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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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Related in: MedlinePlus

The -1031(T/C) polymorphism of the TNF-α gene. Shown is 2% agarose gel on the electrophoresis stained with ethidium bromide following Bbs I digestion. The 251- and 13-bp indicate the homozygosity of the T allele. However, 13-bp band was not observed in 2% gel. 180-, 71-, and 13-bp indicated the homozygosity of the C allele. And the T/C genotype indicates three bands of 251-, 180-, and 71-bp.
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Figure 1: The -1031(T/C) polymorphism of the TNF-α gene. Shown is 2% agarose gel on the electrophoresis stained with ethidium bromide following Bbs I digestion. The 251- and 13-bp indicate the homozygosity of the T allele. However, 13-bp band was not observed in 2% gel. 180-, 71-, and 13-bp indicated the homozygosity of the C allele. And the T/C genotype indicates three bands of 251-, 180-, and 71-bp.

Mentions: DNA fragments were electrophoresed on 2% agarose gels containing ethidium bromide in 0.5× Tris-Borate-EDTA buffer. Stained fragments were visualized under ultraviolet transilluminator. The fragments of 251- and 13-bp revealed homozygosity for the T allele and 180-, 71- and 13-bp fragments indicated homozygosity for the C allele (Figure 1). In addition, PCR products of each genotype were sequenced to confirm the genotyping results from the RFLP analysis.


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)

The -1031(T/C) polymorphism of the TNF-α gene. Shown is 2% agarose gel on the electrophoresis stained with ethidium bromide following Bbs I digestion. The 251- and 13-bp indicate the homozygosity of the T allele. However, 13-bp band was not observed in 2% gel. 180-, 71-, and 13-bp indicated the homozygosity of the C allele. And the T/C genotype indicates three bands of 251-, 180-, and 71-bp.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 1: The -1031(T/C) polymorphism of the TNF-α gene. Shown is 2% agarose gel on the electrophoresis stained with ethidium bromide following Bbs I digestion. The 251- and 13-bp indicate the homozygosity of the T allele. However, 13-bp band was not observed in 2% gel. 180-, 71-, and 13-bp indicated the homozygosity of the C allele. And the T/C genotype indicates three bands of 251-, 180-, and 71-bp.
Mentions: DNA fragments were electrophoresed on 2% agarose gels containing ethidium bromide in 0.5× Tris-Borate-EDTA buffer. Stained fragments were visualized under ultraviolet transilluminator. The fragments of 251- and 13-bp revealed homozygosity for the T allele and 180-, 71- and 13-bp fragments indicated homozygosity for the C allele (Figure 1). In addition, PCR products of each genotype were sequenced to confirm the genotyping results from the RFLP analysis.

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