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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 association between RANTES gene -403G / A single nucleotide polymorphism and genetic susceptibility to endometriosis (endometriosis). Methods Polymerase chain reaction (PCR) technique and gene sequencing technique were used to detect RANTES gene -403 locus in 66 patients with endometriosis and 84 patients with non-endometriosis in control group Genotype and allele frequency distribution. Results (1) The frequencies of GG, GA and AA genotypes in RANTES-403 loci were 39.39%, 48.49%, 12.12% and 61.91%, 35.71% and 2.38% in control group and endometriosis group respectively. The difference between the two groups was statistically significant (P <0.05). The risk of endometriosis in AA genotype individuals was 8.000 times higher than that of GG genotypes (P = 0.006, OR = 8.000, 95% CI = 1.584-40.401 ). (2) The frequency of G / A allele of RANTES-403 locus in endometriosis group was 63.64% and 36.36%, respectively, 79.76% and 20.24% in control group, respectively Statistical significance (P <0.05), carrying the A allele increased the relative risk of endometriosis (P = 0.002 OR = 2.252 95% CI = 1.343 ~ 3.777). Conclusion The -403G / A single nucleotide polymorphism of RANTES gene is associated with the genetic susceptibility to endometriosis in Chinese Han population of Guangdong Province. Individuals carrying A allele may significantly increase the risk of endometriosis, and AA genotype may be associated with Is its susceptible genotype.