| Objective: To acquire the distribution of hypoxia inducible factor 1αC2028T polymorphism of Guangxi healthy population and patients with nasopharyngeal carcinoma, analyze it's association with the main clinicopathologic features of nasopharyngeal carcinoma patients synthetically, and inspect it's role in the carcinogenesis and development of nasopharyngeal carcinoma.Methods: DNA genome of 90 nasopharyngeal carcinoma patients and 180 healthy controls residing in Guangxi were extracted, and the hypoxia inducible factor 1αC2028T polymorphism was detected by PCR-RFLP method. Compare the it's distribution in Guangxi population with han population in north China, Caucasians, African Americans and Japanese, and try to find it's association with nasopharyngeal carcinoma by statically analyzing their relations with patients'sex,nationality, nasopharyngeal carcinoma family history, and main clinicopathologic features. SPSS13.0 software package was involved, includingχ2 test and t test, Pearson's correlation, Hardy-Weinberg equilibrium test. Statistical significant level was considered asα=0.05. Results: 1. Only two genotypes including C/C and C/T have been found. The proportion of C/C and C/T genotype are 92.2%(166/180),7.8%(14/180)in healthy controls, and 87.8%(79/90)12.2%(11/90)in nasopharyngeal carcinoma patients respectively. The proportion of C and T gene are 96.1%(346/360), 3.9%(14/360) in healthy controls and 93.9%(169/180), 6.1%(11/180) respectively. 2. The genotype distributions of nasopharyngeal carcinoma patients and healthy controls show good agreements in Hardy-Weinberg equilibrium(χ2=0.38,P>0.05;χ2=0.29, P>0.05). 3. Guangxi population have a lower T gene rate than Caucasians(4%vs12%,χ2=15.04,P=0.00), but is similar to north China han population(χ2=1.33,P=0.51), African Americans(χ2=0.74, P=0.39) and Japanese(χ2=0.78, P=0.38), and it's genotype distribution has no difference with either north China han population(χ2=0.03, P=0.85) or Japanese(χ2=0.82, P=0.37). 4. No static difference has been documented between nasopharyngeal carcinoma patients and healthy controls(χ2=1.41 , P=0.24). 5. The hypoxia inducible factor 1αC2028T polymorphism is positively related with patients'nasopharyngeal carcinoma family history(χ2=5.44,P=0.02), N stage(rs=0.37,P=0.00), and is possible related with UICC stage(rs=0.21,P=0.05).Those having nasopharyngeal carcinoma family history, N stage have a higher rate of C/T genotype than those have not. We find no relation between the polymorphism and patients'sex(χ2=0.00 , P=1.00), nationality (χ2=0.02,P=0.89), pathological type(P=0.98)and T stage(P=0.88).Conclusions: 1. The distribution of HIF-1αC2028T polymorphism of Guangxi population is :C/C and C/T genotype 92.2%(166/180),7.8%(14/180),C and T gene 96.1%(346/360), 3.9%(14/360) respectively. It is similar to north China han population and Japanese and basically consistent with African Americans. Compared with Caucasians,Guangxi populations have a lower T gene rate. 2. Although HIF-1αC2028T polymorphism has no direct relation with the occurrence of nasopharyngeal carcinoma in our study, it is related with patients'nasopharyngeal carcinoma family history and N stage intimately. The HIF-1αC2028T polymorphism may be one of risk factors of familial nasopharyngeal carcinoma and improve the progress of the neoplasm. The exact mechanism deserves further study.
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