Synergistic effect of interleukin‐6 promoter (IL6 −634C/G) and intercellular adhesion molecule‐1 (ICAM‐1 469K/E) gene polymorphisms on the risk of endometriosis in Japanese women

Jo Kitawaki, Kitawaki J, Miyo Kiyomizu, Kiyomizu M, Obayashi H, Hiroshi Obayashi, Mitsuhiro Ohta, Ohta M, Ishihara H, Hiroaki Ishihara, Goji Hasegawa, Hasegawa G, Nakamura N, Naoto Nakamura, Toshikazu Yoshikawa, Yoshikawa T, Honjo H, Hideo Honjo
American journal of reproductive immunology (New York, N.Y. : 1989) · 2006 · vol. 56(4) , pp. 267–274 · doi:10.1111/j.1600-0897.2006.00426.x · PMID:16938116 · W2023492945
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This study found that the IL-6 -634G allele combined with the ICAM-1 EE genotype significantly increased endometriosis risk in Japanese women.

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Abstract

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.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Genetic Predisposition to Disease Intercellular Adhesion Molecule-1 Interleukin-6 Promoter Regions, Genetic Adult Amino Acid Substitution Endometriosis Female Humans Intercellular Adhesion Molecule-1 Interleukin-6 Japan Middle Aged Polymorphism, Single Nucleotide Risk

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