RANTES基因-403G/A单核苷酸多态性与子宫内膜异位症遗传易感性研究

Study on the association between RANTES gene-403G/A single nucleotide polymorphism(SNP) and the susceptibility to endometriosis(EMs)

目的探讨RANTES基因-403G/A单核苷酸多态性与子宫内膜异位症(内异症)遗传易感性的相关性。方法应用聚合酶链反应分析技术(PCR技术)及基因测序技术检测广东籍汉族内异症患者66例(内异症组)及非内异症患者84例(对照组)RANTES基因-403位点的基因型及等位基因型频率分布。结果 (1)RANTES-403位点GG、GA、AA三种基因型在内异症组和对照组中的分布频率分别为39.39%,48.49%,12.12%和61.91%,35.71%,2.38%;两组间比较差异具有统计学意义(P<0.05),携带AA基因型的个体患内异症的风险是GG基因型的8.000倍(P=0.006,OR=8.000,95%CI=1.584～40.401)。(2)RANTES-403位点G/A等位基因型在内异症组中的分布频率分别为63.64%,36.36%;在对照组中分别为79.76%,20.24%,两组间比较差异有统计学意义(P<0.05),携带A等位基因型使发生内异位症的相对危险度提高,(P=0.002 OR=2.252 95%CI=1.343～3.777)。结论 RANTES基因-403G/A单核苷酸多态性与中国广东籍汉族人群内异症的遗传易感性相关,携带A等位基因型的个体可明显增加内异症发病风险,AA基因型可能是其易感基因型。

Objective：To investigate the possible association between single nucleotide polymorphism of regulated on activation,normal T cell expressed and secreted（RANTES）gene-403G/A and the susceptibility to endometriosis.Methods：By polymerase chain reaction and gene sequencing technology,single nucleotide polymorphisms of RANTES gene-403（G/A） in 66 endometriosis patient and 84 controls in Han people of Guangdong province were measured,the allele frequencies and the genotype frequencies were analyzed.Results：（1） The genotype frequency in EMs patients and controls of RANTES-403GG,RANTES-403GA,RANTES-403AA were 39.39%,48.49%,12.12% and 61.91%,35.71%,2.38% respectively.There was a significant difference in the frequency of genotype between the two groups（P0.05）.The risk of suffering from endometriosis in person carrying AA genotype was higher than that in person carrying GG genotype by 8.000 times（P=0.006,OR = 8.000,95%CI=1.584~40.401）.（2） The alleles frequency in EMs patients and controls of RANTES-403G,RANTES-403A were 63.64%,36.36% and 79.76%,20.24% respectively.There was a significant difference in the frequency of alleles between the two group（P0.05）.Compared with allele G,the relative risk of suffering from endometriosis caused by allele A was increased（P=0.002,OR=2.252,95%CI=1.343~3.777）.Conclusions：These results suggested that RANTES-403G/A single nucleotide polymorphism was associated with endometriosis in Han People of Guangdong Province.Allele A in RANTES gene-403 site could significantly increase relative risk of suffering from endometriosis in Guangdong women.RANTES-403AA genotype might be one of genetic susceptible factors of suffering from endometriosis in Guangdong women.