title: Polymorphisms and haplotypes of the TGF-β1 gene are associated with risk of polycystic ovary syndrome in Chinese Han women.
abstract: OBJECTIVE
  Transforming growth factor-beta 1 (TGF-β1) is one of the multifunctional cytokine families. It takes part in a series of physiological and pathological processes in the human body, including wound healing, tissue fibrosis and embryonic development. Recent studies have shown that TGF-β1 participates in the development of polycystic ovary syndrome (PCOS). This study was therefore designed to investigate the association of TGF-β1 polymorphism with the risk of PCOS.
  
  
  METHODS
  We enrolled 328 PCOS patients and 358 healthy individuals in this study. Five single nucleotide polymorphisms (SNPs) - rs4803457C/T, rs11466313 deletion/AGG, rs2217130C/T, rs1800469C/T and rs1800470C/T - were detected using Snapshot technology. Linkage disequilibrium and haplotype analysis was conducted among the five SNPs. The relationship between genotypes and haplotypes and the risk of PCOS was also explored.
  
  
  RESULTS
  The TT/CT/CC genotype frequencies of rs4803457 in the PCOS group and the control group were 0.2805/0.4878/0.2317 and 0.3659/0.4749/0.1592 respectively. The C/T allele frequencies in the PCOS group and control group were 0.3813/0.6187 and 0.3966/0.6034 respectively. There were significant differences in genotype distribution frequencies and allele frequencies between these two groups (P=0.018). Logistic regression analysis showed that CC genotype had higher risk of PCOS than the no CC genotype in rs4803457 loci (OR=1.75, 95%CI=1.11-2.75). Haplotype analysis further showed that the haplotypes "T-del-C-C-C", "C-del-C-C-C" and "C-del-C-T-C" were associated with the highest risk of PCOS. However, for rs11466313 deletion/AGG, rs2217130C/T, rs1800469C/T and rs1800470C/T, no significant association with PCOS risk was observed.
  
  
  CONCLUSIONS
  The TGF-β1 gene rs4803457C/T polymorphism is associated with susceptibility to PCOS, and is the key contributor for the development of PCOS in Chinese Han women. The haplotypes T-del-C-C-C, C-del-C-C-C and C-del-C-T-C are also risk factors for PCOS susceptibility among Chinese Han women.
authors.affiliation: Department of Immunology, Medical College of University of South China, Hengyang 421001, PR China; Department of Reproductive Medicine Centre, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, PR China; Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou 510150, PR China.
authors.forename: Jie
authors.initials: J
authors.lastname: Yang
authors.affiliation: Department of Reproductive Medicine Centre, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, PR China.
authors.forename: Ting
authors.initials: T
authors.lastname: Zhong
authors.affiliation: Department of Reproductive Medicine Centre, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, PR China; Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou 510150, PR China.
authors.forename: Guohong
authors.initials: G
authors.lastname: Xiao
authors.affiliation: Department of Reproductive Medicine Centre, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, PR China; Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou 510150, PR China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Immunology, Medical College of University of South China, Hengyang 421001, PR China; Department of Reproductive Medicine Centre, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, PR China.
authors.forename: Jianqiao
authors.initials: J
authors.lastname: Liu
authors.affiliation: Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou 510150, PR China.
authors.forename: Chenglai
authors.initials: C
authors.lastname: Xia
authors.affiliation: Department of Reproductive Medicine Centre, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, PR China; Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou 510150, PR China.
authors.forename: Hongzi
authors.initials: H
authors.lastname: Du
authors.affiliation: Department of Reproductive Medicine Centre, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, PR China; Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou 510150, PR China.
authors.forename: Xiangjin
authors.initials: X
authors.lastname: Kang
authors.affiliation: Department of Reproductive Medicine Centre, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, PR China.
authors.forename: Yuyi
authors.initials: Y
authors.lastname: Lin
authors.affiliation: Department of Reproductive Medicine Centre, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, PR China.
authors.forename: Ronghua
authors.initials: R
authors.lastname: Guan
authors.affiliation: Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou 510150, PR China.
authors.forename: Pengke
authors.initials: P
authors.lastname: Yan
authors.affiliation: Department of Immunology, Medical College of University of South China, Hengyang 421001, PR China. Electronic address: jhxiao223@163.com.
authors.forename: Jianhua
authors.initials: J
authors.lastname: Xiao
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: D053773:Transforming Growth Factor beta1
keywords: Gene polymorphism; Haplotype; Polycystic ovary syndrome (PCOS); Transforming growth factor-beta 1 (TGF-β1)