过氧化物酶体增殖激活物受体γ辅激活因子1αrs8192678位点单核苷酸多态性与非酒精性脂肪性肝病发病风险的关系

Association of peroxisome proliferator-activated receptor gamma coactivator 1 alpha rs8192678 single nucleotide polymorphism with the risk of nonalcoholic fatty liver disease

目的探讨过氧化物酶体增殖激活物受体γ辅激活因子1α(PPARGC1A)rs8192678单核苷酸多态性(SNP)与非酒精性脂肪性肝病(NAFLD)发病风险的关系以及该位点SNP对相关生化指标的影响。方法选取2017年12月-2018年12月在青岛市市立医院就诊的NAFLD患者119例,并选取同期健康体检者213作为对照。采集所有受试者的临床数据和血液样本,检测血液样本的生化指标和PPARGC1A rs8192678位点SNP。采用χ^2检验判断样本的基因型分布是否符合Hardy-Weinberg平衡法则。计量资料两组间比较采用t检验或Wilcoxon秩和检验。计数资料两组间比较采用χ^2检验。采用二元logistic回归分析NAFLD发生的危险因素。结果NAFLD组和对照组PPARGC1A rs8192678位点的基因型与等位基因分布差异均无统计学意义(χ^2值分别为0.011、0.015,P值分别为0.918、0.904)。二元logistic回归分析显示,PPARGC1A rs8192678位点CT基因型不是NAFLD发生的危险因素(比值比=0.951,95%可信区间:0.368~2.457,P=0.918)。在NAFLD组中,CT基因型携带者的GGT水平较CC基因型携带者显著升高(Z=-2.331,P=0.020)。结论PPARGC1A rs8192678位点SNP未增加NAFLD的发病风险,在NAFLD患者中CT基因型可增加血清中GGT水平。

Objective To investigate the association of peroxisome proliferator-activated receptor gamma coactivator 1 alpha(PPARGC1A)rs8192678 single nucleotide polymorphism(SNP)with the risk of nonalcoholic fatty liver disease(NAFLD)and the influence of PPARGC1A rs8192678 SNP on NAFLD-related biochemical parameters.Methods A total of 119 NAFLD patients who attended Qingdao Municipal Hospital Affiliated to Qingdao University from December 2017 to December 2018 were enrolled as NAFLD group,and 213 individuals who underwent physical examination during the same period of time were enrolled as control group.Clinical data and blood samples were collected from all subjects to measure related biochemical parameters and detect PPARGC1A rs8192678 SNP.The chi-square test was used to determine whether the genotype distribution of samples was in accordance with the Hardy-Weinberg equilibrium.The t-test or the Wilcoxon rank-sum test was used for comparison of continuous data between two groups,and the chi-square test was used for comparison of categorical data between two groups.A binary logistic regression analysis was used to investigate the risk factors for NAFLD.Results There were no significant differences in the genotype and allele frequencies of PPARGC1A rs8192678 between the NAFLD group and the control group(χ^2=0.011 and 0.015,P=0.918 and 0.904).The binary logistic regression analysis showed that CT genotype of PPARGC1A rs8192678 was not a risk factor for NAFLD(odds ratio=0.951,95%confidence interval:0.368-2.457,P=0.918).In the NAFLD group,the patients carrying CT genotype had a significantly higher level of gamma-glutamyl transpeptidase(GGT)than those carrying CC genotype(Z=-2.331,P=0.020).Conclusion PPARGC1A rs8192678 SNP does not increase the risk of NAFLD,while NAFLD patients carrying CT genotype tend to have a higher serum level of GGT.