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目的：探讨白细胞介素8 基因（IL-8）-251A/T 多态性在子宫内膜异位症发生中的作用。方法：采用聚合酶链反应- 限制性片段长度多态性(PCR-RFLP)和焦磷酸测序方法，研究152 例子宫内膜异位症患者和134 例正常子宫内膜中IL-8 基因-251A/T 多态性的分布情况。结果：IL-8 基因-251A/T 多态位点的AA、AT 和TT 基因型在子宫内膜异位症组中分别为12.5 %、46.1 %、41.5 %，等位基因A 和T 的频率分别为35.5 %、64.5 %；在对照组中AA、AT 和TT 三种基因型分布频率分别为24.6%、41.0 %、34.3 %，等位基因A 和T 的频率分别为45.1%、54.9 %。IL-8 基因-251A/T 单核苷酸多态是子宫内膜异位症发病的独立的危险因素（P<0. 05）；A 等位基因携带者患子宫内膜异位症的风险增高（P<0.05）。结论：在中国北方汉族人群中IL-8 基因-251A/T 单核苷酸多态性与子宫内膜异位症的发病具有相关性，A 等位基因是子宫内膜异位症发病重要的遗传学标记。

英文摘要:

Objective: To evaluate the effect of IL-8 gene polymorphisms in the pathogenesis of endometriosis. Methods: The distribution of IL-8 gene -251A/T polymorphisms in 152 specimens of endometriosis and 134 specimens of normal endometrium was determined by RFLP-PCR and DNA sequencing. Results: IL-8 gene -251A/T polymorphism of the AA, AT and TT genotypes in the endometriosis group was 12.5%, 46.1% and 41.5%, while A and T allele frequencies were 35.5% and 64.5%, respectively. Genotypes in healthy adults were 24.6%, 41.0%, 34.3%, A and T allele frequencies were 45.1% and 54.9% respectively. The distribution of IL-8 gene -251 A/T polymorphism in the two groups was significantly different (P<0.05); the risk of endometriosis was markedly higher in the A allele carriers than that in the T allele carriers. Conclution: The finding suggests that there is significant correlation between IL-8 gene -251A/T polymorphisms and the pathogenesis of endometriosis.

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