本文關(guān)鍵詞： 鼻咽癌 白介素-16 單核苷酸多態(tài)性 PCR-RFLP 單倍型　出處：《廣西醫(yī)科大學(xué)》2010年碩士論文　論文類型：學(xué)位論文

【摘要】： 目的:研究白介素(IL)-16基因多態(tài)性在廣西健康人群及鼻咽癌患者中的分布,探討IL-16rs11556218T/G、rs4778889T/C、rs4072111C/T三個位點單核苷酸多態(tài)性(SNP)與鼻咽癌的遺傳易感相關(guān)性,進一步闡明NPC在基因水平上的發(fā)病機理,以確定IL-16基因多態(tài)性在NPC易感性分析中的應(yīng)用價值。 方法:采用病例-對照研究方法,對來自廣西地區(qū)的75例鼻咽癌患者和75例健康體檢者,應(yīng)用酶聯(lián)免疫吸附試驗(ELISA)雙抗體夾心法檢測外周血血清IL-16水平,應(yīng)用聚合酶鏈反應(yīng)-限制性片段長度多態(tài)性(PCR-RFLP)及測序法,分別檢測rs11556218T/G、rs4778889T/C、rs4072111C/T三個位點的單核苷酸多態(tài)性,計算其基因型及等位基因頻率。運用PHASE2.0軟件對IL-16基因多態(tài)性三個SNP進行單倍型構(gòu)建與分析,用SPSS13.0軟件檢驗各位點Hardy-Weinberg遺傳平衡性(HWE)、基因型、等位基因以及各單倍型在鼻咽癌組和對照組間的頻率分布差異。以比值比(OR)及其95%可信區(qū)間(CI)表示相對風(fēng)險度。 結(jié)果: 1、鼻咽癌組IL-16水平為40.22±9.09pg/mL,健康對照組為28.31±5.28pg/mL,兩者比較差異有統(tǒng)計學(xué)意義(P=0.00)。 2、鼻咽癌組和健康對照組中IL-16基因rs11556218、rs4778889、rs4072111位點的基因型頻率已達到遺傳平衡,具有群體代表性(P0.05)。 3、rs11556218位點在鼻咽癌組和健康對照組中具有多態(tài)性(T→G),基因型TG在兩組間的差異有統(tǒng)計學(xué)意義(P=0.037),而GG基因型在兩組間無統(tǒng)計學(xué)意義。較之野生型TT,攜帶TG基因型個體患NPC風(fēng)險增加2.05倍(OR=2.05;95%CI, 1.04-4.01);等位基因G在兩組間差異有統(tǒng)計學(xué)意義(P=0.027),攜帶G等位基因的個體患NPC風(fēng)險增加1.79倍(OR=1.79; 95%CI, 1.06-3.01)。rs4778889位點在鼻咽癌組和健康對照組中具有多態(tài)性(T→C),但在兩組人群中差異無統(tǒng)計學(xué)意義(P=0.097);等位基因C在兩組間差異無統(tǒng)計學(xué)意義(P=0.154)。rs4072111位點在鼻咽癌組和健康對照組中具有多態(tài)性(C→T),但在兩組人群差異無統(tǒng)計學(xué)意義(P=0.627);等位基因T在兩組間差異無統(tǒng)計學(xué)意義(P=0.674)。 4、75例健康體檢者的IL-16三個位點多態(tài)性與其他文獻報道的亞洲人群分布較一致,與歐洲人群及撒哈拉以南非洲尼日利亞人群有差異。 5、攜帶rs11556218 G基因型個體的血清IL-16水平表達顯著升高。 6、GTT和GCC單倍型可能是NPC發(fā)病的遺傳危險因素,這兩種單倍型在NPC組的分布頻率高于對照組,兩組比較差異有統(tǒng)計學(xué)意義(P=0.020;P=0.024)。 結(jié)論:廣西地區(qū)的75例健康人群中存在IL-16 rs11556218T/G、rs4778889T/C、rs4072111C/T三個位點多態(tài)性,其頻率分布與亞洲人群分布較一致,但與歐洲及撒哈拉以南非洲人群有差異。rs11556218T/G多態(tài)性與鼻咽癌的遺傳易感性相關(guān),攜帶TG基因型個體患NPC風(fēng)險增加2.05倍,攜帶G等位基因的個體患NPC風(fēng)險增加1.79倍;rs11556218T/G、rs4778889T/C、rs4072111C/T三個SNP組成的單倍型GTT和GCC與NPC易感性有關(guān)。
[Abstract]:Objective: to study the distribution of IL-16 gene polymorphism in Guangxi healthy population and patients with nasopharyngeal carcinoma (NPC), and to investigate the association between IL-16rs11556218T / Gnrs477889T / Cnrs4072111C- / T and genetic susceptibility of nasopharyngeal carcinoma (NPC). To further clarify the pathogenesis of NPC at the gene level to determine the value of IL-16 gene polymorphism in NPC susceptibility analysis. Methods: using a case-control study, 75 patients with nasopharyngeal carcinoma (NPC) and 75 healthy controls were enrolled in this study. The serum IL-16 levels in peripheral blood were detected by Elisa double antibody sandwich method. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing were used to detect the single nucleotide polymorphisms at three loci, rs11556218T / rs4778889T / cor rs4072111C / T, respectively. PHASE2.0 software was used to construct and analyze the haplotypes of IL-16 gene polymorphism three SNP, and SPSS13.0 software was used to test the Hardy-Weinberg genetic balance. The frequency distribution of alleles and haplotypes in nasopharyngeal carcinoma (NPC) group and control group were different. The relative risk degree was expressed by ratio ratio (OR) and its 95% confidence interval (CI). Results:. 1. The IL-16 level was 40.22 鹵9.09pg / mL in nasopharyngeal carcinoma group and 28.31 鹵5.28pg / mL in healthy control group. 2, the genotype frequency of rs11556218rs4778889 rs4072111 of IL-16 gene in nasopharyngeal carcinoma group and healthy control group has reached genetic balance, and it is representative of population P0.05. 3rs11556218 has polymorphism T in nasopharyngeal carcinoma and healthy controls. 鈫扵here was significant difference in genotype TG between the two groups, but there was no significant difference in GG genotype between the two groups. Compared with wild type TTT, the risk of NPC in individuals with TG genotype increased 2.05 times, 1.04-4.01%, and allele G was different between the two groups. The risk of NPC increased by 1.79 times in individuals with G allele; in 95CI1.06-3.01U, rs4778889 loci were polymorphic T in nasopharyngeal carcinoma and healthy controls. 鈫扵here was no significant difference in allele C between the two groups. There was no significant difference in allele C between the two groups. There was no significant difference in allele C between the two groups. There was no significant difference in allele C between the two groups. The allele C was polymorphic in nasopharyngeal carcinoma (NPC) group and healthy control group (P = 0.154n.rs4072111). 鈫扵here was no significant difference in allele T between the two groups, but there was no significant difference in allele T between the two groups (P < 0. 674). The polymorphism of three IL-16 loci in 475 healthy persons was consistent with the Asian population reported in other literatures, and was different from the European population and the Nigerian population in sub-Saharan Africa. 5. The expression of serum IL-16 was significantly increased in individuals with rs11556218 G genotype. 6GTT and GCC haplotypes may be the genetic risk factors of NPC. The distribution frequency of the two haplotypes in the NPC group was higher than that in the control group. The difference between the two groups was statistically significant. Conclusion: IL-16 rs11556218T / G rs4778889T / rs4072111C / T polymorphism exists in 75 healthy people in Guangxi, and its frequency distribution is consistent with that of Asian population. However, there was a significant difference between rs11556218T / G polymorphism and the genetic susceptibility of nasopharyngeal carcinoma (NPC). The risk of NPC in individuals with TG genotype was increased by 2.05 times. Individuals with G allele had an increased risk of NPC by 1.79 times rs11556218T / rs4778889T / rs4072111C / T haplotype GTT and GCC were associated with NPC susceptibility.
【學(xué)位授予單位】：廣西醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2010
【分類號】：R739.63

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