摘要目的 探讨卵泡刺激素受体基因(FSHR)rs1394205多态性和酪氨酸羟化酶基因(TH)rs2070762多态性与子痫前期(PE)发病的关系.方法 采用TaqMan探针法,对105例PE患者和103例正常妊娠妇女的FSHR rs1394205多态性和TH rs2070762多态性位点进行基因型分析.结果 PE组FSHR rs1394205的基因型频率CC、CT、TT分别为23.8%、50.5%、25.7%,等位基因频率C、T分别为49.0%,51.0%.对照组基因型频率CC、CT、TT分别为23.3%、52.4%、24.3%,等位基因频率C、T分别为49.5%,50.5%,两组比较差异无统计学意义(P＞0.05);PE组TH基因rs2070762基因型频率CC、CT、TT分别为18.1%、56.2%、25.7%,等位基因频率C、T分别为46.2%,53.8%.对照组基因型频率CC、CT、TT分别为14.6%、42.7%、42.7%,等位基因频率C、T分别为35.9%、64.1%,两组比较PE组TT基因型频率和等位基因T频率明显低于对照组(P＜0.05).rs1394205和rs2070762均与PE疾病严重程度差异不明显.结论 TH基因rs2070762多态性(基因型,TT和等位基因T)可能是PE的保护性因素,FSHR基因rs1394205多态性与PE发病无关,2个SNP位点与PE的发病程度均无关.

abstractsObjective To analyze a potential association of gene polymorphisms of the folliclestimulating hormone receptor (FSHR) gene rs1394205 polymorphism and tyrosine hydroxylase (TH)rs2070762 polymorphism with pre-eclampsia. Methods The gene polymorphism of FSHR rs1394205 and TH rs2070762 were analyzed by real-time Quantitative polymerase chain reaction (TaqMan probe) in 105 patients with pre-eclampsia and 103 healthy pregnant subjects in Chinese Han population. Genotype and allele were assessed by direct counting methods. And the associations between 2 SNPs and pre-eclampsia were analyzed by chi-square test. Results The frequencies of the TH gene rs2070762 polymorphism CC, C/T and TT genotypes were 14. 6%, 42. 7% and 42. 7% in pre-eclampsia group and 18. 1%, 56. 2% and 25.7% in normal control group respectively. The allelic frequency of rs2070762 polymorphism in TH in preeclampsia patients was significantly lower ( P ＜ 0. 05 ) than that in normal pregnancies. There was a significant difference between two groups ( P ＜ 0. 05 ). But there was no significant difference between mild and severe pre-eclampsia groups ( P ＞ 0. 05 ). In contrast, no significant association was detected in the comparison of genotypes and allele of FSHR gene rs1394205 between pre-eclampsia patients and normal pregnancies. Conclusion The TH rs2070762 polymorphism was associated with the pathogenesis of preeclampsia. It suggests that the polymorphism in TH may be involved in the onset and development of preeclampsia.