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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。
Objective: To investigate the role of interleukin-8 (IL-8) -251A / T polymorphism in the pathogenesis of endometriosis. Methods: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and pyrosequencing were used to investigate the association between IL-8 gene-251A in 152 patients with endometriosis and 134 normal endometrium / T polymorphism distribution. Results: The frequencies of AA, AT and TT genotypes in IL-8 gene -251A / T polymorphism were 12.5%, 46.1% and 41.5% in endometriosis group respectively. The frequencies of alleles A and T 35.5% and 64.5% respectively. The frequencies of AA, AT and TT genotypes in the control group were 24.6%, 41.0% and 34.3%, respectively. The frequencies of alleles A and T were 45.1% and 54.9%, respectively. IL-8 gene -251A / T SNP was an independent risk factor for endometriosis (P <0.05); the risk of endometriosis was higher in carriers of the A allele P <0.05). CONCLUSIONS: IL-8 gene -251A / T single nucleotide polymorphism is associated with the incidence of endometriosis in Chinese Han population in northern China. The A allele is important for the pathogenesis of endometriosis Genetics markers.