Results
| PMID | 16938116 |
| Gene Name | IL6 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | IL-6 -634C/G, ICAM-1 469K/E |
| Population size | 438 |
| Population details | 438 (202 patients with endometriosis, 236 control women) |
| Sex | Female |
| Associated genes | IL-6, ICAM-1 |
| Other associated phenotypes |
Endometriosis |
|
Am J Reprod Immunol. 2006 Oct;56(4):267-74. Kitawaki, Jo| Kiyomizu, Miyo| Obayashi, Hiroshi| Ohta, Mitsuhiro| Ishihara, Hiroaki| Hasegawa, Goji| Nakamura, Naoto| Yoshikawa, Toshikazu| Honjo, Hideo Department of Obstetrics and Gynecology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-cho, Kamigyo-ku, Kyoto 602-8566, Japan. kitawaki@koto.kpu-m.ac.jp PROBLEM: Endometriosis is an immune-related, chronic inflammatory disease with a polygenic predisposition. The aim of this study was to investigate whether the interleukin-6 (IL-6) gene promoter region polymorphism (-634C/G) and the intercellular adhesion molecule-1 (ICAM-1) gene 469K/E polymorphism are responsible in part for the genetic susceptibility to endometriosis. METHODS OF STUDY: The IL-6 -634C/G and ICAM-1 469K/E genotypes were determined in 202 patients with endometriosis and 236 control women by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: There were no differences in the IL-6 -634C/G or the ICAM-1 469K/E genotypes and allele frequencies between control women and endometriosis patients collectively, or between control women and each clinical subgroup of endometriosis patients. Interestingly, the frequency of ICAM-1 EE homozygotes who concomitantly carried the IL-6 -634G allele was significantly higher in patients with endometriosis (chi(2) = 6.458, P = 0.0396, d.f. = 2). CONCLUSION: Our results suggest that the IL-6 -634C/G and ICAM-1 469K/E polymorphisms synergistically affect the susceptibility for endometriosis in the Japanese population. Mesh Terms: Adult| Amino Acid Substitution| Endometriosis/*genetics| Female| *Genetic Predisposition to Disease| Humans| Intercellular Adhesion Molecule-1/*genetics| Interleukin-6/*genetics| Japan| Middle Aged| Polymorphism, Single Nucleotide| *Promoter Re |
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