Endometriosis: Polymorphisms for Interleukin-1β (IL-1β)-511 Promoter, IL-1β Exon 5, and IL-1 Receptor Antagonist: Nonassociation with Endometriosis

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This study found no significant differences in IL-1β and IL-1 receptor antagonist gene polymorphisms between women with and without endometriosis.

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The study investigated whether polymorphisms in the interleukin-1β (IL-1β) promoter at -511, IL-1β exon 5, and the IL-1 receptor antagonist (IL-1Ra) gene are associated with endometriosis susceptibility by comparing genotype and allele frequencies between 120 women with endometriosis and 103 controls without endometriosis. Using PCR-based detection of the specified variants, the proportions of genotypes/alleles across both IL-1β and IL-1Ra polymorphisms were nonsignificantly different between groups. The authors concluded that there is no association and that these polymorphisms are not useful predictive markers for susceptibility. This paper is centrally about endometriosis — it tests whether IL-1β (-511 and exon 5) and IL-1Ra polymorphisms are markers of endometriosis susceptibility and finds no association.

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Abstract

PurposeWe aimed to investigate if interleukin-1 beta (IL-1 beta) and IL-1 receptor antagonist (IL-1Ra) gene polymorphism could be used as markers of susceptibility in endometriosis.Materials and methodsWomen were divided into two groups: 1) endometriosis (n = 120); 2) nonendometriosis groups (n = 103). Polymorphisms for IL-1 beta-511 promoter, IL-1 beta exon 5, and IL-1Ra were detected by polymerase chain reaction. Genotypes and allelic frequencies for these polymorphisms in both groups were compared.ResultsProportions of different IL-1 and IL-1Ra polymorphisms in both groups were nonsignificantly different. Proportions of C homozygote/heterozygote/T homozygote for IL-1 beta-511 promoter in both groups were 1) 21.6/59.1/19.1% and 2) 26.2/50.5/23.3%. Proportions of E1 homozygote/heterozygote/E2 homozygote for IL-1 beta exon 5 in both groups were 1) 91.6/5/3.3% and 2) 95.15/4.85/0%. Allele I/II/IV/V for IL-1Ra in both groups were 1) 92.5/5.4/1.6/0.4% and 2) 95.1/3.9/1/0%.ConclusionsAssociation of endometriosis with IL-1 beta-511 promoter, IL-1 beta exon 5, and IL-1 receptor antagonist gene polymorphisms doesn't exist. These polymorphisms are not useful markers for prediction of endometriosis susceptibility.
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Abstract

Purpose: We aimed to investigate if interleukin-1β (IL-1β) and IL-1 receptor antagonist (IL-1Ra) gene polymorphism could be used as markers of susceptibility in endometriosis.

Materials and methods

Women were divided into two groups: 1) endometriosis (n = 120); 2) nonendometriosis groups (n = 103). Polymorphisms for IL-1β-511 promoter, IL-1β exon 5, and IL-1Ra were detected by polymerase chain reaction. Genotypes and allelic frequencies for these polymorphisms in both groups were compared.

Results

Proportions of different IL-1 and IL-1Ra polymorphisms in both groups were nonsignificantly different. Proportions of C homozygote/heterozygote/T homozygote for IL-1β-511 promoter in both groups were 1) 21.6/59.1/19.1% and 2) 26.2/50.5/23.3%. Proportions of E1 homozygote/heterozygote/E2 homozygote for IL-1β exon 5 in both groups were 1) 91.6/5/3.3% and 2) 95.15/4.85/0%. Allele I/II/IV/V for IL-1Ra in both groups were 1) 92.5/5.4/ 1.6/0.4% and 2) 95.1/3.9/1/0%.

Conclusions

Association of endometriosis with IL-1β-511 promoter, IL-1β exon 5, and IL-1 receptor antagonist gene polymorphisms doesn't exist. These polymorphisms are not useful markers for prediction of endometriosis susceptibility. Similar content being viewed by others

References

Akoum A, Jolicoeur C, Boucher A: Estradiol amplifies interleukin-1-induced monocyte chemotactic protein-1 expression by ectopic endometrial cells of women with endometriosis. J Clin Endocrinol Metab 2000;85:896-904 Pellicer A, Albert C, Mercader A, Bonilla-Musoles F, Remohi J, Simon C: The follicular and endocrine environment in women with endometriosis: Local and systemic cytokine production. Fertil Steril 1998;70:425-431 Carlberg M, Nejaty J, Froysa B, Guan Y, Soder O, Bergqvist A: Elevated expression of tumour necrosis factor alpha in cultured granulosa cells from women with endometriosis. Hum Reprod 2000;15:1250-1255 Miossec P, Dinarello CA, Ziff M: Interleukin-1-lymphocyte chemotactic activity in rheumatoid arthritis synovial fluid. Arthritis Rheum 1986;29:461-470 Nouri A, Panayi GS, Goodman SM: Cytokines and the chronic inflammation of rheumatic disease, I. The presence of interleukin-1 in synovial fluids. Clin Exp Immunol 1984;55: 295-302 Odukoya OA, Ajjan R, Lim K, Watson PF, Weetman AP, Cooke ID: The pattern of cytokine mRNA expression in ovarian endometriomata. Mol Hum Reprod 1997;3:393-397 Demeter J, Messer G, Ramisch S, Mee JB, di Giovine FS, Schmid M, Herrmann F, Porzsolt F: Polymorphism within the second intron of the IL-1 receptor antagonist gene in patients with hematopoietic malignancies. Cytokines Mol Ther 1996;2:239-242 El-Omar EM, Carrington M, Chow WH, McColl KE, Bream JH, Young HA, Herrera J, Lissowska J, Yuan CC, Rothman N, Lanyon G, Martin M, Fraumeni JF Jr, Rabkin CS: Interleukin-1 polymorphisms associated with increased risk of gastric cancer. Nature 2000;404:398-402 Cantagrel A, Navaux F, Loubet-Lescoulie P, Nourhashemi F, Enault G, Abbal M, Constantin A, Laroche M, Mazieres B: Interleukin-1β, interleukin-1 receptor antagonist, interleukin-4, and interleukin-10 gene polymorphisms. Relationship to occurrence and severity of rheumatoid arthritis. Arthritis Rheu 1999;42:1093-1100 Rossi V, Breviario F, Ghezzi P, Dejana E, Montovani A: Prostacyclin synthesis induced by vascular cells by interleukin-1. Science 1985;229:174-176 Moos V, Rudwaleit M, Herzog V, Hohlig K, Sieper J, Muller B: Association of genotypes affecting the expression of interleukin-1beta or interleukin-1 receptor antagonist with osteoarthritis. Arthritis Rheum 2000;43:2417-2422 Di Giovine FS, Takhsh E, Blakemore AIF, Duff GW: Single base polymorphism at-511 in the human interleukin-1β. Hum Mol Genet 1992;1:450 Pociot F, Molvig J, Wogensen L, Worsaae H, Nerup J: A TaqI polymorphism in the human interleukin-1β (IL-β) gne correlates with IL-1β secretion in vitro. Eur J Clin Invest 1992;22:396-402 Vigano P, Gaffuri B, Somigliana E, Busacca M, Di Blasio AM, Vignali M: Expression of intercellular adhesion molecule (ICAM)-1 mRNA and protein is enhanced in endometriosis versus endometrial stromal cells in culture. Mol Hum Reprod 1998;4:1150-1156 Keenan JA, Chen TT, Chadwell NL, Torry DS, Caudle MR: IL-1 beta, TNF-alpha, and IL-2 in peritoneal fluid and macrophage-conditioned media of women with endometriosis. Am J Reprod Immunol 1995;34:381-385 Tseng JF, Ryan IP, Milam TD, Murai JT, Schriock ED, Landers DV, Taylor RN: Interleukin-6 secretion in vitro is up-regulated in ectopic and eutopic endometrial stromal cells from women with endometriosis. J Clin Endocrinol Metab 1996;81:1118-1122 Arici A, Tazuke SI, Attar E, Kliman HJ, Olive DL: Interleukin-8 concentration in peritoneal fluid of patients with endometriosis and modulation of interleukin-8 expression in human mesothelial cells. Mol Hum Reprod 1996;2:40-45 Sillem M, Prifti S, Monga B, Arslic T, Runnebaum B: Integrinmediated adhesion of uterine endometrial cells from endometriosis patients to extracellular matrix proteins is enhanced by tumor necrosis factor alpha (TNF alpha) and interleukin-1 (IL-1). Eur J Obstet Gynecol Reprod Biol 1999;87:123-127 Raiter-Tenenbaum A, Baranao RI, Etchepareborda JJ, Meresman GF, Rumi LS: Functional and phenotypic alterations in peritoneal macrophages from patients with early and advanced endometriosis. Arch Gynecol Obstet 1998;261:147-157 Koumantakis E, Matalliotakis I, Neonaki M, Froudarakis G, Georgoulias V: Soluble serum interleukin-2 receptor, interleukin-6 and interleukin-1a in patients with endometriosis and in controls. Arch Gynecol Obstet 1994;255:107-112 Robertson SA, Seamark RF: The role of cytokines in gestation. Crit Rev Immunol 1994;14:239-292 Copeland NG, Silan CM, Kingsley DM, Jenkins NA, Cannizzaro LA, Croce CM, et al.: Chromosomal location of murine and human IL-1 receptor genes. Genomic 1991;9:44-50 Mark LL, Haffajee AD, Socransky SS, Kent RL Jr, Guerrero D, Kornman K, Newman M, Stashenko P: Effect of the interleukin-1 genotype on monocyte IL-1beta expression in subjects with adult periodontitis. J Periodontal Res 2000;35:172-177 Santtila S, Savinainen K, Hurme M: Presence of the IL-1RA allele 2 (IL1RN¤2) is associated with enhanced IL-1beta production in vitro. Scand J Immunol 1998;47:195-198 Wilkinson RJ, Patel P, Llewelyn M, Hirsch CS, Pasvol G, Snounou G, et al.: Influence of polymorphism in the genes for the interleukin (IL)-1 receptor antagonist and IL-1beta on tuberculosis. J Exp Med 1999;189:1863-1874 Nemetz A, Nosti-Escanilla MP, Molnar T, Kope A, Kovacs A, Feher J, Tulassay Z, et al.: IL1B gene polymorphisms influence the course and severity of inflammatory bowel disease. Immunogenetics 1999;49:527-531 Mori H, Sawairi M, Nakagawa M, Itoh N, Wada K, Tamaya T: Expression of interleukin-1 (IL-1) beta messenger ribonucleic acid (mRNA) and IL-1 receptor antagonist mRNA in peritoneal macrophages from patients with endometriosis. Fertil Steril 1992;57:535-542 Hurme M, Santtila S: IL-1 receptor antagonist (IL-1Ra) plasma levels are co-ordinately regulated by both IL-1Ra and IL-1beta genes. Eur J Immunol 1998;28:2598-2602 Blakemore AIF, Tarlow JK, Cork MJ, Gordon C, Emery P, Duff GW: Interleukin-1 receptor antagonist gene polymorphism as a disease severity factor in systemic lupus erythematosus. Arthritis Rheu 1994:37:1380-1385 Tarlow JK, Cork MJ, Clay FE, Schmitt-Egenolf M, Crane AM, Stierie C, et al.: Association between interleukin-1 receptor antagonist gene polymorphism and early and late-onset psoriasis. Br J Dermatol 1997;136:147-148 Tarlow JK, Clay FE, Cork MJ, et al.: Severity of alopecia areata is associated with a polymorphism in the interleukin-1 receptor antagonist gene. J Invest Dermatol 1994;103:387-390 Clay FE, Cork MJ, Tarlow JK, et al.: Interleukin-1 receptor antagonist gene polymorphism association with lichen sclerosus. Hum Genet 1994;94:407-410 Mansfield JC, Holden H, Tarlow JK, et al.: Novel genetic association between ulcerative colitis and the anti-inflammatory cytokine interleukin-1 receptor antagonist. Gastroenterology 1994;106:637-642 Licastro F, Pedrini S, Ferri C, Casadei V, Govoni M, Pession A, Sciacca FL, Veglia F, Annoni G, Bonafe M, Olivieri F, Franceschi C, Edoardo Grimaldi LM: Gene polymorphism affecting alpha1-antichymotrypsin and interleukin-1 plasma levels increases Alzheimer's disease risk. Ann Neurol 2000;48:388-391 Nishimura M, Mizuta I, Mizuta E, Yamasaki S, Ohta M, Kuno S: Influence of interleukin-1beta gene polymorphisms on age-at-onset of sporadic Parkinson's disease. Neurosci Lett 2000;284:73-76 Kanemoto K, Kawasaki J, Miyamoto T, Obayashi H, Nishimura M: Interleukin (IL)1beta, IL-1alpha, and IL-1 receptor antagonist gene polymorphisms in patients with temporal lobe epilepsy. Ann Neurol 2000;47:571-574 Katila H, Hanninen K, Hurme M: Polymorphisms of the interleukin-1 gene complex in schizophrenia. Mol Psychiatry 1999;4:179-181 Son K, Tomita Y, Shimizu T, Nishinarita S, Sawada S, Horie T: Abnormal IL-1 receptor antagonist production in patients with polymyositis and dermatomyositis. Intern Med 2000;39:128-135 Kantarci OH, Atkinson EJ, Hebrink DD, McMurray CT, Weinshenker BG: Association of two variants in IL-1beta and IL-1 receptor antagonist genes with multiple sclerosis. J Neuroimmunol 2000;106:220-227 Hulkkonen J, Vilpo J, Vilpo L, Koski T, Hurme M: Interleukin-1 beta, interleukin-1 receptor antagonist and interleukin-6 plasma levels and cytokine gene polymorphisms in chronic lymphocytic leukemia: Correlation with prognostic parameters. Haematologica 2000;85:600-606 Dewberry R, Holden H, Crossman D, Francis S: Interleukin-1 receptor antagonist expression in human endothelial cells and atherosclerosis. Arterioscler Thromb Vasc Biol 2000;20:2394-2400 Francis SE, Camp NJ, Dewberry RM, Gunn J, Syrris P, Carter ND, Jeffery S, Kaski JC, Cumberland DC, Duff GW, Crossman DC: Interleukin-1 receptor antagonist gene polymorphism and coronary artery disease. Circulation 1999;99:861-866 Takamatsu M, Yamauchi M, Maezawa Y, Saito S, Maeyama S, Uchikoshi T: Genetic polymorphisms of interleukin-1beta in association with the development of alcoholic liver disease in Japanese patients. Am J Gastroenterol 2000;95:1305-1311 Smithies AM, Sargen K, Demaine AG, Kingsnorth AN: Investigation of the interleukin 1 gene cluster and its association with acute pancreatitis. Pancreas 2000;20:234-240 Nemetz A, Kope A, Molnar T, Kovacs A, Feher J, Tulassay Z, Nagy F, Garcia-Gonzalez MA, Pena AS: Significant differences in the interleukin-1beta and interleukin-1 receptor antagonist gene polymorphisms in a Hungarian population with inflammatory bowel disease. Scand J Gastroenterol 1999;34:175-179 Shu KH, Lee SH, Cheng CH, Wu MJ, Lian JD: Impact of interleukin-1 receptor antagonist and tumor necrosis factoralpha gene polymorphism on IgA nephropathy. Kidney Int 2000;58:783-789 Ishii T, Matsuse T, Teramoto S, Matsui H, Miyao M, Hosoi T, Takahashi H, Fukuchi Y, Ouchi Y: Neither IL-1beta, IL-1 receptor antagonist, nor TNF-alpha polymorphisms are associated with susceptibility to COPD. Respir Med 2000;94:847-851 Zheng C, Huang DR, Bergenbrant S, Sundblad A, Osterborg A, Bjorkholm M, Holm G, Yi Q: Interleukin 6, tumour necrosis factor alpha, interleukin 1beta and interleukin 1 receptor antagonist promoter or coding gene polymorphisms in multiple myeloma. Br J Haematol 2000;109:39-45 Kristiansen OP, Pociot F, Johannesen J, Bergholdt R, Dinarello CA, Nerup J, Mandrup-Poulsen T: Linkage disequilibrium testing of four interleukin-1 gene-cluster polymorphisms in Danish multiplex families with insulin-dependent diabetes mellitus. Cytokine 2000;12:171-175 Bajnok E, Takacs I, Vargha P, Speer G, Nagy Z, Lakatos P: Lack of association between interleukin-1 receptor antagonist protein gene polymorphism and bone mineral density in hungarian postmenopausal women. Bone 2000;27:559-562 Manzoli A, Andreotti F, Varlotta C, Mollichelli N, Verde M, van de Greef W, Sperti G, Maseri A: Allelic polymorphism of the interleukin-1 receptor antagonist gene in patients with acute or stable presentation of ischemic heart disease. Cardiologia 1999;44:825-830 Author information Authors and Affiliations Rights and permissions About this article Cite this article Hsieh, YY., Chang, CC., Tsai, FJ. et al. Endometriosis: Polymorphisms for Interleukin-1β (IL-1β)-511 Promoter, IL-1β Exon 5, and IL-1 Receptor Antagonist: Nonassociation with Endometriosis. J Assist Reprod Genet 18, 506–511 (2001). https://doi.org/10.1023/A:1016653127262 Issue date: DOI: https://doi.org/10.1023/A:1016653127262

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endometriosis

MeSH descriptors

Endometriosis Interleukin-1 Polymorphism, Genetic Sialoglycoproteins Asian People Asian People Endometriosis Exons Female Gene Frequency Genetic Markers Genetic Predisposition to Disease Humans Interleukin-1 Interleukin 1 Receptor Antagonist Protein Promoter Regions, Genetic Sialoglycoproteins Taiwan

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