Polycystic ovary syndrome (PCOS) is a common female endocrine disorder that has a detriment impact on female health. Herein, the study used a case-control analysis to sought to explore the association of rs13405728, rs12478601, and rs2479106 single nucleotide polymorphisms (SNPs) with in vitro fertilization and embryo transfer (IVF-ET) efficacy in treating PCOS. A total of 163 PCOS patients (52 cycles) were selected as the PCOS group and 171 patients with tubal factor infertility without PCOS (68 cycles) were selected as the control group. Polymerase chain reaction was used to amplify genome DNA and direct sequencing to detect SNPs. The LHCGR rs13405728, THADA rs12478601, and DENND1A rs2479106 genotypes were subsequently tested. Logistic regression analysis was conducted to analyze the risk factors influencing the occurrence of PCOS as well as those influencing the efficacy of IVF-ET. rs13405728, rs12478601, and family history of DM were influencing factors for the occurrence of PCOS. The rate of abortion and number of oocytes retrieved of patients with the THADA rs12478601 CC genotype increased but the rate of clinical gestation decreased. Patients with AG + GG genotype of the DENND1A rs2479106 had increased number of oocytes retrieved, rate of abortion and incidence of gestational DM. rs13405728, rs12478601, serum E value as well as fertility rate were influencing factors for efficacy of IVF-ET. It was suggested that the TT genotype of LHCGR rs13405728, CC genotype of THADA rs12478601 and AG + GG genotype of DENND1A rs2479106 had poor outcomes of IVF-ET in treating PCOS.

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http://dx.doi.org/10.1002/kjm2.12008DOI Listing

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Polycystic ovary syndrome (PCOS) is a common female endocrine disorder that has a detriment impact on female health. Herein, the study used a case-control analysis to sought to explore the association of rs13405728, rs12478601, and rs2479106 single nucleotide polymorphisms (SNPs) with in vitro fertilization and embryo transfer (IVF-ET) efficacy in treating PCOS. A total of 163 PCOS patients (52 cycles) were selected as the PCOS group and 171 patients with tubal factor infertility without PCOS (68 cycles) were selected as the control group.

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Polycystic ovary syndrome susceptibility single nucleotide polymorphisms in women with a single PCOS clinical feature.

Hum Reprod

March 2015

Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jingliu Road 157, Jinan 250001, China The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan 250001 China National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan 250001 China Reproductive Medical Hospital Affiliated to Shandong University, Jinan 250001, China Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai 200000, China

Study Question: What is the direct genetic contribution of the polycystic ovary syndrome (PCOS) susceptibility single nucleotide polymorphisms (SNPs), identified by previous genome-wide association studies (GWAS) to the definitive clinical features of the syndrome?

Summary Answer: Each single PCOS clinical feature had a specific genetic association, and rs4385527 in the chromosome 9 open reading frame 3 (C9orf3) conferred a particular risk to the three defined PCOS clinical features in this study, which suggested its fundamental role in the etiology of PCOS.

What Is Known Already: PCOS is a heterogeneous disorder characterized by anovulation (OA), hyperandrogenism (HA) and polycystic ovary morphology (PCOM). Two previous GWAS in China have identified 15 independent susceptibility SNPs related to PCOS (PCOS-SNPs).

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Objective: To investigate the relationship between polycystic ovary syndrome (PCOS) susceptibility single nucleotide polymorphisms (SNP) and metabolic phenotypes in glucose and lipid metabolism and explore the pathophysiological mechanism of the susceptibility genes.

Methods: Three of PCOS susceptibility locus 2p16.3 (rs13405728 of LHCGR gene), 2p21 (rs13429458, rs12478601 of THADA gene) and 9q33.

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Study Question: Are there any correlations between the phenotypes of polycystic ovary syndrome (PCOS) and the genotypes of the PCOS susceptibility single nucleotide polymorphisms (SNPs) in THADA, DENND1A and LHCGR?

Summary Answer: The PCOS susceptibility genes, THADA and DENND1A, carry risk alleles that are associated with endocrine and metabolic disturbances in patients with PCOS.

What Is Known Already: PCOS is a heterogeneous endocrinopathy characterized by oligo-anovulation, hyperandrogenism and polycystic ovaries. In a previous genome-wide association study, the SNP variants rs13429458, rs12478601, rs2479106, rs10818854 and rs13405728 in the THADA, DENND1A and LHCGR genes were identified as being independently associated with PCOS.

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Context: A genome-wide association study has identified three loci (five independent signals) that confer risk for polycystic ovary syndrome (PCOS) in Han Chinese women. Replication is necessary to determine whether the same variants confer risk for PCOS in women of European ancestry.

Objective: The objective of the study was to test whether these PCOS risk variants in Han Chinese women confer risk for PCOS in women of European ancestry.

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