ABSTRACT
<p><b>OBJECTIVE</b>To investigate the distribution of estrogen receptor beta (ERbeta) gene polymorphisms between the Uygurs and the Hans in Urumqi and the association of the polymorphisms with intrahepatic cholestasis of pregnancy (ICP).</p><p><b>METHODS</b>ICP cases and controls from a hospital were recruited from April 2008 to April 2011,and a total of 105 ICP patients in Uygurs case group and 105 ICP patients in Hans case group were randomly selected, meanwhile, 105 Uygurs and 105 Hans healthy pregnant women were recruited as control group. The distribution of Rsa I and Alu I of ERbeta gene polymorphism were analyzed by PCR amplification and restriction and other molecular biology approaches. Data were analyzed by chi2 and Fisher exact probability.</p><p><b>RESULTS</b>In Uygurs case group, the genotype frequencies of rr, Rr,RR,aa, Aa and AA were 39.0% (41 cases), 50.5% (53 cases), 10.5% (11 cases), 62.7% (66 cases), 30.5% (32 cases), 6.8% (7 cases). In Uygurs control group, the frequencies were 21.0% (22 cases), 56.2% (59 cases), 22.8% (24 cases), 80.0% (84 cases), 18.1% (19 cases), 1.9% (2 cases). In Hans case group, the genotype frequencies of rr, Rr, RR, aa, Aa and AA were 40. 0% (42 cases), 45.7% (48 cases), 14.3% (15 cases), 66.7% (70 cases), 29.5% (31 cases), 3.8% (4 cases). In Hans control group,the frequencies were 29.5% (31 cases), 57.2% (60 cases), 13.3% (14 cases), 74.2% (78 cases), 23.8% (25 cases), 2.0% (2 cases). The genotype frequencies were not statistically significant between the two case groups and between the two control groups (all P values > 0.05), and between two Hans groups (P > 0.05). The frequencies of RRaa in the Uygur case group was lower(4. 76% ,5 cases)than control group (13.33%, 14 cases) (P <0.05), while the frequencies of rrAa in the Uygur case group was significantly higher (14. 29% ,15 cases)than control group (2.86%, 3 cases) (all P values < 0.05).</p><p><b>CONCLUSION</b>The distribution of ERbeta gene polymorphism is of no significant difference between the Uygurs and Hans, ERbeta gene polymorphism may correlate with pathogenesis of ICP in the Uygurs other than in the Hans, and rrAa might be risk factor for ICP in the Uygurs.</p>