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Analysis of an lnterleukin-6 Gene Promoter Polymorphism in Women With Endometriosis By Pyrosequencing

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Abstract

Objective

Interleukin (IL)-6 has been implicated in the etiology of endometriosis. A single nucleotide polymorphism (SNP) at position - 174 in the IL-6 gene promoter appears to influence IL-6 transcription rates in vitro and basal IL-6 levels in vivo. We determined the genotype and the allele frequencies of the -174 IL-6 promoter polymorphism and the corresponding IL-6 serum levels in women with endometriosis.

Methods

The pyrosequencing technique was used to assess the IL-6 genotypes in 94 women with histologically confirmed endometriosis (study group). A series of 70 healthy women without history of uterine disease served as clinical controls (control group).

Results

Allele frequencies for the G allele among women with and without endometriosis were 59.6% and 55.0%, respectively (P =.430; odds ratio [OR] 0.83, 95% confidence interval [CI] 0.53, 1.29). Homozygotes for the protective allele C were present in 17.0% of women with endometriosis and in 18.6% of controls were homozygous for the protective allele C (P =.797; OR 0.90, 95% CI 0.40, 2.02). When patients with various disease manifestations were compared, we found an association between the -174 G allele and chocolate cysts (P =.037). Serum levels of IL-6 were significantly higher in women with endometriosis than in controls (P <.001), with highest levels in women with chocolate cysts. There was no association between serum IL-6 levels and IL-6 genotype.

Conclusion

The IL-6 promoter polymorphism -174 G/C does not contribute significantly to overall disease susceptibility but does predispose the carrier to distinct endometriosis with chocolate cysts. A genetically determined high IL-6 response might play a pathogenic role in this disease condition.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Division of Gynecological Endocrinology and Reproductive Medicine, and Division of Gynecology and Obstetrics, University of Vienna, Waehringer Guertel 18-20, A-1090, Vienna, Austria

    Fritz Wieser MD, Gerhild Fabjani, Clemens Tempfer MD, Christian Schneeberger PhD, Michael Sator MD, Johannes Huber MD & Rene Wenzl MD

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  1. Fritz Wieser MD
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  2. Gerhild Fabjani
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  3. Clemens Tempfer MD
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  4. Christian Schneeberger PhD
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  5. Michael Sator MD
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  6. Johannes Huber MD
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  7. Rene Wenzl MD
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Correspondence to Rene Wenzl MD.

Additional information

This work was supported by the Jubiläumsfond of the Österreichische Nationalbank (grant 9194).

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Wieser, F., Fabjani, G., Tempfer, C. et al. Analysis of an lnterleukin-6 Gene Promoter Polymorphism in Women With Endometriosis By Pyrosequencing. Reprod. Sci. 10, 32–36 (2003). https://doi.org/10.1016/S1071-5576(02)00187-9

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  • DOI: https://doi.org/10.1016/S1071-5576(02)00187-9

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