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BMC Medical Genetics 2012
Estrogen receptor alpha gene polymorphisms and risk of HBV-related acute liver failure in the Chinese populationAbstract: 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.
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