CYP1B1基因RS1800440A/G与RS1056836 C/G联合基因型多态性与子宫内膜异位症易感性的相关性  

Relationship Between Endometriosis and Combined Polymorphisms of CYP1B1 RS1800440 A/G and CYP1B1 RS1056836 C/G

作　　者：王玉凤 毛婷[2] WANG Yu-feng;MAO Ting(Department of Gynecology and Obstetrics,Guang Zhou Red Cross Hospital,Guangzhou 510220,China;Department of Gynecology,Guangdong Province Maternal and Child Health Hospital,Guangzhou 511400,China)

机构地区：[1]广州市红十字会医院妇科,广东广州510220 [2]广东省妇幼保健院妇科,广东广州511440

出　　处：《吉林医学》2023年第8期2092-2095,共4页Jilin Medical Journal

基　　金：广州市医药卫生科技项目[项目编号:20131A011044]。

摘　　要：目的:探讨中国南方汉族妇女CYP1B1基因rs1800440及rs1056836多态性协同作用与子宫内膜异位症发病的相关性。方法:收集经手术证实的432例子宫内膜异位症患者和499名对照人群外周血,采用高分辨率熔解曲线技术检测CYP1B1基因rs1800440及rs1056836多态性。结果:由于两组中CYP1B1基因rs1800440及rs1056836位点同时分型成功的例数分别为431例、499例,测得内异症组CYP1B1基因rs1800440及rs1056836联合基因型分布频率为AACC 79.35%、AACG 18.79%、AAGG 0.70%、AGCC 1.16%、AGCG 0%、AGGG 0%、GGCC 0%、GGCG 0%、GGGG 0%;对照组中联合基因型分布分别为AACC 77.15%、AACG 20.64%、AAGG 1.40%、AGCC 0.40%、AGCG 0.40%、AGGG 0%、GGCC 0%、GGCG 0%、GGGG 0%;两组患者联合基因型分布比较,差异无统计学意义(F=4.596,P=0.312)。携带AGCC型基因者内异症发病风险最高[OR值:2.814,95%CI为(0.543~14.600)],AGCG型内异症的发病风险也略有增加[OR值:1.888,95%CI为(1.763~2.022)]。CYP1B1基因rs1800440为野生AA型时,随着rs1056836含等位基因“G”比例升高,内异症的发病风险逐渐降低。而CYP1B1基因rs1056836为野生CC型时,随着rs1800440位点含“G”比例升高,内异症的发病风险逐渐增加。结论:中国南方汉族妇女外周血CYP1B1基因rs1800440多态性无GG型存在。rs1800440、rs1056836联合基因型分布中,AACC型最多,但联合基因的多态性的分布与子宫内膜异位症的发病无明显关联。CYP1B1基因rs1800440中的等位基因G可增加内异症的风险,而rs1056836中的等位基因G对内异症的易感性有保护作用。Objective To investigate the association between endometriosis and combined polymorphisms of CYP1B1rs1800440 and CYP1B1 rs1056836in southern Han Chinese women.Method The peripheral blood was collected from 432 patients with endometriosis and 499 controls,and the polymorphisms of CYP1B1 rs1800440 and CYP1B1 rs1056836 were genotyped by Fluorescence Quantitative PCR-based High-Resolution Melting curve technique(HRM).Results 431 cases were genotyped inthe endometriosis group,and 499 cases were genotyped successfully in the control.The frequency of combined polymorphisms of CYP1B1 rs1800440 and CYP1B1 rs1056836 was measured to be AACC(79.35%)、AACG(18.79%)、AAGG(0.70%)、AGCC(1.16%)、AGCG(0%)、AGGG(0%)、GGCC(0%)、GGCG(0%)、GGGG(0%)in the case;And the frequency of combined polymorphisms in the control group was AACC(77.15%)、AACG(20.64%)、AAGG(1.40%)、AGCC(0.40%)、AGCG(0.40%)、AGGG(0%)、GGCC(0%)、GGCG(0%)、GGGG(0%),respectively.There was no significant difference between the two groups(F=4.596,P=0.312).Individuals carrying the AGCC genotype gene have the highest risk of developing endometriosis[OR=2.814,95%CI:(0.543~14.600)],the risk of developing AGCG type endometriosis also slightly increased[OR=1.888,95%CI(1.763-2.022)],and when CYP1B1 rs1800440 locus was homozygous AA type,the polymorphism of CYP1B1 rs1056836 contains"G"ratio,which was negatively correlated with the risk of endometriosis.While CYP1B1 rs1056836 locus was homozygous CC type,the polymorphism of CYP1B1 rs1800440 contains"G"ratio,which was positively correlated with the risk of endometriosis.Conclusion There is no GG genotype in the rs1800440 polymorphism of the CYP1B1 gene in the peripheral blood of Han women in southern China.In the distribution of rs1800440 and rs1056836 combined genotypes,AACC genotype was the most,but the distribution of the polymorphism of the combined gene was not significantly associated with the incidence of Endometriosis.The allele G in the CYP1B1 gene rs1800440 can increase the risk of endometriosis,while the a

关 键 词：子宫内膜异位症 芳香化酶P450 CYP1B1基因 单核苷酸多态性 

分 类 号：R711.71[医药卫生—妇产科学]