| Part 1 Systematic Evaluation of Genetic Variants for Polycystic Ovary Syndrome in a Chinese PopulationObjectives To present a more informative profile of the previous reported variants and to replicate association with all the genetic variants identified in the two Chinese GWAS, we performed a systematic study in an independent Chinese cohort study.Methods We analyzed all the 17 single nucleotide polymorphisms (SNPs) mapping to the 11 GWAS loci in an independent sample set of 800 Chinese subjects with PCOS and 1110 healthy controls systematically. SHEsis software and SPSS 13.0 softwares were employed for statistical analysis, P<0.05 was considered statistically significant. Bonferroni analysis was performed to correct the P value.Results Variants of rs3802457 in C9orf3 locus (P= 5.99×10-4) and rs13405728 in LHCGR locus (P= 3.73×10-4) were significantly associated with PCOS after the strict Bonferroni correction in our data set. The further haplotype analysis indicated that in the block of C9orf3 gene (rs4385527 and rs3802457), GA haplotype played a protective role in PCOS (8.7 vs 5.0, P= 9.85×10-6, OR= 0.548,95%CI= 0.418-0.717), while GG haplotype was found suffering from an extraordinarily increased risk of PCOS (73.6% vs79.2%, P= 3.41×10-5, OR= 1.394,95%CI= 1.191-1.632). Moreover, the directions of effects for all SNPs were consistent with previous GWAS reports (P= 1.53x10-5). Polygenic score analysis demonstrated that these 17 SNPs have a significant capacity on predicting case-control status in our samples (P= 7.17×10-9), meanwhile all these gathered 17 SNPs explained about 2.40% of variance.Conclusion Our findings supported that C9orf3 and LHCGR loci variants were vital susceptibility of PCOS.Clinical Study on the Treatment for Infertile Patients with Polycystic Ovary Syndrome in IVF-ETObjective:The study aimed to compare the pregnancy outcome and pregnancy complications between the cycle of fresh IVF-ET and frozen-thawed embryo transfer in infertile patients with polycystic ovary syndrome (PCOS) by randomized controlled studies (RCT). Retrospective analysis was taken to compare the medication process and pregnancy outcome for PCOS patients stimulated by antagonist protocol and long protocol during the same period.Materials and Methods:120 cases of PCOS patients, who were confirmed as PCOS according to Chinese PCOS diagnostic criteria,41 cases were excluded by exclusion criteria, and the remaining 79 cases were randomly divided into two groups:group A(fresh ET cycle) and group B(frozen-thawed ET cycle). According to the uniform requirements for starting dose, Gn was administered, and GnRH-ant was added in necessity. The oocyte retrieval, IVF or ICSI were performed by the routine protocol and the embryos were cultured to the third day for fresh embryo transfer or embryo cryopreservation respectively. The following IVF outcome such as biochemical pregnancy rate, clinical pregnancy rate, abortion rate, multiple pregnancy rate, and live birth rate were analyzed on the basis of regular follow-up. At the same time,71 cases of PCOS patients treated with long protocol in IVF/ICSI were selected for the same period. The Gn days, Gn dose, oocyte number, and the available embryo number were compared between the two groups with different stimulation protocols.Results:After completely randomized group of patients in accordance with the adoption standards, there were 40 patients entering group A, among them,2 patients1 transfer were cancelled because there were no usable embryo; 6 patients’transfer were cancelled because of the high risk of OHSS; the rest 32 patients received the fresh embryo transfer strictly under the requirements of randomized group. There are 39 patients entering in group B, among them,1 patient deviated from the plan after randomized grouping because she demanded for fresh embryo transfer, the follow-up outcome was ectopic pregnancy; 1 patient didn’t receive embryo transfer because of personal reason. The biochemical pregnancy rate, clinical pregnancy rate, multiple pregnancy rate, abortion rate and live birth rate of both groups were recorded as follows: 65.63%/64.86%,50%/59.46%,31.25%/54.55%,47.62%/16.67%,34.38%/54.05%. In addition to 1 patient deviating from the plan with ectopic pregnancy, no other ectopic pregnancy or birth defect occurred in this study. The analysis showed that there were no significantly differences on biochemical pregnancy rate between two groups; while the clinical pregnancy rate, multiple pregnancy rate and live birth rate of group B were higher than those of group A, but had no statistically significance, maybe because of the smaller sample; the abortion rate of group A was obviously higher than that of group B, the difference had statistically significance. At the meantime, we retrospectively analyzed and compared the Gn dose (2032.54±725.66/1551.74±673.32), number of retrieved oocytes (17.00±8.77/14.48±7.29), number of available transfer embryos (7.22±3.42/7.48±4.05), incidence rate of OHSS (16.9%/7.59%) and other indexes between long GnRH agonist protocol group and antagonist protocol group and the biochemical pregnancy rate (58.33%/65.63%), clinical pregnancy rate (45.83%/50%) and early pregnancy abortion rate (12.5%/23.81%) of fresh embryo transfer cycles. It turned out that the total amount of Gn used and the number of Gn days of long GnRH agonist protocol group were obviously higher than those of antagonist group and the difference had statistically significance. There were no obvious difference in other items.Conclusions High quality RCT research is one of the most scientific research methods to evaluate the effect of clinical intervention, which can provide the most accurate basis for clinical work. Antagonist stimulation protocol may be a better choice for PCOS patients, and frozen-thawed embryo transfer can improve the clinical pregnancy rate. |
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