APOC3启动子区基因多态性与非酒精性脂肪性肝病的相关性研究
发布时间：2018-11-03 13:11
【摘要】：目的探讨青岛地区汉族人群中APOC3基因启动子区两位点多态性T-455C、C-482T与非酒精性脂肪性肝病(NAFLD)遗传易感性的相关性。 方法对390例NAFLD患者和409名正常对照采用多聚酶链反应(PCR)及基因型检测方法对APOC3rs2854116、rs2854117位点及PNPLA3rs738409位点进行基因型检测,通过Hardy-Weinberg (H-W)平衡法则分析两组基因型是否有群体代表性,并测量其血清学指标及胰岛素抵抗水平(IR, HOMA-IR)。随机选取180人采用酶联免疫吸附试验(ELISA)测定血浆中APOC3蛋白的含量。除外PNPLA3rs738409基因位点突变外,比较各组APOC3两位点基因型频率、等位基因频率、相关临床资料及总抗氧化能力的差异。应用Haploview软件进行APOC3两位点之间的连锁不平衡检测,采用SPSS17.0软件进行统计学分析。 结果APOC3rs2854116、rs2854117位点基因型及等位基因在NAFLD组与对照组中的分布频率差异无统计学意义(P0.05)。相对于野生型-455TT或-482CC,含突变位点基因型未增加NAFLD的发病风险。经多变量Logistic回归分析校正混杂因素后,含等位基因-455C、-482T的基因型携带者发生NAFLD的比值比OR(95%CI)分别为：1.06(95%CI:0.72-1.57,P0.05)、1.00(95%CI:0.68-1.48,P0.05)。两位点存在强的连锁不平衡(D'=0.943),临床资料及各生物指标如：APOC3蛋白含量(13.94±2.01vs.14.38±1.92),胰岛素含量(1.42±0.43vs.1.48±0.52),肝酶水平以及TAS(13.94±2.01vs.14.38±1.92)在野生型组及含突变位点组中均未见明显差异(P0.05)。除外PNPLA3rs738409基因位点突变引起的各指标变化外,以上结果无明显改变。 结论在青岛地区汉族人群中,APOC3基因启动子区两位点的多态性与NAFLD的发病风险、脂质的聚集、胰岛素抵抗水平以及氧化应激无明显相关性。
[Abstract]:Objective to investigate the relationship between the polymorphism T-455CnC-482T in the promoter region of APOC3 gene and the (NAFLD) susceptibility to non-alcoholic fatty liver disease in Qingdao Han population. Methods Polymerase chain reaction (PCR) and genotyping were used to detect APOC3rs2854116,rs2854117 and PNPLA3rs738409 loci in 390 patients with NAFLD and 409 normal controls. The Hardy-Weinberg (H-W) balance rule was used to analyze whether the two groups had population representativeness, and their serological indexes and insulin resistance (IR, HOMA-IR) were measured. The content of APOC3 protein in plasma was determined by enzyme linked immunosorbent assay (ELISA). The genotype frequency, allele frequency, relative clinical data and total antioxidant capacity of APOC3 were compared between each group except for the mutation of PNPLA3rs738409 locus. The linkage disequilibrium between two APOC3 loci was detected by Haploview software and statistically analyzed by SPSS17.0 software. Results there was no significant difference in the distribution frequency of APOC3rs2854116,rs2854117 locus genotype and allele between NAFLD group and control group (P0.05). Compared with wild type-455TT or-482 CCs, genotypes with mutant loci did not increase the risk of NAFLD. After adjusting for confounding factors by multivariate Logistic regression analysis, the ratio of NAFLD to OR (95%CI) was 1.06 (95CI: 0.72-1.57) in the genotype carriers with -455Cn-482T allele, respectively. 1.00 (95 CI: 0.68-1.48). There was strong linkage disequilibrium between the two loci (DX 0.943). The clinical data and biological parameters were as follows: APOC3 protein content (13.94 卤2.01vs.14.38 卤1.92), insulin content (1.42 卤0.43vs.1.48 卤0.52). The level of liver enzyme and TAS (13.94 卤2.01vs.14.38 卤1.92) were not significantly different in the wild type group and the group with mutation site (P0.05). Except for the changes of the indexes caused by PNPLA3rs738409 locus mutation, the above results had no obvious change. Conclusion the polymorphism of two loci in the promoter region of APOC3 gene is not associated with the risk of NAFLD, lipid accumulation, insulin resistance and oxidative stress in Qingdao Han population.
【学位授予单位】：青岛大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R575.5
本文编号：2307883
[Abstract]:Objective to investigate the relationship between the polymorphism T-455CnC-482T in the promoter region of APOC3 gene and the (NAFLD) susceptibility to non-alcoholic fatty liver disease in Qingdao Han population. Methods Polymerase chain reaction (PCR) and genotyping were used to detect APOC3rs2854116,rs2854117 and PNPLA3rs738409 loci in 390 patients with NAFLD and 409 normal controls. The Hardy-Weinberg (H-W) balance rule was used to analyze whether the two groups had population representativeness, and their serological indexes and insulin resistance (IR, HOMA-IR) were measured. The content of APOC3 protein in plasma was determined by enzyme linked immunosorbent assay (ELISA). The genotype frequency, allele frequency, relative clinical data and total antioxidant capacity of APOC3 were compared between each group except for the mutation of PNPLA3rs738409 locus. The linkage disequilibrium between two APOC3 loci was detected by Haploview software and statistically analyzed by SPSS17.0 software. Results there was no significant difference in the distribution frequency of APOC3rs2854116,rs2854117 locus genotype and allele between NAFLD group and control group (P0.05). Compared with wild type-455TT or-482 CCs, genotypes with mutant loci did not increase the risk of NAFLD. After adjusting for confounding factors by multivariate Logistic regression analysis, the ratio of NAFLD to OR (95%CI) was 1.06 (95CI: 0.72-1.57) in the genotype carriers with -455Cn-482T allele, respectively. 1.00 (95 CI: 0.68-1.48). There was strong linkage disequilibrium between the two loci (DX 0.943). The clinical data and biological parameters were as follows: APOC3 protein content (13.94 卤2.01vs.14.38 卤1.92), insulin content (1.42 卤0.43vs.1.48 卤0.52). The level of liver enzyme and TAS (13.94 卤2.01vs.14.38 卤1.92) were not significantly different in the wild type group and the group with mutation site (P0.05). Except for the changes of the indexes caused by PNPLA3rs738409 locus mutation, the above results had no obvious change. Conclusion the polymorphism of two loci in the promoter region of APOC3 gene is not associated with the risk of NAFLD, lipid accumulation, insulin resistance and oxidative stress in Qingdao Han population.
【学位授予单位】：青岛大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R575.5
【参考文献】
相关期刊论文 前2条
1 光吉博RG;谷仁烨;;氧化应激的病理生理作用[J];日本医学介绍;2007年04期
2 ;Prevalence of fatty liver disease and its risk factors in the population of South China[J];World Journal of Gastroenterology;2007年47期
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