The promoter -1031(T/C) polymorphism in <it>tumor necrosis factor-alpha </it>associated with polycystic ovary syndrome

• Main Authors: Shin Joong-Sik (Author), Lee Kyung-Ju (Author), Choi Jin-Woo (Author), Yun Ji-Hyun (Author), Baek Kwang-Hyun (Author)
• Format: Book
• Published: BMC, 2011-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.1186/1477-7827-9-131; 1477-7827
• Keywords: Polycystic ovary syndrome; TNF-alpha; tumor necrosis factor; PCR-RFLP; Gynecology and obstetrics; RG1-991; Reproduction; QH471-489
• Source: Reproductive Biology and Endocrinology, Vol 9, Iss 1, p 131 (2011)

<p>Abstract</p> <p>Background</p> <p>A <it>tumor necrosis factor-alpha </it>is a multifunctional pro-inflammation cytokine, which has been considered as one of pathogenic factors for various diseases. The promoter -1031(T/C) polymorphism in the <it>tumor necrosis factor-alpha </it>gene was reported that it plays a part in reproduction-related diseases. Among these, polycystic ovary syndrome (PCOS) is known to be a common gynecological disease of women in reproductive age women. Here, we performed a comparative study of -1031(T/C) polymorphism of <it>TNF-alpha </it>gene with PCOS in a Korean population.</p> <p>Methods</p> <p>The -1031(T/C) polymorphism of <it>TNF-alpha </it>gene was analyzed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) in a total of 217 PCOS patients and 144 matched female controls of healthy women. And statistical analysis was performed using HapAnalyzer. <it>X</it>²test and logistic regression were utilized analyze the association between two groups. A <it>p</it>-value under 0.05 was considered statistically significant.</p> <p>Results</p> <p>The genotype and allelic frequencies were in Hardy-Weinberg equilibrium (HWE). There was strong association between the -1031(T/C) polymorphism in the promoter region of <it>TNF-alpha </it>gene and PCOS (<it>p</it>-value = 0.0003, odd ratio (OR) = 2.53). In addition, the frequency of C allele was significantly higher in PCOS patients compared with controls. Sequence analyses also showed the -1031(T/C) polymorphism of <it>TNF-alpha </it>gene.</p> <p>Conclusion</p> <p>This is the first study on the -1031(T/C) polymorphism of <it>TNF-alpha </it>gene in PCOS. We concluded that the -1031(T/C) polymorphism of <it>TNF-alpha </it>gene is associated with PCOS in a Korean population. Therefore, it is possible that it may be considered as a clinical biomarker to diagnose for PCOS, and is helpful in understanding the etiology for the pathogenesis of PCOS.</p>