中国汉族人群IL-1RA基因多态性及其与宫颈癌的相关性研究

目的 研究位于白细胞介素1受体拮抗剂基因（interleukin-1 receptor antagonist, IL-1RA）第二个内含子中可变串连重复序列（variable number of tandem repeats, VNTR）多态性在中国3个汉族人群中的分布情况，并探讨其与宫颈癌的发生关系。方法 采用PCR方法分别对3个汉族人群206例个体以及42例宫颈癌患者和45例对照进行多态性检测，扩增产物进行2％的琼脂糖电泳。结果 三个汉族群体的基因型以A1/A1和A1/A2最为常见。等位基因以A1频率最高，A2次之，群体间的差异是不显著的（P＞0.05）。与美、英高加索人群相比，A1 的频率明显偏高，A2明显偏低，而与非洲黑人相近。在宫颈癌患者和正常对照人群中，该多态位点的等位基因和基因型频率均无统计学意义（P＞0.05）。结论 IL-1RA第二个内含子中 VNTR多态性在不同种族间的分布存在着明显的差异，但与中国东北地区宫颈癌的发生可能无直接相关性。

Interleukin- 1 Receptor Antagonist (IL-1RA) Gene Polymorphism in Chinese Han Population and Association Study with Cervical Cancer

Objective To investigate the distribution of polymorphisms of the variable number of tandem repeats (VNTR) at intron 2 of interleukin-1 receptor antagonist (IL-1RA) gene in Chinese three Han populations and relationship with pathogenesis of cervical cancer. Methods The specific fragments were amplified by polymerase chain reaction (PCR) and were detected by running the amplicons on 2% agarose gel for 206 healthy subjects from Xinjiang, Fujian, Sichuan province and 42 patients with cervical cancer and 45 normal controls. Results A_1/A_1 and A_1/A_2 were the common genotypes in Chinese three Han populations. A_1 was the most frequent one and A_2 the second, there was no difference among Chinese three Han populations (P>0.05). Compared with American and England Caucasians, the frequency of A_1 in Chinese three Han populations was higher, while A_2 lower, which was similar with Black South African. No difference was observed between the cervical cancer groups and the controls with respect to both the allele and genotype frequency of the IL-1RA gene polymorphisms. Conclusion IL-1RA intron 2 VNTR gene polymorphism were different in different ethnic populations, and might not be associated with cervical cancer in Chinese Northeast district.