CYP19A1基因RS700518 A/G和RS10046 C/T基因多态性与子宫内膜异位症易感性的关系

Association between the gene polymorphism of CYP19A1 gene RS700518 A/G and RS10046 C/T and the susceptibility to endometriosis

目的探讨CYP19A1基因RS700518 A/G和RS10046 C/T基因多态性与中国南方汉族女性子宫内膜异位症易感性的关系。方法选取2018年1月至2019年1月广州市红十字会医院收治的432例经病理证实为子宫内膜异位症患者作为试验组,选取同期本院收治的499例非子宫内膜异位症患者作为对照组。采用基于实时荧光定量聚合酶链反应(qRT-PCR)的高通量高分辨率熔解曲线(HRM)分析CYP19A1基因RS700518 A/G和RS10046 C/T的多态性,比较两组多态性基因型和等位基因型频率分布,分析CYP19A1基因RS700518 A/G联合RS10046 C/T基因多态性与子宫内膜异位症的关系。结果试验组和对照组CYP19A1基因RS700518 A/G和RS10046 C/T同时分型成功分别为432例和496例。两组CYP19A1基因RS700518 A/G位点AG、AA、GG、A、G基因型频率比较,差异无统计学意义(P>0.05)。两组CYP19A1基因RS10046 C/T位点TC、TT、CC、T、C基因型频率比较,差异无统计学意义(P>0.05)。AATT基因型是子宫内膜异位症发病概率最高的联合基因型,GGTT是最低的联合基因型,两组均未发现GGCC型。CYP19A1基因RS700518 A/G或RS10046 C/T多态性与子宫内膜异位症的发生无显著相关性(P>0.05)。结论CYP19A1基因RS700518 AA联合RS10046 TT时子宫内膜异位症发病概率最高,当CYP19A1基因RS10046位点为纯合TT时,子宫内膜异位症发生风险随RS700518位点含有A比例增加而升高,而CYP19A1基因RS700518 A/G和RS10046 C/T联合基因型GGCC在中国南方汉族女性中非常罕见。

Objective To investigate the association between the gene polymorphism of CYP19A1 gene RS700518 A/G and RS10046 C/T and the susceptibility to endometriosis in Han women from southern China.Methods A total of 432 patients with pathologically confirmed endometriosis admitted to Guangzhou Red Cross Hospital from January 2018 to January 2019 were regarded as the research group,and 499 patients without endometriosis admitted at the same hospital during the same period were regarded as the control group.The polymorphism of CYP19A1 gene RS700518 A/G and RS10046 C/T was genotyped by high-resolution melting curve(HRM)based on real-time fluorescent quantitative polymerase chain reaction(qRT-PCR).The frequency distribution of the polymorphism genotypes and alleles types between the two groups was compared,and the relationship between the gene polymorphism of CYP19A1 gene RS700518 A/G combined with RS10046 C/T and endometriosis was analyzed.Results 432 cases in the endometriosis group,and 496 cases in the control were successfully genotyped with CYP19A1 gene RS700518 A/G and RS10046 C/T at the same time.There was no significant difference in comparing the frequency of AG,AA,GG,A and G genotypes at the RS700518 A/G locus of CYP19A1 gene between the two groups(P>0.05).There was no significant difference in comparing the frequency of TC,TT,CC,T and C genotypes at the RS10046 C/T loci of CYP19A1 gene between the two groups(P>0.05).The AATT genotype was the joint genotype with the highest incidence of endometriosis,and the GGTT genotype was the lowest.The GGCC genotype was not found in either group.There is no significant correlation between CYP19A1 gene RS700518 A/G or RS10046 C/T polymorphism and the occurrence of endometriosis(P>0.05).Conclusions The incidence of endometriosis was the highest when CYP19A1 gene RS700518 AA was combined with RS10046 TT.When the RS10046 locus of CYP19A1 gene was homozygous TT,the incidence of endometriosis increased as the proportion of A in the RS700518 locus elevated.The CYP19A1 gene RS700518A/G and RS10046C/T joint genotype GGCC was very rare among Han women from southern China.