Results
| PMID | 12517591 |
| Gene Name | IL6 |
| Condition | Endometriosis |
| Association |
Associated |
| Population size | 164 |
| Population details | 164 (94 women with histologically confirmed endometriosis, 70 healthy controls) |
| Sex | Female |
| Associated genes | IL-6 |
| Other associated phenotypes |
Endometriosis |
|
J Soc Gynecol Investig. 2003 Jan;10(1):32-6. Wieser, Fritz| Fabjani, Gerhild| Tempfer, Clemens| Schneeberger, Christian| Sator, Michael| Huber, Johannes| Wenzl, Rene Department of Obstetrics and Gynecology, Division of Gynecological Endocrinology and Reproductive Medicine, Vienna, Austria. 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. 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).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. 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. Mesh Terms: Alleles| Endometriosis/*genetics| Female| Gene Frequency| Genetic Predisposition to Disease| Genotype| Humans| Infertility, Female/genetics| *Interleukin-6/blood/*genetics| Ovarian Cysts/genetics| Polymerase Chain Reaction| *Polymorphism, Genet |
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