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Polycystic ovary syndrome (PCOS) is a common disorder in women of reproductive ages. But its etiology is not fully understood yet. Variability in the number of tandem repeats of the insulin gene ( INS- VNTR) is known to associate with PCOS, and it is associated with an increased risk of diabetes mellitus and other cardiovascular diseases. The aim of our study was to analyze an association between the INS-VNTR polymorphism and PCOS in a Korean population. The −23/Hph I polymorphism was used as a surrogate marker for INS-VNTR polymorphism and a total of 218 PCOS patient and 141 control DNAs were analyzed by restriction fragment length polymorphism method. Statistical analysis of genotyping results were performed using HapAnalyzer. χ2 test and logistic regression were used to analyze the association between two groups. A p value <0.05 was considered statistically significant. The frequencies of A/A and A/T genotypes indicated a similar change between PCOS patients and controls. In conclusion, there was no association between PCOS and INS-VNTR polymorphism ( p = 0.0544, odds ratio = 1.69). Our present data demonstrate that INS- VNTR polymorphism is not related with PCOS in Korean women. Thus, it is suggested that INS- VNTR polymorphism is not a key factor in the etiology and the pathogenesis of PCOS in a Korean population. [ABSTRACT FROM AUTHOR]

Abstract: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders, which is involved in the multi-system disease, and its etiology is still not clearly understood. It is currently considered that not only the genetic factors but also the environment factors play a crucial role in the pathogenesis of PCOS. Obesity plays an important role through the insulin, leptin and endocannabinoid system in the pathological process of PCOS, leading to more severe clinical manifestations. The aim of our present study is to investigate whether there is association between single nucleotide polymorphisms (SNPs) of Gln223Arg and Pro1019Pro in the leptin receptor gene (LEPR) and PCOS in a Korean population. Interestingly, a significant association was found between the Pro1019Pro in LEPR gene and PCOS, and a highly significant association was found between the Gln223Arg in LEPR gene and PCOS (P =0.033, OR=1.523, 95% confidence interval and P <0.0001, OR=0.446, 95% confidence interval). Moreover, genotype combination and haplotype analyses indicate that Gln223Arg and Pro1019Pro polymorphisms of LEPR are significantly associated with the risk of PCOS. [Copyright &y& Elsevier]

Abstract: Objective: The aim of the present study was to investigate whether there is an association between the C677T polymorphism in MTHFR and PCOS in a Korean population. Study design: The prevalence of MTHFR gene was compared between women with PCOS (n =227) and normal patients (n =115) using restriction fragment length polymorphism (RFLP) analysis. The HapAnalyzer was used to analyze the genotype of MTHFR polymorphism in PCOS and control subjects. We considered a p-value less than 0.05 as statistically significant. Results: The frequency of C/C, C/T, and T/T genotype showed similar proportion between PCOS and control subjects. In addition, the frequencies of co-dominant (p-value=0.8334, odds ratio (OR)=1.04), dominant (p-value=0.8749, OR=0.96) and recessive alleles (p-value=0.5574, OR=1.22) did not show any association between PCOS and control subjects. Conclusion: Our data demonstrate that the C677T polymorphism of MTHFR gene is not associated with PCOS in a Korean population, suggesting that the C677T polymorphism in MTHFR may have different influences in various ethnic groups and diseases. [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]

Polycystic ovary syndrome (PCOS) is an endocrine disorder and the criteria are specified by hyperandrogenism, oligomenorrhea or amenorrhea and polycystic ovary morphology. Follicle stimulating hormone (FSH) has effects on oogenesis and follicle development. Several polymorphisms of FSH receptor (FSHR) are related to primary amenorrhea, hypoplastic ovary, and high serum levels of FSH. Thus, an increase in FSH level leads to follicle maturation and proliferation of granulosa cells. The aim of this study was to determine whether Ser680Asn and Ala307Thr polymorphisms of FSHR were associated with the clinical features of PCOS in a Korean population. PCOS patients (n=235) and control subjects (n=128) in the reproductive age were recruited from the Fertility Center of CHA General Hospital in Seoul, Korea. For Ser680Asn and Ala307Thr polymorphisms in FSHR, frequency of respective genotypes was measured and statistical analysis was performed. Haplotype analysis between Ser680Asn and Ala307Thr was also performed. We found that the Ser680Asn of FSHR is associated with PCOS (p=0.0195, OR=1.66). However, in case of Ala307Thr, the variant is negligible and is not associated with PCOS (p=0.6963, OR=1.08). In haplotype analysis, Ser680Asn and Ala307Thr polymorphisms are not related with PCOS. Consequently, the Ser680Asn polymorphism of FSHR might significantly affect PCOS patients, separately from the Ala307Thr polymorphism.

Polycystic ovary syndrome (PCOS) is a common endocrine disorder that affects 4-12% of women of reproductive age, and is specified when two of the three following criteria are present: hyperandrogenism, oligomenorrhoea and polycystic ovary morphology by ultrasonography. PCOS is characterized by infertility, obesity and hyperinsulinaemia. However, the aetiology of PCOS has not yet been fully identified due to complex metabolic mechanisms. Many researchers have demonstrated that polymorphisms of putative genes related to symptoms are associated with PCOS. In the reproductive system, energy metabolism and hormonal regulation are important to differentiate granulosa cells in the ovary. Peroxisome proliferator-activated receptor gamma (PPAR-gamma) is a transcription factor, and is known to be associated with insulin sensitivity. Furthermore, it is highly expressed in granulosa cells. It was recently reported that various polymorphisms of PPAR-gamma are associated with PCOS in different ethnic backgrounds. This study has shown that both Pro12Ala and His447His polymorphisms of PPAR-gamma are associated with PCOS in a Korean population.

Women with polycystic ovary syndrome (PCOS) are characterized by excess androgen secretion and anovulatory infertility as a cause of follicular maturation arrest, and they are also associated with insulin resistance and obesity. Recently, it was suggested that one of the etiologies for PCOS is an abnormality of steroid hormones, and excessive secretion of androgen. The endoplasmic reticular cytochrome P450, 17alpha-hydroxylase (CYP17A), plays a key role in the mechanism of steroid hormones such as adrenal and gonadal steroid biosynthesis. Therefore, we studied the association between single nucleotide polymorphisms (SNPs) of the A1 allelic variant of the CYP17 gene and PCOS in a Korean population. The study recruited 134 Korean women with PCOS and 100 healthy women as controls. Using the HapAnalyzer, the genotype of the CYP17A1 polymorphism in PCOS and control patients were analyzed. We considered a p-value lower than 0.05 to be statistically significant. After genotypic analysis, we found seven SNPs of the CYP17A1 gene in a large population of subjects. The frequency of seven SNPs had no significant association with PCOS. However, one haplotype (ht3) had a p-value of p=0.001, suggesting that it may be associated with the pathogenesis of PCOS in a Korean population.

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.