Results
| PMID | 25935136 |
| Gene Name | LHCGR |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | LH (Trp8Arg/Ile15Thr), LH receptor (insLQ), and FSH receptor (Asn680Ser) |
| Population size | 132 |
| Population details | 132 (67 with endometriosis and infertility, 65 healthy fertile patients (control group)) |
| Sex | Female |
| Infertility type | Female infertility |
| Associated genes | LH, LHR, FSHR |
| Other associated phenotypes |
Endometriosis, Female infertility |
|
J Assist Reprod Genet. 2015 Jun;32(6):991-7. doi: 10.1007/s10815-015-0477-3. Epub Schmitz, Carla Regina| Souza, Carlos Augusto Bastos de| Genro, Vanessa Krebs| Matte, Ursula| Conto, Emily de| Cunha-Filho, Joao 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, crschmitz@gmail.com. PURPOSE: To verify if polymorphisms of LH (Trp8Arg/Ile15Thr), LH receptor (insLQ), and FSH receptor (Asn680Ser) are associated with endometriosis and infertility. METHODS: 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. RESULTS: 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. CONCLUSION: 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. Mesh Terms: Adult| Case-Control Studies| Endometriosis/complications/*genetics| Female| Humans| Infertility, Female/complications/*genetics| Luteinizing Hormone/chemistry/*genetics| Multivariate Analysis| *Polymorphism, Genetic| Prospective Studies| Recepto |
|