Wei Y-L, Tian Q, Zhao X-X, Qiu G-Z, Xu Y
Department of Infectious Diseases, Linyi People's Hospital, Linyi, China.
Braz J Med Biol Res. 2017 May 15;50(6):e5758. doi: 10.1590/1414-431X20175758.
This study aimed to determine the role of mitofusin 2 (MFN2) gene polymorphisms in the risk and prognosis of acute liver failure (ALF). A total of 298 blood samples were collected from 138 ALF patients (case group) and 160 healthy participants (control group). Coagulation function, glutamic pyruvic transaminase (GPT), glutamic oxaloacetic transaminase (GOT), total bilirubin (TB), blood ammonia and lactic acid (LA) were measured. The predictive evaluation of MFN2 gene polymorphisms in the risk and prognosis of ALF patients was estimated using Kaplan-Meier survival analysis, haplotype analysis, binary logistic regression analysis and Cox regression analysis. Higher levels of GPT, GOT, TB, blood ammonia and LA were observed in ALF patients with the GG genotype of rs873457 or the TT genotype of rs4846085 than in those with the CC genotype of these two SNPs. The GTACAGC and GTGTGGC haplotypes were a protective factor and a risk factor for ALF, respectively. Blood ammonia and LA levels were independent risk factors and the CC genotype of rs873457 and the CC genotype of rs4846085 were protective factors for ALF. ALF patients with the GG genotype of rs873457 or the TT genotype of rs4846085 had a lower survival rate than those with other genotypes of these two SNPs. The rs4846085 and rs873457 polymorphisms were both independent factors affecting the prognosis of ALF patients. MFN2 gene polymorphisms (rs873457, rs2336384, rs1474868, rs4846085 and rs2236055) may be associated with ALF and the rs873457 and rs4846085 polymorphisms are correlated with the risk and prognosis of ALF.
本研究旨在确定线粒体融合蛋白2（MFN2）基因多态性在急性肝衰竭（ALF）风险及预后中的作用。共收集了138例ALF患者（病例组）和160名健康参与者（对照组）的298份血样。检测了凝血功能、谷丙转氨酶（GPT）、谷草转氨酶（GOT）、总胆红素（TB）、血氨和乳酸（LA）。采用Kaplan-Meier生存分析、单倍型分析、二元logistic回归分析和Cox回归分析对ALF患者风险及预后中MFN2基因多态性进行预测评估。与rs873457的GG基因型或rs4846085的TT基因型的ALF患者相比，这两个单核苷酸多态性（SNP）的CC基因型患者的GPT、GOT、TB、血氨和LA水平更高。GTACAGC和GTGTGGC单倍型分别是ALF的保护因素和风险因素。血氨和LA水平是ALF的独立危险因素，rs873457的CC基因型和rs4846085的CC基因型是ALF的保护因素。rs873457的GG基因型或rs4846085的TT基因型的ALF患者的生存率低于这两个SNP其他基因型的患者。rs4846085和rs873457多态性均为影响ALF患者预后的独立因素。MFN2基因多态性（rs873457、rs2336384、rs1474868、rs4846085和rs2236055）可能与ALF相关，且rs873457和rs4846085多态性与ALF的风险及预后相关。
