Analysis of FOXP3 polymorphisms in infertile women with and without endometriosis
Analysis of FOXP3 polymorphisms in infertile women with and without endometriosis
复制标题
DOI：
10.1016/j.fertnstert.2011.03.033
复制
发表时间：
2011-06-01
影响因子：
6.7
通讯作者：
Bianco, Bianca
中科院分区：
文献类型：
--
作者：
Andre, Gustavo M.;Barbosa, Caio P.;Bianco, Bianca
目的：评价FOXP 3多态性（rs3761549，rs3761548，rs 2232368，rs 2232366，和rs 2280883）在一组不孕妇女中的应用。设计：病例对照研究。设置：Faculdade de Medicina do ABC的人类生殖门诊。患者：研究组为177例子宫内膜异位症不孕妇女，71例特发性不孕妇女，171例生育妇女作为对照。干预：采用TaqMan聚合酶链反应（PCR）鉴定FOXP 3多态性。结果：单标记分析显示FOXP 3 rs3761549与子宫内膜异位症显著相关。在无子宫内膜异位症的不育组中，单标记分析显示，rs 2280883和rs 2232368 FOXP 3多态性存在统计学差异。rs3761548和rs 2232366与原发性不孕组和糖尿病相关不孕组均无相关性。5个FOXP 3多态性的单倍型分析确定了与子宫内膜异位症相关的单倍型CTTGA和与特发性不孕症相关的单倍型ACTAG。这些发现需要在其他人群中复制，但表明FOXP 3多态性可能与巴西妇女特发性不孕症（rs 2280883和rs 2232368）和子宫内膜异位症（rs3761549）的风险相关。（Fertil Steril（R）2011;95：2223-7.（C）2011年由美国生殖医学协会。
Objective: To evaluate FOXP3 polymorphisms (rs3761549, rs3761548, rs2232368, rs2232366, and rs2280883) in a group of infertile women with and without endometriosis and controls.Design: Case control study.Setting: Human Reproduction Outpatient Clinic of Faculdade de Medicina do ABC.Patient(s): The study groups were 177 infertile women with endometriosis, 71 women with idiopathic infertility, and 171 fertile women as controls.Intervention(s): The FOXP3 polymorphisms were identified by TaqMan polymerase chain reaction (PCR). The results were analyzed statistically.Main Outcome Measure(s): Genotype distribution, allele frequency, and haplotype analysis of the FOXP3 polymorphisms.Result(s): : Single-marker analysis revealed that FOXP3 rs3761549 was significantly associated with endometriosis. In the infertile group without endometriosis, single-marker analysis revealed statistical difference for rs2280883 and rs2232368 FOXP3 polymorphisms. No associations were found with rs3761548 and rs2232366 either for endometriosis-related infertility group or idiopathic infertility group. Haplotype analysis of five FOXP3 polymorphisms identified a haplotype CTTGA associated with endometriosis and ACTAG associated with idiopathic infertility.Conclusion(s): : This is the first study to report an association between FOXP3 polymorphisms and endometriosis and/or infertility. These findings require replication in other populations but suggest that the FOXP3 polymorphisms can be associated with risk of idiopathic infertility (rs2280883 and rs2232368) and endometriosis (rs3761549) in Brazilian women. (Fertil Steril (R) 2011;95:2223-7. (C)2011 by American Society for Reproductive Medicine.)