title: Single nucleotide polymorphisms in the TGF-β1 gene are associated with polycystic ovary syndrome susceptibility and characteristics: a study in Korean women.
abstract: OBJECTIVE
  Although many hypotheses regarding the pathogenesis of polycystic ovary syndrome (PCOS) have been generated, genetic studies have not identified specific genes that play a role in PCOS etiopathogenesis. This study aimed to investigate the relationship between TGF-β1 gene polymorphism and PCOS in Koreans.
  
  
  METHODS
  A total of 51 Korean women with PCOS and 69 healthy women were enrolled. We analyzed 4 single nucleotide polymorphisms (SNPs) of the TGF-β1 gene (rs11466313, rs1800469, rs2317130, and rs4803457). We also analyzed laboratory measurements, such as free testosterone, glucose, and cholesterol.
  
  
  RESULTS
  The frequencies of rs1800469T allele negativity, rs4803457T allele negativity, the rs1800469CC genotype, and the rs4803457CC genotype showed positive associations with PCOS (P = 0.003, P = 0.027, P = 0.009, and P=0.031, respectively), whereas the haplotypes rs1800469C-rs4803457T and rs1800469T-rs4803457T showed negative associations with PCOS. A strong protective effect of the "rs1800469CT-rs4803457TT" combination (OR = 0.09) and a strong risk effect of "rs1800469CC-rs4803457CC" (OR = 6.23) for PCOS were observed. The rs1800469C/T and rs2317130C/T SNPs exhibited associations with several laboratory measurements with various levels of significance.
  
  
  CONCLUSIONS
  The results demonstrated an association of TGF-β1 gene polymorphisms with the development and/or characteristics of PCOS in the Korean population.
authors: Department of Laboratory Medicine, Seoul National University Boramae Medical Center, Seoul, Republic of Korea.|Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
authors: Eun Youn
authors: EY
authors: Roh
authors: Department of Laboratory Medicine, Seoul National University Boramae Medical Center, Seoul, Republic of Korea.|Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
authors: Jong Hyun
authors: JH
authors: Yoon
authors: Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
authors: Eun Young
authors: EY
authors: Song
authors: Department of Obstetrics and Gynecology, Seoul National University Healthcare System Gangnam Center, Seoul, Republic of Korea.
authors: Jin Ju
authors: JJ
authors: Kim
authors: Departments of Obstetrics and Gynecology, Seoul National University Boramae Medical Center, Seoul, Republic of Korea.
authors: Kyu Ri
authors: KR
authors: Hwang
authors: Department of Laboratory Medicine, Seoul National University Boramae Medical Center, Seoul, Republic of Korea.|Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
authors: Soo Hyun
authors: SH
authors: Seo
authors: Department of Laboratory Medicine, Seoul National University Boramae Medical Center, Seoul, Republic of Korea. jeannie@snu.ac.kr.|Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea. jeannie@snu.ac.kr.
authors: Sue
authors: S
authors: Shin
mesh_terms: D000328:Adult; D000483:Alleles; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: D053773:Transforming Growth Factor beta1
keywords: Korean; Polycystic ovary syndrome; TGF-β1 gene polymorphism; Testosterone