白介素-18基因启动子区rs1946519位点多态性与不明原因复发性流产的关系研究  

Relationship Between Polymorphisms on rs1946519 in the Promoter Region of Interleukin-18 Gene and Unexplained Recurrent Spontaneous Abortion

作　　者：郑秀梅 朱敏[2] 洪剑鑫 范厉龙[2] 许嘉川 何欣威[2] 冯明宣 

机构地区：[1]乐清市人民医院检验科,325600 [2]温州医科大学附属台州医院医学研究中心,临海317000

出　　处：《医学研究杂志》2016年第7期72-75,共4页Journal of Medical Research

基　　金：浙江省乐清市科技项目(2014Y004)

摘　　要：目的探讨浙江地区汉族人群人白细胞介素-18（interleukin-18，IL-18）基因启动子区rs1946519位点多态性的分布及与不明原因复发性流产易感性的关系。方法选取135例不明原因复发性流产患者，提取基因组DNA，应用PCR和基因测序法测定IL-18基因rsl946519位点的多态性情况，并以126例健康妊娠女性为对照。结果不明原因复发性流产组人群IL-18基因rsl946519位点AA、AC、CC基因型的分布频率分别为27．4％、38．5％和34．1％，而健康妊娠的对照组人群AA、AC、CC3个基因型的分布频率分别为19．0％、58．7％和22．2％，两组间差异有统计学意义（r=10．693，P=0．005）；其中突变后纯合子cc基因型在不明原因复发性流产组的分布频率明显高于对照组，且两组间差异有统计学差异（X2=4．507，P=0．034；OR：1．809，95％CI：1．043～3．137）。另，不明原因复发性流产组rs1946519位点A、C等位基因频率分别为48．4％、51．6％，与对照组（46．7％、53．3％）比较，两组间差异无统计学意义（X2=0．159，P=0．690）。结论IL-18基因rs1946519位点基因型分布频率在不明原因复发性流产患者和健康妊娠女性中存有差异，CC基因型可能是不明原因复发性流产的易感基因型。Objective To assess the association between the polymorphism, located at rs1946519 in the promoter region of human Interleukin- 18 （IL- 18） gene, and the predisposition of unexplained recurrent spontaneous abortion （URSA）on Han Zhejiang women. Methods Totally 135 women with URSA were enrolled in the URSA group. Meanwhile, 126 women with normal pregnancy were selected to comprise the control group. Then genomic DNA was extracted, polymerase chain reaction and DNA sequencing were used to determine the polymorphism of rs1946519. Results Significant statistical difference of the AA, AC and CC genotype frequency distribution, located at rs1946519 in the promoter region of human [nterleukin - 18 （IL - 18 ） gene, was found between the U RSA group and the control group （the URSA group 27.4%, 38.5% , 34.1%, compared with the control group 19.0%, 58.7% and 22.2% ,X2 =10.693, P=0.005）; Besides, the distribution frequency of CC genotype in the group of URSA was higher than the control group obviously with a significant sta- tistical discrepancy. （X2 = 4. 507, P = 0. 034 ; OR = 1. 809, 95% CI ： 1. 043 - 3. 137）. However, between the two groups mentioned a- bove, no significant statistical difference was found in the distribution frequency of C allele on rs1946519 locus （ the URSA group 48.4% , 51.6% ,compared with the control group 46.7% ,53.3% , X2 = 0. 159, P = 0. 690）. Conclusion The difference of genotype frequency distribution, located at rs1946519 in the interleukin- 18 （IL- 18） gene, was found between the URSA group and the control group, the CC genotype may be one of the susceptibility genes of URSA.

关 键 词：不明原因复发性流产 白细胞介素-18 多态性 

分 类 号：R714.21[医药卫生—妇产科学]