白细胞介素18基因多态性与不明原因复发性流产的关系

目的：探讨人白细胞介素18（IL-18）基因位点多态性与不明原因复发性流产（URSA）的关系。方法：选取207例URSA患者和144例健康妊娠妇女进行研究。通过PCR联合DNA测序技术分析两组人群IL-18基因rs187238（-137G/C）、rs360718（-119A/C）、rs360717（-105G/A）位点多态性分布情况。 结果：URSA组rs187238（-137G/C）位点GG、GC+CC 基因型分布频率分别为77.3%、22.7%，与对照组GG、GC+CC 基因型分布频率（95.8%、4.2%） 比较， 差异有统计学意义（χ2=22.767， P<0.001） ；URSA组rs187238（-137G/C）位点C 等位基因频率为13.04%， 与对照组C 等位基因频率2.1%比较，差异亦有统计学意义（χ2=26.102，P <0.001） ；等位基因频率相对风险率分析发现，C等位基因携带者其自然流产的风险是G等位基因携带者的7.050倍（OR=7.050，95%CI: 2.990 ～16.622） 。rs360718、rs360717位点基因型分布与对照组差异均无统计学意义（χ2=1.497、0.858，P=0.221、0.354）；两组间rs360718、rs360717位点等位基因分布频率的差异亦均无统计学意义（均P>0.05）。 结论：IL-18基因启动子rs187238（-137G/C）位点GC+CC基因型可能是复发性流产易感基因型， C等位基因可能是URSA发病的遗传易感基因之一；IL-18 基因rs360718、rs360717 位点多态性与URSA可能无相关性。

Relationship between IL-18 gene polymorphism and unexplained recurrent spontaneous abortion

Objective： To investigate the association between IL-18 polymorphisms and the risk of unexplained recurrent spontaneous abortion （URSA）. Methods： The polymorphism of rs187238，rs360718 and rs360717 in IL-18 was determined by PCR in combination with DNA sequencing in 207 patients with URSA and 144 women with normal pregnancy. Results： The frequency of gene types GG, GC+CC of rs187238（-137 G/C) in URSA group and control group was 77.3%, 22.7%，and 95.8%, 4.2% , respectively (χ2 =22.767, P<0.001). The frequency of allele C in URSA group was significantly higher than that in control groups (13.04% vs 2.1%, χ2=26.102，P <0.001) . The risk of spontaneous abortion in C allele carriers was 7.050 times higher than that in G allele carriers (OR=7.050, 95%CI: 2.990-16.622). No significant difference in genotype frequency and allele frequency of rs360718 and rs360717 polymorphism was noticed between URSA group and control group（χ2 =1.497, P=0.221; χ2 =0.858, P=0.354）. Conclusion： GC+CC genotype and C allele of Rs187238 in IL-18 gene are associated with the susceptibility of recurrent spontaneous miscarriage. Rs360718 and rs360717 in IL-18 may not be associated with URSA.