title: 54G/C polymorphism of SREBF-1 gene is associated with polycystic ovary syndrome.
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.
  
  
  METHODS
  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).
  
  
  CONCLUSIONS
  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.
authors: Department of Biomedical Science, CHA University, Bundang CHA Hospital, Seongnam 463-840, Gyeonggi-Do, Republic of Korea.
authors: Lan
authors: L
authors: Li
authors: Department of Biomedical Science, CHA University, Bundang CHA Hospital, Seongnam 463-840, Gyeonggi-Do, Republic of Korea.
authors: Ji-Hyun
authors: JH
authors: Yun
authors: Hankuk Academy of Foreign Studies, Yongin 449-854, Gyeonggi-Do, Republic of Korea.
authors: Ji Eun
authors: JE
authors: Ryoo
authors: Department of Gynecology and Obstetrics, CHA University, CHA General Hospital, Seoul 135-081, Republic of Korea.
authors: Kyung-Ju
authors: KJ
authors: Lee
authors: Department of Obstetrics and Gynecology, CL Women's Hospital, Gwangju 502-800, Republic of Korea.
authors: Bum-Chae
authors: BC
authors: Choi
authors: Department of Biomedical Science, CHA University, Bundang CHA Hospital, Seongnam 463-840, Gyeonggi-Do, Republic of Korea. Electronic address: baek@cha.ac.kr.
authors: Kwang-Hyun
authors: KH
authors: Baek
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D051780:Sterol Regulatory Element Binding Protein 1 / Q000235:genetics*
chemical_list: C497387:SREBF1 protein, human; D051780:Sterol Regulatory Element Binding Protein 1
keywords: Obesity; Polycystic ovary syndrome; SREBF-1; Single nucleotide polymorphism; Sterol regulatory element binding protein