【摘要】：目的:探討TSPAN8基因rs1051334、rs2270587位點單核苷酸多態(tài)性與廣西扶綏縣肝癌高發(fā)區(qū)肝癌家系遺傳易感性的關(guān)系。方法:采用病例-對照研究方法,收集廣西扶綏縣肝癌高發(fā)地區(qū)20個肝癌高發(fā)家系(共79例,其中肝癌患者20例及直系親屬59例)及10個正常對照家系(共40例)作為研究對象,運(yùn)用飛行時間質(zhì)譜分析技術(shù)(MALDI-TOF)檢測TSPAN8基因rs1051334、rs2270587位點基因型。運(yùn)用SPSS 17.0軟件對數(shù)據(jù)進(jìn)行統(tǒng)計分析。所有統(tǒng)計學(xué)分析結(jié)果采用雙側(cè)概率檢驗,以P0.05為差異具有統(tǒng)計學(xué)意義。根據(jù)Hardy-Weinberg遺傳平衡定律檢測各組人群基因型吻合度。使用χ~2檢驗計算各組人群等位基因型分布差異。并應(yīng)用非條件Logistic回歸模型分析該基因候選位點基因型多態(tài)性與肝癌家系遺傳易感性的關(guān)系。結(jié)果:1.(1)肝癌高發(fā)家系組人群TSPAN8基因rs1051334位點攜帶TT、TG、GG3種基因型,其分布頻率分別是55.7%、34.2%、10.1%;對照家系組人群TSPAN8基因rs1051334位點攜帶TT、TG、GG3種基因型,其分布頻率分別是62.2%、35.1%、2.7%。兩組各基因型實際值與期望值吻合度好(P0.05)。(2)肝癌高發(fā)家系組人群TSPAN8基因rs2270587位點攜帶CC、CT、TT3種基因型,其分布頻率分別是67.1%、31.6%、1.3%;對照家系組人群TSPAN8基因rs2270587位點攜帶CC、CT、TT3種基因型,其頻率分別是50.0%、45.0%、5.0%。兩組各基因型實際值與期望值吻合度好(P0.05)。2.(1)肝癌高發(fā)家系患者組、肝癌高發(fā)家系非患者組及正常對照家系組人群TSPAN8基因rs1051334位點T等位基因頻率分別為72.5%、72.9%和79.7%,G等位基因頻率分別為27.5%、27.1%、20.3%。肝癌高發(fā)家系患者組與非患者組等位基因頻率分布無顯著差異(χ~2=0.002,P=0.963),肝癌高發(fā)家系患者組與正常對照家系組等位基因頻率分布無顯著差異(χ~2=0.771,P=0.380)。在肝癌高發(fā)家系非患者組人群中,攜帶GT基因型的個體發(fā)生HCC的風(fēng)險是攜帶TT基因型個體的1.15倍(95%CI為0.32~4.13);攜帶GG基因型的個體發(fā)生HCC的風(fēng)險是攜帶TT基因型個體的0.62倍(95%CI為0.08~4.87)。在正常對照家系組人群中,攜帶GT基因型的個體發(fā)生HCC的風(fēng)險是攜帶TT基因型個體的2.82倍(95%CI為0.52~15.27),攜帶GG基因型的個體發(fā)生HCC的風(fēng)險是攜帶TT基因型個體的3.61倍(95%CI為0.21~63.44),但差異均無統(tǒng)計學(xué)意義(P0.05)。(2)肝癌高發(fā)家系患者組、非患者組及正常對照家系組人群TSPAN8基因rs2270587位點C等位基因頻率分別為90.0%、80.5%和72.5%,T等位基因頻率分別為10.0%、19.5%、27.5%。肝癌高發(fā)家系患者組與非患者組等位基因頻率分布無顯著差異(χ~2=1.899,P=0.168),肝癌高發(fā)家系患者組與正常對照家系組等位基因頻率分布有顯著差異(χ~2=4.812,P=0.028),正常對照家系組人群攜帶T等位基因型的個體發(fā)生HCC的風(fēng)險是攜帶C等位基因型個體的0.29倍(95%CI為0.09~0.92)。在肝癌家系非患者組人群中,攜帶CT基因型的個體發(fā)生HCC的風(fēng)險是攜帶CC基因型個體的0.42倍(95%CI為0.11~1.66),但未見顯著差異(P0.05),攜帶TT基因型的個體發(fā)生肝癌的風(fēng)險無法計算出來。在正常對照家系組人群中,攜帶CT基因型的個體發(fā)生HCC的風(fēng)險是攜帶CC基因型個體的0.34倍(95%CI為0.07~1.59),但未見顯著差異(P0.05),攜帶TT基因型的個體發(fā)生肝癌的風(fēng)險無法計算。結(jié)論:1.在廣西扶綏縣人群中,TSPAN8基因rs1051334位點、rs2270587位點各基因型分布符合Hardy-Weinberg遺傳平衡定律;2.TSPAN8基因rs1051334位點單核苷酸多態(tài)性與廣西扶綏縣人群肝癌家系的遺傳易感性無明顯相關(guān)性;3.TSPAN8基因rs2270587位點單核苷酸多態(tài)性與廣西扶綏縣人群肝癌家系的遺傳易感性有相關(guān)性,rs2270587位點T等位基因為廣西扶綏縣人群HCC發(fā)生的保護(hù)因素。
[Abstract]:Objective: To investigate the relationship between the single nucleotide polymorphism of TSPAN8 gene rs1051334 and rs2270587 loci and the genetic susceptibility to HCC families in the high incidence area of liver cancer in Fusui County, Guangxi. Methods: a case control study was used to collect 20 HCC families (79 cases, including 20 cases of liver cancer and 59 cases of direct relatives) in the high incidence area of liver cancer in Fusui County, Guangxi. 10 normal controls (a total of 40 cases) were used as the research object, using time of flight mass spectrometry (MALDI-TOF) to detect TSPAN8 gene rs1051334 and rs2270587 genotype. The data were statistically analyzed using SPSS 17 software. All statistical analysis results were tested by bilateral probability, and P0.05 was statistically significant. According to H Ardy-Weinberg's law of genetic balance was used to detect the genotypic degree of genotype in each group. The difference of genotype distribution in each group was calculated using the chi square ~2 test. The relationship between the genotype polymorphism of the candidate loci and the genetic susceptibility of HCC families was analyzed by the non conditional Logistic regression model. Results: 1. (1) TSPAN8 of the HCC family group The gene rs1051334 loci carried TT, TG, and GG3 genotypes, and their distribution frequencies were 55.7%, 34.2%, 10.1% respectively. The rs1051334 loci of TSPAN8 gene in the control family group were carried by TT, TG, and GG3 genotypes, and the distribution frequencies were 62.2%, 35.1%, and 2.7%. two respectively. (2) the hepatocellular carcinoma HCC group group TS The rs2270587 loci of the PAN8 gene carry CC, CT, and TT3 genotypes, the frequencies of which are 67.1%, 31.6%, 1.3% respectively. The TSPAN8 gene rs2270587 loci of the control family group carry CC, CT, TT3 genotypes, and the frequencies of the genotype are 50%, 45%, and 5.0%. two, respectively. The frequency of T allele of TSPAN8 gene rs1051334 loci of HCC non patient group and normal control family group was 72.5%, 72.9% and 79.7% respectively, and the frequency of G allele was 27.5% and 27.1% respectively. There was no significant difference in the allele frequency distribution of 20.3%. HCC group and non patient group (x ~2=0.002, P=0.963), HCC high hair family. There was no significant difference in the allele frequency distribution between the group and the normal control group (x ~2=0.771, P=0.380). In the non patient group of the HCC family, the risk of HCC carrying GT genotype was 1.15 times that of the TT genotype (95%CI 0.32~4.13), and the risk of HCC carrying GG genotype was TT based. 0.62 times (95%CI 0.08~4.87) of the type individual. In the normal control group, the risk of HCC in individuals carrying GT genotype was 2.82 times as high as that of the TT genotype (95%CI 0.52~15.27), and the risk of HCC carrying GG genotype was 3.61 times that of the TT genotype (95%CI 0.21~63.44), but the difference was not statistically significant. (2) (2) the frequency of the C allele of the rs2270587 locus of the TSPAN8 gene was 90%, 80.5% and 72.5% in the non patient group and the normal control group, respectively, and the frequency of the T allele was 10% and 19.5%, respectively, and there was no significant difference in the allele frequency distribution between the HCC patients and the non patients group (x ~2=1). .899, P=0.168), the allele frequency distribution of HCC patients was significantly different from that of normal control family group (x ~2=4.812, P=0.028). The risk of HCC in individuals carrying T allele in normal control family group was 0.29 times as much as C allelic individuals (95%CI 0.09~0.92). The risk of HCC with the CT genotype was 0.42 times that of the CC genotype (95%CI 0.11~1.66), but there was no significant difference (P0.05). The risk of cancer carrying the TT genotype could not be calculated. In the normal control family group, the risk of carrying HCC in CT based individuals was carried by the CC genotype individual. 0.34 times (95%CI 0.07~1.59), but no significant difference (P0.05), the risk of hepatocellular carcinoma with TT genotype could not be calculated. Conclusion: 1. in the population of the TSPAN8 gene in Fusui County, Guangxi, the genotype distribution of the rs2270587 loci conforms to the Hardy-Weinberg genetic balance law, and the 2.TSPAN8 gene rs1051334 loci single nucleotide. There is no significant correlation between polymorphism and genetic susceptibility to liver cancer families in Fusui County, Guangxi. The single nucleotide polymorphism of 3.TSPAN8 gene rs2270587 loci is related to the genetic susceptibility of liver cancer families in Fusui County of Guangxi, and the rs2270587 locus T allele is the protection factor of HCC in Fusui County of Guangxi.
【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】：2017
【分類號】：R735.7

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