ABSTRACT: To assess the association between estrogen receptor beta gene (ERβ) polymorphisms and intrahepatic cholestasis of pregnancy (ICP) in Chinese Uygur patients.
A total of 105 ICP patients and 105 healthy controls were recruited from April 2008 to April 2011. Polymorphisms of rs1256049 (Rsa I) and rs4986938 (Alu I) in ERβ gene were analyzed with PCR-restriction fragment length polymorphism (RFLP) method.
The frequencies of R allele were, respectively, 35.71% and 50.95% in ICP patients and controls. Odds ratio (OR) was 0.535 [95% confidence intervals (CI) = 0.3619-0.7910, P< 0.01]. Frequencies of A allele were, respectively, 21.43% and 10.95% in the patient and control groups. OR was 2.2174 (95% CI = 1.2866-3.8215, P<0.05).
ERβ gene polymorphisms are associated with ICP. R allele may confer a protective effect, whilst A allele may be a risk factor.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 06/2012; 29(3):319-22.