CYP19基因多态性与子宫内膜异位症相关性的研究

目的 探讨CYP19基因多态性与中国河北省汉族育龄妇女Ⅲ、Ⅳ期子宫内膜异位症发病风险的关系.方法 采用聚合酶链反应限制性片段长度多态性方法检测102例Ⅲ、Ⅳ期子宫内膜异位症患者(病例组)与100例无子宫内膜异位症病史患者(对照组)CYP19基因115T/C、240A/G、1 531 C/T位点多态性.结果 CYP19基因115T/C的3种基因型TT、TC、CC在病例组的分布为91.18%、8.82%、0,在对照组为88.00%、11.00%、1.00%.T、C等位基因在病例组和对照组中的分布为95.59%、4.41%和93.50%、6.50%.两组比较差异无统计学意义(P＞0.05).CYP19基因240A/G的3种基因型AA、AG、GG在病例组中的分布为27.45%、49.02%、23.53%,在对照组为45.00%、41.00%、14.00%.A、G等位基因在病例组和对照组中的分布为51.96%、48.04%和65.50%、34.50%.两组比较差异有统计学意义(P＜0.05).CYP19基因1531 C/T的3种基因型CC、CT、TT在病例组中的分布为41.18%、47.06%、11.76%,在对照组分别为38.00%、42.00%、20.00%,两组间差异无统计学意义(P＞0.05).C、T等位基因在病例组和对照组中的分布为64.71%、35.29%和59.00%、41.00%.两组比较差异无统计学意义.结论 CYP19基因240GG基因型可能是Ⅲ、Ⅳ期子宫内膜异位症发生的危险因素.

Association of the CYP19 gene polymorphism with genetic susceptibility to endometriosis

Objective To investigate whether thc 115T/C, 240A/G and 1531C/T polymorphisms of CYP19 gene are associated with the risk of moderate/severe endometriosis. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to identify the CYP19 gene polymorphism in Chinese patients with endometriosis of Ⅲ-Ⅳ stage (n= 102) and individuals without endometriosis (n= 100). Results Thc frequencies of CYP19 gene 115T/C, TT,TC and CC were 0. 9118,0. 0882 and 0 in the endometriosis group, and 0. 8800, 0. 1100 and 0. 0100 in the control group,respectively. The frequencies of 115T and C alleles in both groups were 0. 9559 and 0. 0441, and 0. 9350and 0. 0650, respectively (P＞0.05). The frequencies of CYP19 gene 240AA, AG and GG were 0. 2745,0. 4902 and 0. 2353 in the endometriosis group, and 0. 4500, 0. 4100 and 0. 1400 in the control group,respectively. The frequencies of 240A and G alleles in both groups were 0. 5196 and 0. 4804, and 0. 6550 and 0. 3450, respectively (P＜0.05). The frequencies of CYP19 gene 153 1C/T, CC,CT and TT were 0.4118,0. 4706 and 0. 1176 in the endometriosis group, and 0. 3800, 0. 4200 and 0. 200 in the control group,respectively. The frequencies of 1531C and T alleles in both groups were 0. 6471 and 0. 3529, and 0. 5900 and 0. 4100, respectively (P＞0.05). Conclusion CYP19 gene 240G/G polymorphism may contribute to the susceptibility of stages Ⅲ and Ⅳ endometriosis but there was no association between CYP19 gene 115T/C and 1531C/T polymorphisms and stage Ⅲ and Ⅳ endometriosis.