Objetive: Several biomarkers of ovarian reserve have been proposed as possible predictors of the response to controlled ovarian stimulation (COS). We aimed to evaluate age, FSH, AMH, antral follicle count (AFC), and ovarian response prediction index (ORPI), as potential predictors of response to COS. Methods: Cross-sectional study enrolling of 188 infertile women who underwent the first cycle of IVF/ICSI. AFC was evaluated; serum FSH and AMH levels were measured by ELISA. ORPI was calculated as AMH x AFC/patient´s age. Results: As expected, hypo-responder group had less retrieved oocytes, MII, and embryos compared to the good responders. The hyper-response patients were younger, with lower FSH, increased AMH, AFC, and ORPI values. Regarding the assessment of the predictive capacity of ovarian reserve tests, none of them individually or combined showed a good predictive capacity for hypo-response. With respect to the hyper-responder group, individually AMH was the best predictor, while in the multivariable model, ORPI demonstrated the best predictive capacity. Furthermore, patients with serum AMH < 2.09 ng/mL (p25) had fewer AFC than patients with higher AMH values. Conclusions: Our findings suggest that none of the ovarian reserve tests showed a good predictive capacity for hypo-response, while the ORPI was the strongest predictor of hyper-response in normovulatory infertile women.

Important candidate genes involved in the ovarian response to exogenous FSH are the estrogen receptor genes (ESRs), since the effects of estrogens on follicle growth, maturation and oocyte release. It is known that some markers of ovarian stimulation can help to personalize the treatment, adjusting the dose of exogenous rFSH, thus preventing excessive wear of the patient. Inspired on this information we aimed to analyze four different polymorphisms in the estrogen receptor genes ESR1: rs2234693/T-397C (PvuII) and rs9340799/A-351G (Xbal) and ESR2: rs4986938/G1082A (RsaI) and rs1256049/A + 1730G (AluI), and their association with assisted reproduction outcomes in Brazilian women that underwent in vitro fertilization (IVF). A cross-sectional study was performed involving 136 infertile women less than 39 years of age with normal ovarian reserve. Patients were divided according to the same COH protocol for statistical analysis. The Taqman assay was used for PvuII and XbaI of ESR1, and RsaI and AluI of ESR2 genotyping. Serum estradiol and FSH were measured by Elisa assay. The PvuII (ESR1) TT and RsaI (ESR2) GG genotypes were associated with a longer induction period and higher doses of medication (p < 0.03). The XbaI (ESR1) AA genotype was associated with better COH results, including a larger number of follicles, mature oocytes, embryos, and good quality embryos (p < 0.05). The AluI GG genotype showed an association with the Ovarian Hyperstimulation Syndrome (OHSS) (p = 0.03). According to the haplotype analysis of ER1 (PvuII/XbaI), we demonstrated that the CA combination increases by 0.68 the number of good quality embryos while the TG decreases it by 0.71 (p = 0.04). ER polymorphisms have an association with the assisted reproduction outcomes in Brazilian women.

Background/Aims: It is known that some markers of ovarian stimulation can help to personalize the treatment, adjusting the dose of exogenous rFSH, thus preventing excessive wear of the patient. We aimed to evaluate Ala307Thr and Asn680Ser genotypes of the FSHR gene in infertile women and correlate the findings with the results of ovarian response and assisted reproduction outcomes. Methods: Cross-sectional study covering 149 infertile women submitted to assisted reproduction treatment. Genotyping of FSHR variants were performed using TaqMan methodology by real time PCR. FSH and estradiol were measured by ELFA. The data was analyzed statistically. Results: The frequencies of the FSHR Ala307Thr and Asn680Ser genotypes considering the ovarian hyper stimulation response also did not differ statistically. Considering assisted reproduction outcomes, we observed that the polymorphism Ala307Thr have a statistical difference for the number of MII oocytes and embryos (p=0,051 and p=0.037, respectively), which the genotype Ala/Ala showed more embryos. The polymorphisms did not determine the FSH and estradiol serum levels and the ovarian response in the assisted reproduction treatment. Conclusions: The polymorphisms Ala307Thr and Asn680Ser did not determine the FSH and estradiol serum levels and the ovarian response in the assisted reproduction treatment. However, we observed that the Ala307Thr may influence the number of embryos produced.

Intervertebral disc degeneration (DD) is an important cause of low back pain and its precise aetiology is not fully understood, being attributed to cumulative environmental, biomechanical and genetic effects. The vitamin D plays a key role in regulation of calcium homeostasis and bone mineralization, exerting its biological activities by binding to a high-affinity receptor (VDR). Polymorphisms in VDR gene were previously associated with DD process, however with conflicting results. Here, we aimed to investigate the influence of lifestyle characteristics and VDR TaqI, BsmI, ApaI and FokI polymorphisms as risk factors for DD process. Retrospective case–control study involving 231 participants: 119 with confirmed DD and 112 healthy controls. Genotyping of VDR polymorphisms was performed by PCR–RFLP and real-time PCR using TaqMan methodology. All patients answered a questionnaire regarding lifestyle characteristics, such as educational level, pain localization, smoking habits, engagement of physical activity, postural and load weight at work and familial history of disc degeneration. The variables were compared between groups and adjusted by age and gender. The case group was composed by 52% female and 48% male and the mean age was 40.0 years old, while in the control group 79% was female and 21% male and the mean age was 32.0 years old. Although gender distribution and mean age were different between groups, in the control group all participants were less than 45 years old and there was a prevalence of women in both groups. The factors that could be possibly associated to DD in the Brazilian population studied included smoking habits (26% in cases and 9% in controls, p = 0.003), lack of engagement in physical activity (observed in 77% of cases and 62% of controls, p = 0.018), and loading weight during work routine (58% in cases and 24% in controls, p ≤ 0.001). However, after adjusting by age and gender, only smoking habits remained associated to disc degeneration (p = 0.027). Considering the educational level, 35.2% of cases and 15.6% of controls had only the Elementary School, and 5.5% of DD group and 28.6% of control group had completed College (p = 0.025). In addition, educational level was directly associated to load weight at work (p = 0.012). Regarding VDR polymorphisms, no significant difference in genotype and allele frequencies between groups was observed. The haplotype analysis revealed that the combined wild-type alleles of TaqI, ApaI and FokI polymorphisms—TGT—was observed in a higher frequency in control group (p = 0.039). The findings suggested that smoking habits was a risk factor for disc degeneration in the population studied. Single analysis revealed no significant effects of VDR polymorphisms in disc degeneration process, while the combination of wild-type alleles of TaqI, ApaI and FokI polymorphisms, TGT haplotype, decreased the risk of the disease.