【摘要】：目的探討青島地區(qū)漢族人群中APOC3基因啟動子區(qū)兩位點(diǎn)多態(tài)性T-455C、C-482T與非酒精性脂肪性肝病(NAFLD)遺傳易感性的相關(guān)性。 方法對390例NAFLD患者和409名正常對照采用多聚酶鏈反應(yīng)(PCR)及基因型檢測方法對APOC3rs2854116、rs2854117位點(diǎn)及PNPLA3rs738409位點(diǎn)進(jìn)行基因型檢測,通過Hardy-Weinberg (H-W)平衡法則分析兩組基因型是否有群體代表性,并測量其血清學(xué)指標(biāo)及胰島素抵抗水平(IR, HOMA-IR)。隨機(jī)選取180人采用酶聯(lián)免疫吸附試驗(ELISA)測定血漿中APOC3蛋白的含量。除外PNPLA3rs738409基因位點(diǎn)突變外,比較各組APOC3兩位點(diǎn)基因型頻率、等位基因頻率、相關(guān)臨床資料及總抗氧化能力的差異。應(yīng)用Haploview軟件進(jìn)行APOC3兩位點(diǎn)之間的連鎖不平衡檢測,采用SPSS17.0軟件進(jìn)行統(tǒng)計學(xué)分析。 結(jié)果APOC3rs2854116、rs2854117位點(diǎn)基因型及等位基因在NAFLD組與對照組中的分布頻率差異無統(tǒng)計學(xué)意義(P0.05)。相對于野生型-455TT或-482CC,含突變位點(diǎn)基因型未增加NAFLD的發(fā)病風(fēng)險。經(jīng)多變量Logistic回歸分析校正混雜因素后,含等位基因-455C、-482T的基因型攜帶者發(fā)生NAFLD的比值比OR(95%CI)分別為：1.06(95%CI:0.72-1.57,P0.05)、1.00(95%CI:0.68-1.48,P0.05)。兩位點(diǎn)存在強(qiáng)的連鎖不平衡(D'=0.943),臨床資料及各生物指標(biāo)如：APOC3蛋白含量(13.94±2.01vs.14.38±1.92),胰島素含量(1.42±0.43vs.1.48±0.52),肝酶水平以及TAS(13.94±2.01vs.14.38±1.92)在野生型組及含突變位點(diǎn)組中均未見明顯差異(P0.05)。除外PNPLA3rs738409基因位點(diǎn)突變引起的各指標(biāo)變化外,以上結(jié)果無明顯改變。 結(jié)論在青島地區(qū)漢族人群中,APOC3基因啟動子區(qū)兩位點(diǎn)的多態(tài)性與NAFLD的發(fā)病風(fēng)險、脂質(zhì)的聚集、胰島素抵抗水平以及氧化應(yīng)激無明顯相關(guān)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 鹵2.01vs.14.38 鹵1.92), insulin content (1.42 鹵0.43vs.1.48 鹵0.52). The level of liver enzyme and TAS (13.94 鹵2.01vs.14.38 鹵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.
【學(xué)位授予單位】：青島大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2014
【分類號】：R575.5

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本文編號：2307883