Laboratorio de Investigacao Medica em Hepatologia por Virus (LIM-47), Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, BR.
Laboratorio de Investigacao Medica em Hepatologia por Virus (LIM-47), Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, BR; Departamento de Molestias Infecciosas e Parasitarias, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, BR..
Diagn Microbiol Infect Dis. 2020 Jun;97(2):115025. doi: 10.1016/j.diagmicrobio.2020.115025. Epub 2020 Feb 19.
Host single nucleotide polymorphisms (SNPs) in different genes can play a role in chronic hepatitis C virus (HCV) infection and influence the presence of hepatic fibrosis and comorbidities such as hepatic steatosis. We assessed the combined effect of SNPs in the PNPLA3, MTTP, TM6SF2, and IFNL3/IFNL4 genes in 288 Brazilian patients who were chronically infected with HCV. Hepatic fibrosis was observed in 246 (85.4%) patients and hepatic steatosis in 141 (49.0%) patients. PNPLA3 rs738409 (CG/GG) (P = 0.044) and TM6SF2 rs58542926 (CT) (P = 0.004) were alone associated with fibrosis, and PNPLA3 rs738409 (P < 0.05, in distinct genetic models) was associated with steatosis. Multiple logistic regression of each SNP combined with HCV genotype 3 infection showed that MTTP rs1800591 (GT/TT) combined with HCV genotype 3 was associated with a 6.72-fold increased chance of hepatic steatosis (P = 0.013). In the analysis of SNPs combined 2 by 2, no influence on hepatic fibrosis or steatosis was observed.
宿主单核苷酸多态性 (SNP) 在不同基因中可能在慢性丙型肝炎病毒 (HCV) 感染中发挥作用，并影响肝纤维化和肝脂肪变性等合并症的存在。我们评估了 288 名巴西慢性 HCV 感染患者中 PNPLA3、MTTP、TM6SF2 和 IFNL3/IFNL4 基因中 SNP 的联合效应。246 名（85.4%）患者存在肝纤维化，141 名（49.0%）患者存在肝脂肪变性。PNPLA3 rs738409（CG/GG）（P=0.044）和 TM6SF2 rs58542926（CT）（P=0.004）单独与纤维化相关，而 PNPLA3 rs738409（在不同的遗传模型中 P<0.05）与脂肪变性相关。对每个 SNP 与 HCV 基因型 3 感染的多重逻辑回归显示，MTTP rs1800591（GT/TT）与 HCV 基因型 3 结合可使肝脂肪变性的几率增加 6.72 倍（P=0.013）。在 SNP 两两联合的分析中，未观察到对肝纤维化或脂肪变性有影响。
