Li Man, Li Fang, Li Na, Sang Jiao, Fan Xiude, Deng Huan, Zhang Xiaoge, Han Qunying, Lv Yi, Liu Zhengwen
Department of Infectious Diseases, First Affiliated Hospital of Xi'an Jiaotong University, No. 277 Yanta West Road, Xi'an, 710061, Shaanxi Province, People's Republic of China.
Department of Internal Medicine, Xi'an No. 3 Hospital, Xi'an, 710018, Shaanxi, People's Republic of China.
BMC Med Genet. 2018 Apr 2;19(1):52. doi: 10.1186/s12881-018-0569-x.
Signal transducer and activator of transcription 3 (STAT3) is involved in hepatitis B virus (HBV) infection and HBV-related hepatocellular carcinoma (HCC). The association between polymorphism rs1053005 and haplotypes formed by rs1053004 and rs1053005 in the 3'UTR of STAT3 and chronic HBV infection has yet to be investigated.
This study included 567 patients with chronic HBV infection (239 chronic hepatitis, 141 liver cirrhosis and 187 HCC), 98 HBV infection resolvers, and 169 healthy controls. STAT3 rs1053004 and rs1053005 polymorphisms were genotyped by TaqMan SNP Genotyping Assays.
The rs1053004 genotype CC [P value by Bonferroni correction (P ) = 0.002] and allele C (P = 0.019) were more frequent in patients with chronic HBV infection than in healthy controls. The rs1053005 genotype GG was also more frequent in patients with chronic HBV infection than in healthy controls (P = 0.046). The rs1053004-rs1053005 haplotype T-G was less frequent in patients with chronic HBV infection than in healthy controls (P < 0.001). Haplotype C-A was more frequent in patients with liver cirrhosis than in patients with HCC (P = 0.042). The rs1053004 genotype TC, rs1053005 genotype AG and rs1053004-rs1053005 haplotype T-A were associated with higher HBV DNA levels.
STAT3 rs1053004 and rs1053005 polymorphisms and haplotypes formed by rs1053004 and rs1053005 are associated with chronic HBV infection and the haplotypes appear to be also associated with the development of liver disease. Studies in large sample sizes of patients and control populations are required to verify and extend these findings.
信号转导与转录激活因子3(STAT3)参与乙型肝炎病毒(HBV)感染及HBV相关肝细胞癌(HCC)的发生。STAT3基因3'非翻译区(UTR)中rs1053005多态性以及由rs1053004和rs1053005形成的单倍型与慢性HBV感染之间的关联尚待研究。
本研究纳入567例慢性HBV感染患者(239例慢性肝炎、141例肝硬化和187例HCC)、98例HBV感染康复者及169例健康对照。采用TaqMan SNP基因分型检测法对STAT3 rs1053004和rs1053005多态性进行基因分型。
慢性HBV感染患者中rs1053004基因型CC[经Bonferroni校正的P值(P )=0.002]和等位基因C(P =0.019)的频率高于健康对照。慢性HBV感染患者中rs1053005基因型GG频率也高于健康对照(P =0.046)。慢性HBV感染患者中rs1053004 - rs10530'05单倍型T - G的频率低于健康对照(P<0.001)。肝硬化患者中C - A单倍型的频率高于HCC患者(P =0.042)。rs1053004基因型TC、rs1053005基因型AG以及rs1053004 - rs1053005单倍型T - A与较高的HBV DNA水平相关。
STAT3 rs1053004和rs1053005多态性以及由rs1053004和rs1053005形成的单倍型与慢性HBV感染相关,且这些单倍型似乎也与肝病的发生有关。需要在更大样本量的患者和对照人群中进行研究以验证和扩展这些发现。