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Objective: To investigate single nucleotide polymorphisms (SNPs) in vascular endothelial growth factor (VEGF) gene that have significant associations with the pathogenesis of polycystic ovary syndrome (PCOS) in a Korean population. Design: Case-control study. Setting: University-based hospital. Patient(s): One hundred thirty-four patients with PCOS and 100 healthy women as controls. Intervention(s): None. Main Outcome Measure(s): Frequencies of genotypes for SNPs in VEGF gene, which were specifically expressed in a Korean population. Result(s): After genotypic analysis, we found that among 10 SNPs, one novel SNP at site +9812 and one known SNP at site +13553 have P values lower than .05 (+9812: odds ratio [95% confidence interval] 0.61 [0.39–0.95]; +13553: odds ratio [95% confidence interval] 0.59 [0.37–0.93]) and one haplotype (ht4) also has a P value in the significant range (odds ratio [95% confidence interval] 0.34 [0.16–0.74]). Conclusion(s): We concluded that one novel SNP at +9812 site, one known SNP at +13553 site, and one selected haplotype in the VEGF gene have a high possibility of significant associations with the pathogenesis of PCOS in a Korean population. [Copyright &y& Elsevier]

Objective: To investigate several single nucleotide polymorphisms (SNPs) in the insulin receptor (INSR) gene that have significant associations with pathogenesis of polycystic ovary syndrome (PCOS) in a Korean population.Design: Case-control study.Setting: University-based hospital.Patient(s): 134 patients with PCOS and 100 healthy women as controls.Intervention(s): All exons of INSR in DNA samples from 100 healthy women and 134 women with PCOS were sequenced and compared.Main Outcome Measure(s): Frequencies of genotypes for several SNPs in INSR gene that were found as specifically expressed SNPs in a Korean population.Result(s): Among nine SNPs analyzed in a large population, the genotypic frequencies of eight SNPs were similar, and they had no statistically significant association with PCOS. However, the frequency of a minor allele for one novel SNP, +176477 C>T, was higher in the control group than the patient group.Conclusion(s): Among the analyzed SNPs, +176477 C>T, a novel SNP in the INSR gene, was associated with the pathogenesis of PCOS in a Korean population. [ABSTRACT FROM AUTHOR]

Objective: To assess the association between the single nucleotide polymorphism of the insulin receptor (INSR) gene and polycystic ovary syndrome (PCOS) in a Korean population. Design: Case-control study. Setting: University-based hospital. Patient(s): One hundred seventy-four patients with PCOS and 93 healthy women as controls. Main Outcome Measure(s): Frequency of three genotypes for single nucleotide polymorphism found in exon 17 of INSR gene. Result(s): The high frequency of the T allele was shown both in patient and control groups. The frequency of C allele, which known as a normal allele, was slightly higher in the patient group than in the control group. Conclusion(s): The C/T polymorphism in exon 17 of the INSR gene is not associated with susceptibility of PCOS in a Korean population. [Copyright &y& Elsevier]

Objective: To quantify mitochondrial DNA using real-time PCR in women with premature ovarian failure (POF) and a control group. Design: Prospective study. Setting: Genome Research Center for Reproductive Medicine and Infertility, Korea Ministry of Health & Welfare. Patient(s): Thrity patients with POF and 30 control individuals. Intervention(s): The mitochondrial DNA content was quantified using real-time PCR. The effectiveness of the assay was determined by relative quantification using the comparative threshold cycle (CT) method. Main Outcome Measure(s): Relative quantification of mitochondrial DNA content. Result(s): The mitochondrial DNA content was significantly lower in the POF group than in the control group (0.58 ± 0.38 vs. 1.15 ± 0.67; P<.01). In both groups, there was a significant positive correlation between the mitochondrial DNA/28S rRNA ratio and mitochondrial DNA CT (control group: r = 0.774; P<.001; POF group: r = 0.556; P=.001) and a significant negative correlation between the mitochondrial DNA/28S rRNA ratio and 28S rRNA CT (control group: r = −0.677; P<.001; POF group: r = −0.627; P=.001). Conclusion(s): This study has established the clinical feasibility of quantifying amounts of mitochondrial DNA, relative to an internal standard, using real-time PCR. Further studies are warranted to elucidate the roles of apoptosis and mitochondrial function in the pathogenesis of POF. [Copyright &y& Elsevier]

Interferon-γ secretion from peripheral blood mononuclear cells (PBMCs) of women with unexplained recurrent spontaneous abortions was increased by trophoblast stimulation. Apoptosis was significantly increased in trophoblast cells cultured with the supernatant of PBMCs from women with evidence of TH1 immunity to trophoblast stimulation. [Copyright &y& Elsevier]