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Open Access Research article

Estrogen receptor alpha gene polymorphisms and risk of HBV-related acute liver failure in the Chinese population

Zehui Yan1, Wenting Tan1, Yunjie Dan1, Wenli Zhao1, Chunqing Deng1, Yuming Wang1* and Guohong Deng12*

Author Affiliations

1 Institute of Infectious Diseases, Southwest Hospital, Third Military Medical University, Chongqing, 400038, P. R. China

2 Institute of Immunology, Third Military Medical University, Chongqing, 400038, P. R. China

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BMC Medical Genetics 2012, 13:49  doi:10.1186/1471-2350-13-49

Published: 24 June 2012



The sexual dimorphism of hepatitis B virus (HBV) -related liver diseases is related with estrogen and its receptors. Recent reports indicate that abnormal expression of estrogen receptor alpha (ESR1) may be a hallmark for the progression of liver disease and HBV carriers presenting variant ESR1 have an extremely aggressive clinical course. Here we examine whether the ESR1 polymorphisms or its haplotypes are related to HBV-related acute liver failure (ALF) risk among chronic HBV carriers in a Chinese population.


A total of 1216 unrelated Han Chinese HBV carriers were recruited in this hospital-based case–control study, including 359 HBV surface antigen (HBsAg) carriers affected with ALF and 857 asymptomatic HBsAg carriers. Two ESR1 haplotype tagging polymorphisms, c.30 T > C (rs2077647) and c.453-397 T > C (rs2234693), were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay.


We observed a significantly increased susceptibility to HBV-ALF associated with the c.30 C allele (P = 8.65 × 10-4), c.453-397 C allele (5.37 × 10-4) and [c.30 C; c.453-397 C] haplotype (Dominant model, P =0.0004, odds ratio = 1.53, 95% CI 1.23 ~ 1.96) compared with the T alleles and [c.30 T; c.453-397 T] haplotype of c.30 T > C and c.453-397 T > C polymorphisms, respectively.


Our study suggests that [c.30 C; c.453-397 C] hapotype may be a risk factor for genetic susceptibility to HBV-related ALF in the Chinese population. It also emphasizes the importance of ESR1 in the pathophysiology of HBV-related ALF on the population level.