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

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。

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

OBJECTIVE: To investigate whether interleukin-1 beta (IL-1beta ) 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-1 beta-511 promoter, IL-1 beta exon 5, and IL-1RA were detected by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). RESULT: There were no significant differences about the distribution of the genotypes and alleles of IL-1 beta -511 promoter and IL-1 beta exon 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-1 beta-511 promoter,IL-1 beta exon 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.