白细胞介素-1家族基因多态性与子宫内膜异位症的相关性研究  

Research on relationship between gene polymorphisms of interleukin-1 family and endometriosis

作　　者：温洁[1] 邓琳[1] 张信美[1] 林俊[1] 

机构地区：[1]浙江大学医学院附属妇产科医院,浙江杭州310006

出　　处：《浙江大学学报（医学版）》2006年第6期653-657,共5页Journal of Zhejiang University(Medical Sciences)

基　　金：浙江省自然科学基金项目(2002-302756)

摘　　要：目的：探讨白细胞介素1（interleukin-1，IL-1）家族基因多态性与子宫内膜异位症（endometriosis，EMs）的相关性。方法：用聚合酶链式反应技术（PCR）及限制性片断长度多态性（RFLP），对138例EMs患者及100例对照者的IL-1β基因-511和＋3953位点及IL-1RA基因进行分析。结果：EMs组IL-1β-511位点的基因型（C／C、C／T、T／T）频率和等位基因（C、T）频率，IL-1β＋3953位点基因型（C／C、C／T）及等位基因（C、T）频率与对照组比较，差异均无显著性（P〉0．05）。IL-1RA基因型A1／A1、A1／A2、A1／A4、A2／A2频率在EMs组和对照组分别为84．1％、12．3％、2．9％、0．7％和95％、4％、1％、0％，两组比较P=0．042；A1、A2、A4等位基因频率在两组间分别为91．7％、6．9％、1．4％和97．5％、2％、0．5％，两者比较均具有显著性差异（P=0．019）。A1／A2基因型个体患EMs的危险性是野生型A1／A1纯合子的3．48倍（95％CI：1．13～10．69），携带A2等位基因者患EMs的危险性是携带A1等位基因的3．66倍（95％CI：1．23～10．94）。结论：IL-1β-511及＋3953位点的基因多态性与中国浙江籍汉族EMs患者的遗传易感性无关联，而IL-1RA基因的A2型等位基因可能是EMs的易感因素之一。Objective： To investigate whether interleukin-1β （IL-1β） and interleukin-1 receptor antagonist （IL-1RA） gene polymorphisms are associated with endometriosis （EMs） in Chinese women. Methods： One hundred and thirty-eight patients with EMs and 100 women without EMs were enrolled in the study. Polymorphisms for IL-1β-511 promoter, IL-1βexon 5, and IL-1RA were detected by polymerase chain reaction （PCR） and restriction fragment length polymorphism （RFLP）. Results： There were no significant differences about the distribution of the genotypes and alleles of IL-1β-511 promoter and IL-1βexon 5 in two groups （P〉0.05）. The frequencies of A1/A1, A1/A2, A1/A4 and A2/A2 of IL-1RA gene were 84.1%, 12.3%, 2.9% and 0.7% in EMs and 95%, 4%, 1% and 0% in controls, respectively （P=0.042）. The A1,A2 and A4 alleles were 91.7%, 6.9% and 1.4% in EMs and 97.5%, 2% and 0.5% in controls （P=0.019）. In comparison with the reference genotype, the wild A1/A1 homozygote, the odds ratio for A1/A2 was 3.48 （95%CI：1.13～10.69）. Compared with the A1 allele, the odds ratio for the A2 allele was 3.66 （95%CI：1.23～10.94）. Conclusion： Association between the IL-1β-511 promoter, IL-1βexon 5 polymorphisms and EMs in China is not found. However, the A2 allele of IL-1RA gene may be one of the risk factors for the Chinese women in Zhejiang Province to suffer EMs.

关 键 词：子宫内膜异位症/遗传学 白细胞介素1/代谢 等位基因 多态性 限制性片段长度 聚合酶链反应 基因多态性 遗传易感性 

分 类 号：R711.71[医药卫生—妇产科学]