Schmitz Carla Regina, Souza Carlos Augusto Bastos de, Genro Vanessa Krebs, Matte Ursula, Conto Emily de, Cunha-Filho João Sabino
Postgraduate Program in Medical Clinics of the Universidade Federal do Rio Grande do Sul, Ramiro Barcelos St, 2350, Porto Alegre, RS, 90035-903, Brazil,
J Assist Reprod Genet. 2015 Jun;32(6):991-7. doi: 10.1007/s10815-015-0477-3. Epub 2015 May 3.
To verify if polymorphisms of LH (Trp8Arg/Ile15Thr), LH receptor (insLQ), and FSH receptor (Asn680Ser) are associated with endometriosis and infertility.
This is a prospective case-control study. Sixty-seven patients with endometriosis and infertility (study group) and 65 healthy fertile patients (control group) were enrolled in the study between July 2010 and July 2013. All patients had their endometriosis diagnosis made or excluded by laparoscopic surgery; study group was submitted to the surgery for infertility investigation and control group for tubal ligation. Day-3 serum hormones were collected from all patients. Analysis of nucleotide mutations for LH polymorphisms (Trp8Arg and Ile15Thr), LHR polymorphism (insLQ), and FSHR polymorphism (Asn680Ser) were performed by PCR.
Day-3 FSH, estradiol and LH serum levels were not different between the groups, while CA-125 was higher in patients with endometriosis and infertility. All polymorphisms studied were in Hardy-Weinberg equilibrium. The prevalence of insLQ was significantly higher in patients with endometriosis and infertility (P = 0.005). Allele occurrence in control group was 0.10 versus 0.25 in infertile endometriosis group (P = 0.001). There was no difference regarding Trp8Arg/Ile15Thr (P > 0.05) and Asn680Ser (P > 0.05) prevalence between groups.
This is the first time that prevalence of insLQ was shown to be higher in patients with endometriosis and infertility than in healthy fertile patients. There was no difference in LH and FSHR polymorphisms' prevalence between groups.
验证促黄体生成素（LH）（色氨酸8精氨酸/异亮氨酸15苏氨酸）、LH受体（insLQ）及促卵泡激素受体（Asn680Ser）的多态性是否与子宫内膜异位症及不孕症相关。
这是一项前瞻性病例对照研究。2010年7月至2013年7月期间，67例子宫内膜异位症合并不孕症患者（研究组）及65例健康可育患者（对照组）纳入本研究。所有患者均经腹腔镜手术确诊或排除子宫内膜异位症；研究组患者因不孕症接受手术，对照组患者接受输卵管结扎术。收集所有患者月经周期第3天的血清激素。采用聚合酶链反应（PCR）对LH多态性（色氨酸8精氨酸和异亮氨酸15苏氨酸）、LHR多态性（insLQ）及FSHR多态性（Asn680Ser）进行核苷酸突变分析。
两组患者月经周期第3天的促卵泡激素（FSH）、雌二醇及LH血清水平无差异，而子宫内膜异位症合并不孕症患者的CA-125水平较高。所有研究的多态性均处于哈迪-温伯格平衡。insLQ在子宫内膜异位症合并不孕症患者中的患病率显著更高（P = 0.005）。对照组等位基因出现频率为0.10，而子宫内膜异位症不孕症组为0.25（P = 0.001）。两组间色氨酸8精氨酸/异亮氨酸15苏氨酸（P > 0.05）及Asn680Ser（P > 0.05）的患病率无差异。
这是首次表明insLQ在子宫内膜异位症合并不孕症患者中的患病率高于健康可育患者。两组间LH及FSHR多态性的患病率无差异。
