IL-12B多态性与卵巢子宫内膜异位症遗传易感性的关联研究

Relationship between IL-12B polymorphisms and genetic susceptibility to ovarian endometriosis

本研究通过病例-对照研究探讨了IL-12B多态性与卵巢子宫内膜异位症(endometriosis,EMT)遗传易感性的关系。应用多重聚合酶连接反应-连接酶检测反应(polymerase chain reaction-ligase detection reaction,PCR-LDR)技术对700例卵巢EMT患者和700例健康对照者IL-12B rs17860508和rs3212227位点进行多态性检测。同时采用qRT-PCR技术检测45例携带不同基因型患者在位内膜组织中IL-12B mRNA表达水平。结果显示,IL-12B启动子区rs17860508多态性位点的基因型和等位基因频率在病例组和对照组间分布差异均有统计学意义(P=0.018,P=0.013)。与CTCTAA/CTCTAA基因型相比,GC/CTCTAA和GC/GC基因型能显著增加卵巢EMT的发病风险(OR=1.38,95%CI=1.07~1.78;OR=1.47,95%CI=1.09~1.98);携带GC等位基因的人群较携带CTCTAA等位基因者有较高的患病风险(OR=1.21,95%CI=1.04~1.41)。另外,携带GC/GC基因型的患者在位内膜组织中IL-12B mRNA的表达水平显著高于携带GC/CTCTAA和CTCTAA/CTCTAA基因型的患者(P=0.032)。而rs3212227位点基因型和等位基因频率在病例组和对照组人群中的分布差异无统计学意义。因此,IL-12B启动子区rs17860508多态性位点可能与卵巢EMT的发病风险有关。

This study examined the relation between the polymorphisms of IL-12B and the genetic susceptibility of ovarian endometriosis(EMT)using a case-control study.The polymorphisms of rs17860508 and rs3212227 of IL-12B in 700 patients with ovarian EMT and 700 healthy controls were detected by polymerase chain reaction-ligase detection reaction(PCR-LDR).The level of IL-12B mRNA expression in patients’eutopic endometrial tissues was detected by qRT-PCR.The genotype and allele frequency of rs17860508 polymorphism in IL-12B promoter region were statistically different between case and control group(P=0.018,P=0.013).Compared with the CTCTAA/CTCTAA genotype,the GC/CTCTAA and GC/GC genotypes of rs17860508 could significantly increase the risk of ovarian endometriosis development(OR=1.38,95%CI=1.07—1.78;OR=1.47,95%CI=1.09—1.98,respectively).People carried with the GC allele had a higher risk of ovarian endometriosis than those with the CTCTAA allele(OR=1.21,95%CI=1.04—1.41).Moreover,the IL-12B mRNA was expressed at significantly higher levels in the eutopic endometrial tissue of patients with the GC/GC genotype than in patients with the GC/CTCTAA and CTCTAA/CTCTAA genotypes(P=0.032).However,there was no significant difference in the allele and genotype distribution of the rs3212227 polymorphism between the EMT patients and the control objects.In conclusion,the rs17860508 polymorphism in IL-12B promoter region may be associated with the risk of ovarian endometriosis.