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Gwangju, South Korea

Li L.,Korea University | Yun J.-H.,Korea University | Ryoo J.E.,Hankuk Academy of Foreign Studies | Lee K.-J.,CHA Medical University | And 2 more authors.
European Journal of Obstetrics Gynecology and Reproductive Biology | Year: 2015

Abstract Objective A sterol regulatory element-binding protein (SREBF-1) transcription factor is a major regulator of lipid metabolism, carbohydrate, and plays a key role in energy homeostasis. The 54(G/C) polymorphism of SREBF-1 gene was reported that it is related with metabolic diseases including obesity, type 2 diabetes, and dyslipidemia. Among these, polycystic ovary syndrome (PCOS) is known as a common metabolic-endocrine disorder of women in reproductive ages. Study design Here, we performed a comparative study of 54(G/C) polymorphism of SREBF-1 gene with PCOS. The 54(G/C) polymorphism of SREBF-1 gene was analyzed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) of total 286 PCOS patients and 149 matched controls of healthy women. Statistical analysis was performed using HapAnalyzer. A p-value under 0.05 was considered statistically significant. Results There was a strong association between the 54(G/C) polymorphism of SREBF-1 gene and PCOS (OR: 0.65, 95% CI: 0.46-0.90, p: 0.0129). The genotype and allelic frequencies were in Hardy-Weinberg equilibrium (HWE). Conclusion This is the first study on the genetic variation of SREBF-1 gene and PCOS. We concluded that 54(G/C) polymorphism of SREBF-1 gene is associated with PCOS. Therefore, our results suggest that SREBF-1 gene may play a role in genetic predisposition to PCOS, which is helpful in understanding the etiology of PCOS. © 2015 Elsevier Ireland Ltd. All rights reserved. Source

Li L.,Korea University | Ryoo J.E.,Hankuk Academy of Foreign Studies | Lee K.-J.,CHA Medical University | Choi B.-C.,CL Womens Hospital | Baek K.-H.,Korea University
PLoS ONE | Year: 2015

Monocyte chemoattractant protein-1 (MCP-1) is a pivotal chemokine in the inflammatory response, which plays an important role in recruiting monocytes to sites of injury and infection. However, the exact mechanism of Mcp-1 associated with PCOS risk was unknown. In this study, we explored whether the Mcp-1 -2518G>A polymorphism increases the risk of PCOS. We performed a comparative study of -2518G>A polymorphism of the Mcp-1 gene with PCOS. In addition, luciferase reporter assay was performed to evaluate the Mcp-1 transcriptional activity. A strong association was observed between the -2518G>A polymorphism of Mcp-1 gene and PCOS (p-value = 0.016, odd ratio (OR) = 0.693). A p-value under 0.05 is considered statistically significant. The genotype and allelic frequencies were assumed to be in Hardy-Weinberg equilibrium (HWE). The luciferase assays in 2 cell lines showed that the Mcp-1 -2518G>A substitution can increase the expression of Mcp-1. MCP-1 levels in serum for PCOS group were significantly higher than those in serum for controls (p-value = 0.02). Furthermore, the patients carrying a genotype A/A had significantly increased levels of MCP-1 in serum compared with levels of the MCP-1 of the patients with genotypes G/G and G/A (p-value = 0.031). This is the first study on the genetic variation of the Mcp-1 gene and PCOS. This finding suggests that the Mcp-1 -2518G>A polymorphism is associated with PCOS risk by affecting transcriptional activity, leading to an increased expression level of Mcp-1. © 2015 Li et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Source

Li L.,Dong - A University | Lee K.-J.,CHA Medical University | Choi B.-C.,CL Womens Hospital | Baek K.-H.,Dong - A University
Gene | Year: 2013

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. © 2013 Elsevier B.V. Source

Kim J.-H.,CHA Medical University | Li L.,CHA Medical University | Yun J.I.-H.,CHA Medical University | Choi B.-C.,CL Womens Hospital | Baek K.-H.,CHA Medical University
Molecular Medicine Reports | Year: 2011

Polycystic ovary syndrome (PCOS) is a disorder characterized by hyperandrogenism, chronic oligoanovulation and insulin resistance. A number of women with PCOS are obese and exhibit abnormal phenotypes, including high levels of androgens, an irregular menstrual cycle and increased hair growth. Studies on obese PCOS patients have proven the crucial role that obesity plays in insulin resistance and hyperinsulinemia. The uncoupling protein (UCP) gene is one of the genes known to have a strong association with obesity and insulin resistance. Thus, we analyzed the association between the -866G/A polymorphism in the promoter of UCP2 and PCOS. Genotyping was performed by polymerase chain reaction along with restriction fragment length polymorphism analysis, followed by an analysis of the genotype of the UCP2 polymorphism in PCOS and control subjects using HapAnalyzer. The study included samples from 277 PCOS patients and 152 healthy controls. P<0.05 was considered to be statistically significant. In conclusion, no association was found between the -866G/A single nucleotide polymorphism and PCOS (P=0.7168, OR=1.07, 95% CI). The present study showed that -866G/A, a UCP2 gene polymorphism, is not associated with the pathogenesis of PCOS. Source

Kim Y.-S.,Dong - A University | Gu B.-H.,Dong - A University | Choi B.-C.,Chosun University | Kim M.-S.,Dong - A University | And 5 more authors.
International Journal of Molecular Medicine | Year: 2013

Polycystic ovary syndrome (PCOS) is a common endocrine-metabolic disorder, affecting 6-10% of women of reproductive age. The etiology remains poorly understood. To investigate the differentially expressed proteins from PCOS patients versus healthy women, the protein expression in follicular fluid was analyzed using two-dimensional elec-trophoresis (2-DE). Since follicular fluid contains a number of secretory proteins required for oocyte fertilization and follicle maturation, it is possible that follicular fluid can be used as a provisional source for identifying pivotal proteins associated with PCOS. In this study, six overexpressed proteins [kininogen 1, cytokeratin 9, antithrombin, fibrinogen γ-chain, apolipoprotein A-IV (apoA-IV) precursor and α-1-B-glycoprotein (A1BG)] in follicular fluids from PCOS patients were identified with matrix-assisted laser desorption/ioniza-tion-time-of-flight mass spectrometry (MALDI-TOF-MS) and nano LC-MS/MS. Western blot analysis confirmed that the protein expression levels of apoA-IV precursor and A1BG were increased in follicular fluid from PCOS patients compared with those from normal controls. The analysis of protein expression for other proteins revealed individual variation. These results facilitate the understanding of the molecular mechanisms of PCOS and provide candidate biomarkers for the development of diagnostic and therapeutic tools. Source

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