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Porto Alegre, Brazil

Genro V.K.,Federal University of Rio Grande do Sul | Matte U.,Terapia Genica Research Unit | De Conto E.,Federal University of Rio Grande do Sul | Fanchin R.,University Paris - Sud | Fanchin R.,French Institute of Health and Medical Research
Journal of Assisted Reproduction and Genetics | Year: 2012

Purpose To verify whether carriers of common singlenucleotide polymorphisms (SNPs) of the FSH receptor (FSHR) show reduced responsiveness of antral follicles to FSH administration as assessed by the FORT. Methods We performed a prospective study in a university hospital. Study population consisted of 124 Caucasian IVFET candidates. FSHR 307Ala and 680Ser variants were analyzed in haplotypes and as separated genes. Serum FSH, estradiol (E2), and anti-Müllerian hormone (AMH) were measured on cycle-day 3. Antral follicle (3-8 mm) count (AFC) and preovulatory follicle (16-22 mm) count (PFC) were performed, respectively, at the achievement of pituitary suppression (before FSH administration) and on the day of hCG administration. Antral follicle responsiveness to FSH administration assessed by the FORT (PFCx100/AFC). Results Data concerning baseline and IVF-ET parameters were similar between SNPs carriers and controls. Moreover, FORT was similar for different haplotypes Thr307-Asn680 (45.9%) and Ala307-Ser680 (39.4%) and 307Thr/Ala-Ala/ Ala (41.1%; 5.0-91.6%) versus 307Thr/Thr (44.4%; 17.3-83.3%) and in 680Asn/Ser-Ser/Ser (40.0%; 5.0-91.6%) versus 680Asn/Asn (42.2%; 8.3-90.0%) carriers. Conclusions Antral follicle responsiveness to FSH, as far as measured by the FORT, is not influenced by the presence of SNPs of FSHR 307Ala and 680Ser. © 2012 Springer Science+Business Media, LLC. Source


Bilibio J.P.,Federal University of Rio Grande do Sul | Matte U.,Terapia Genica Research Unit | De Conto E.,Federal University of Rio Grande do Sul | Genro V.K.,Federal University of Rio Grande do Sul | And 2 more authors.
Fertility and Sterility | Year: 2013

Objective: To compare the prevalence of dopamine receptor D2 polymorphisms in patients with peritoneal endometriosis and in healthy control subjects. Design: Case-control study. Setting: University hospital. Patient(s): One hundred seven women aged ≥18 years who were enrolled when seeking care for infertility caused by peritoneal endometriosis or for tubal ligation. Intervention(s): We performed DNA extraction of peripheral blood, followed by polymerase chain reaction to confirm single-strand polymorphisms and to sequence two polymorphisms. Main Outcome Measure(s): We sequenced two polymorphisms in exon 7 of the dopamine receptor D2 (DRD2) gene. Polymorphism 1 occurs in nucleotide 3420 (cytosine to thymine, 313 histidine), and polymorphism 2 occurs in nucleotide 3438 (cytosine to thymine, 319 proline). Result(s): The frequency of the DRD2 polymorphism 2 was increased in subjects with peritoneal moderate/severe endometriosis. Analysis of the DRD2 genotypes demonstrates an odds ratio of 2.98 (95% confidence interval 1.47-6.04) for polymorphism 2 in peritoneal moderate/severe endometriosis. Conclusion(s): Our results revealed that an excess of DRD2 polymorphism 2 was found in exon 7 in women with peritoneal moderate/severe endometriosis. The presence of polymorphism 2 could cause a defect in a post-receptor signaling mechanism, resulting in a mild increase in serum prolactin levels. Thus, the potential angiogenic role of prolactin may play a role in the implantation of ectopic endometriosis tissue. Source


Schmitz C.R.,Federal University of Rio Grande do Sul | de Souza C.A.B.,Federal University of Rio Grande do Sul | Genro V.K.,Federal University of Rio Grande do Sul | Matte U.,Terapia Genica Research Unit | And 3 more authors.
Journal of Assisted Reproduction and Genetics | Year: 2015

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. Sixtyseven 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. © Springer Science+Business Media New York 2015 Source


Rodini G.P.,Federal University of Rio Grande do Sul | Rodini G.P.,Grande Rio University | Genro V.K.,Federal University of Rio Grande do Sul | Genro V.K.,Grande Rio University | And 9 more authors.
Journal of Assisted Reproduction and Genetics | Year: 2011

Purpose: We conducted a cross-sectional study to evaluate the linkage of FSHR T307A and N680S in a group of fertile women. Methods: Peripheral blood was obtained from 51 fertile women. DNA extraction and isolation were performed. For the detection of the T307A polymorphism a set of primers (5- TCTGAGCTTCATCCAATTTGCA-3-and 5-GGGAAAGAGGGCA GCTGCAA-3) was used and then the product was further amplified by a second PCR-RFLP using another set of primers (5-CAAATCTATTTTAAGGCAAGAAGTTGATTATATGCCTCAG-3-and 5-GTAGATTCCAATGCAGA GATCA-3). For the N680S polymorphism the primers (5-TTTGTGGTCATCTGTGGCTGC-3- and 5-CAAAGGCAAGGACTGAATT ATC ATT-3-) were used. Statistical analysis for the association between the polymorphisms was performed by the Spearman test. Results: We calculated the association between the homozygosis at codon 307 and at codon 680 both for T/T-S/S and A/A-N/N. A significant association between the genotypic results at codon 680 with those at codon 307 was found (r∈=∈0.6363, P∈=∈0.001). However, a complete linkage between these two polymorphisms was rejected as there were 12 patients with discordant results from the expected A-N/T-S at codons 307 and 680, respectively. Conclusion: The current data demonstrated an association but failed to demonstrate a complete linkage between these two polymorphisms. © 2010 Springer Science+Business Media, LLC. Source

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