Polymorphisms and haplotypes of the TGF-β1 gene are associated with risk of polycystic ovary syndrome in Chinese Han women

Abstract Objectives 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. Study design 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. Conclusion 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.