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

Yun JH, Choi JW, Lee KJ, Shin JS, Baek KH - Reprod. Biol. Endocrinol. (2011)

Bottom Line: A p-value under 0.05 was considered statistically significant.Sequence analyses also showed the -1031(T/C) polymorphism of TNF-alpha gene.We concluded that the -1031(T/C) polymorphism of TNF-alpha gene is associated with PCOS in a Korean population.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Biomedical Science, CHA University, Bundang CHA General Hospital, Gyeonggi-Do, Republic of Korea.

ABSTRACT

Background: A tumor necrosis factor-alpha 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 tumor necrosis factor-alpha 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 TNF-alpha gene with PCOS in a Korean population.

Methods: The -1031(T/C) polymorphism of TNF-alpha 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. X2 test and logistic regression were utilized analyze the association between two groups. A p-value under 0.05 was considered statistically significant.

Results: 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 TNF-alpha gene and PCOS (p-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 TNF-alpha gene.

Conclusion: This is the first study on the -1031(T/C) polymorphism of TNF-alpha gene in PCOS. We concluded that the -1031(T/C) polymorphism of TNF-alpha 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.

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Sequence analysis for the -1031(T/C) polymorphism of TNF-α gene using forward primer.
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Figure 2: Sequence analysis for the -1031(T/C) polymorphism of TNF-α gene using forward primer.

Mentions: For the RFLP analysis for the -1031(T/C) polymorphism of TNF-α gene, we recruited 217 patients and 144 control samples. In the present study, the frequency of T/T, T/C, and C/C genotypes of -1031(T/C) polymorphism in TNF-α gene was confirmed by sequence analysis and it showed different proportion (p-value = 0.0003, odd ratio (OR) = 2.53) between PCOS and control groups (Figure 2, Table 3). According to the X2 test, both groups were in Hardy-Weinberg equilibrium (HWE). The frequency of T/T genotype between PCOS and control groups was 66.3% and 84.7%, respectively. The frequency of T/C genotype between PCOS and control groups was 32.7% and 15.3%, respectively. And, the frequency of C/C genotype between PCOS and control groups was 0.9% and 0%, respectively. Our results demonstrated that there was significant difference between PCOS and control groups, indicating that there is strong association between the -1031(T/C) polymorphism in the promoter region of TNF-α gene and PCOS.


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

Yun JH, Choi JW, Lee KJ, Shin JS, Baek KH - Reprod. Biol. Endocrinol. (2011)

Sequence analysis for the -1031(T/C) polymorphism of TNF-α gene using forward primer.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3198925&req=5

Figure 2: Sequence analysis for the -1031(T/C) polymorphism of TNF-α gene using forward primer.
Mentions: For the RFLP analysis for the -1031(T/C) polymorphism of TNF-α gene, we recruited 217 patients and 144 control samples. In the present study, the frequency of T/T, T/C, and C/C genotypes of -1031(T/C) polymorphism in TNF-α gene was confirmed by sequence analysis and it showed different proportion (p-value = 0.0003, odd ratio (OR) = 2.53) between PCOS and control groups (Figure 2, Table 3). According to the X2 test, both groups were in Hardy-Weinberg equilibrium (HWE). The frequency of T/T genotype between PCOS and control groups was 66.3% and 84.7%, respectively. The frequency of T/C genotype between PCOS and control groups was 32.7% and 15.3%, respectively. And, the frequency of C/C genotype between PCOS and control groups was 0.9% and 0%, respectively. Our results demonstrated that there was significant difference between PCOS and control groups, indicating that there is strong association between the -1031(T/C) polymorphism in the promoter region of TNF-α gene and PCOS.

Bottom Line: A p-value under 0.05 was considered statistically significant.Sequence analyses also showed the -1031(T/C) polymorphism of TNF-alpha gene.We concluded that the -1031(T/C) polymorphism of TNF-alpha gene is associated with PCOS in a Korean population.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Biomedical Science, CHA University, Bundang CHA General Hospital, Gyeonggi-Do, Republic of Korea.

ABSTRACT

Background: A tumor necrosis factor-alpha 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 tumor necrosis factor-alpha 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 TNF-alpha gene with PCOS in a Korean population.

Methods: The -1031(T/C) polymorphism of TNF-alpha 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. X2 test and logistic regression were utilized analyze the association between two groups. A p-value under 0.05 was considered statistically significant.

Results: 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 TNF-alpha gene and PCOS (p-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 TNF-alpha gene.

Conclusion: This is the first study on the -1031(T/C) polymorphism of TNF-alpha gene in PCOS. We concluded that the -1031(T/C) polymorphism of TNF-alpha 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.

Show MeSH
Related in: MedlinePlus