Xinjiang Kazakh esophageal cancer (P = 0.023). However, in Xinjiang Kazak esophageal cancer patients and non-patients There was no significant difference in the frequency distribution of the two genetic polymorphisms (P> 0.05). CONCLUSION: The polymorphisms of p21 3’UTR and TNF-α308 loci have some correlation with susceptibility to esophageal cancer in Kazak of Xinjiang.