摘要目的 分析子宫内膜异位症(endometriosis,EMs)患者白细胞介素10(interleukin-10,IL-10)的启动子区域转录起始位点上游第1082位点G→A、819位点C→T及592位点C→A多态性,探讨其与EMs易感性之间的关系.方法 应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测EMs组214例和正常对照组160名健康人的启动子区域转录起始位点上游的第1082位点G→A、819位点C→T及592位点C→A碱基转换,采用SPSS11.0软件包统计分析各位点的基因型分布和等位基因频率.结果 IL-10-1082位点的多态性在EMs组(AA:87.90%;GA:12.10%)与对照组(AA:87.50%;GA:12.50%)的基因频率差异无统计学意义(x2=0.01,P=0.919).EMs组和对照组的IL-10-819 TT、CT、CC型基因频率均依次等同于IL-10-592的AA、CA、CC基因型.IL-10-819和-592基因型在EMs组分布(TT或AA:41.12%;CT或CA:47.66%;CC:11.21%)与对照组(TT或AA:53.75%;CT或CA:37.50%、CC:8.75%)差异无统计学意义(x2=5.87,P=0.053).但患者组IL-10-819的CT及-592的CA基因型频率较对照组增高,差异有统计学意义(校正后OR=1.88,95%CI=1.10～3.21,x2=5.24,P=0.021),-819和-592位点的C等位基因与EMs发病风险具有显著相关性(OR=1.42,95%CI=1.04～1.95,x2=4.81,P=0.028).EMs组IL-10-819(-592)位点的CC(CC)、CT(CA)基因型患者的血清中IL-10水平较TT(AA)基因型高[CA/CT:(50.12±82.40)pg/ml,CC(91.00±118.23)pg/ml,TT/AA(21.45±22.10)pg/ml],差异有统计学意义(F=2.492,P=0.048;F=1.852,P=0.008).结论 IL-10-592C及-819C等位基因与IL-10高表达相关,并与EMs的易感性具相关性,也与EMs的发病风险相关.

abstractsObjective To explore the relationship of the endometriosis susceptibility and polymorphism of up stream of IL-10 promoter at the site of 1082( G→A), 819(C→T) and 592(C→A).Methods A total of 214 patients with endometriosis and 160 healthy individuals were enrolled and divided into patient group and control group in this study.The polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) was applied to detect the base transition in the up stream of IL-10 promoter at the site of 1082 ( G→A), 819 (C→T) and 592 ( C→A ).SPSS11.0 software was applied to analysis frequencies of all genotypes.Results There was no difference in polymorphism of IL-10-1082 between the endometriosis ( AA :87.90%, GA: 12.10% ) and control group( AA: 87.50%, GA: 12.50% ).The rate of TT, CT and CC genotype IL-10-819 was the same as the AA, CA and CC individually.There was no difference in the polymorphism of IL-10-819 or IL-10-592 between the endometriosis group( TT or AA:41.12%, CT or CA:47.66%, CC:11.21%) and control group(χ2 =5.87,P=0.053).However, there were significant difference in the genotype of CT of IL-10-819 or CA of IL-10-592 between the endometriosis group and control group(after adjust OR = 1.88, 95% CI = 1.10 - 3.21, χ2 = 5.24, P = 0.021 ), and the allele C of IL-10-819 or IL-10-592 were close related with occurrence of endometriosis (OR= 1.42,95% CI = 1.04 - 1.95, χ2 = 4.81, P = 0.028 ).The IL-10 level in the plasma of endometriosis group with genotype of CC (CC), CT (CA) of IL-10-819(-592) were significant higher than those with TT (AA)(CA/CT:(50.12±82.40) pg/ml, CC: (91.00 ± 118.23) pg/ml, TT/AA: (21.45 ±22.10) pg/ml)(F=2.492,P=0.048;F=1.852,P=0.008).Conclusion The allele C of IL-10-819 or IL-10-592 was close related to the high level expression of IL-10, and it is the risk of the occurrence of endometriosis.