Polymorphisms in exons 1B and 1C of the type I interleukin-1 receptor gene in patients with endometriosis

American Journal of Reproductive Immunology

Volumn 56, Issue 3, 2006, Pages 178-184

  D'amora, Paulo ^a   Sato, Hélio ^a   Girão, Manoel J B C ^a   Silva, Ismael D C G ^a   Schor, Eduardo ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Endometriosis; Genetic polymorphism; Interleukin 1 receptor

Indexed keywords

ADENINE; AGAROSE; CYTOSINE; ETHIDIUM BROMIDE; INTERLEUKIN 1 RECEPTOR; INTERLEUKIN 1 RECEPTOR TYPE 1; TYROSINE; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ADULT; ARTICLE; CHI SQUARE TEST; CONFIDENCE INTERVAL; CONTROLLED STUDY; CORRELATION ANALYSIS; DNA EXTRACTION; ENDOMETRIOSIS; EXON; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HISTOPATHOLOGY; HUMAN; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK ASSESSMENT; UTERUS SURGERY;

5' UNTRANSLATED REGIONS; ADULT; AGED; CASE-CONTROL STUDIES; ENDOMETRIOSIS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MIDDLE AGED; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RECEPTORS, INTERLEUKIN-1; RECEPTORS, INTERLEUKIN-1 TYPE I;

EID: 33746747619     PISSN: 10467408     EISSN: 16000897     Source Type: Journal    
DOI: 10.1111/j.1600-0897.2006.00415.x     Document Type: Article

References (40)

1. Olive DL, Schwartz LB: Endometriosis. N Engl J Med 1993; 328:1759-1769.
2. Antsiferova YS, Sotnikova NY, Posiseeva LV, Shor AL: Changes in the T-helper cytokine profile and in lymphocyte activation at the systemic and local levels in women with endometriosis. Fertil Steril 2005; 84:1705-1711.
3. Evers JLH, Dunselman GAJ, Vanderlinden PJO: Markers for endometriosis. Baillieres Clin Obstet Gynecol 1993; 7:715-739.
4. Mori H, Sawairi M, Makagawa M, Itoh N, Wada K, Tamaya T: Peritoneal fluid interleukin-1 beta and tumor necrosis factor in patients with benign gynaecological disease. Am J Reprod Immunol 1991; 26:62-67.
5. Punnonen J, Teisala K, Ranta H, Bennett B, Punnonen R: Increased levels of interleukin-6 and interleukin-10 in the peritoneal fluid of patients with endometriosis. Am J Obstet Gynecol 1996; 174:1522-1526.
6. Rana N, Braun DP, House R, Gebel H, Rotman C, Dmowski WP: Basal and stimulated secretion of cytokines by peritoneal macrophages in women with endometriosis. Fertil Steril 1996; 65:925-930.
7. McLaren J, Dealtry G, Prentice A, Charnock-Jones DS, Smith SK: Decreased levels of a potent regulator of monocyte/macrophage activation, interleukin-13, in the peritoneal fluid of patients with endometriosis. Hum Reprod 1997; 2:1307-1310.
8. Rönnberg L: Endometriosis and infertility. Ann Med 1990; 22:91-96.
9. Bidwell J, Keen L, Gallagher G, Kimberly R, Huizinga T, McDermott MF, Oksenberg J, McNicholl J, Pociot F, Hardt C, D'Alfonso S: Cytokine gene polymorphism in human disease: On-line databases. Genes Immun 1999; 1:3-19.
10. Goetzl EJ, Sreedharan SP: Mediators of communication and adaptation in the neuroendocrine and immune systems. FASEB J 1992; 6:2646-2652.
11. Sims JE, Painter SL, Gow IR: Genomic organization of the type I and type II IL-1 receptors. Cytokine 1995; 7:483-490.
12. McDowell TL, Symons JA, Ploski R, Forre O, Duff GW: A genetic association between juvenile rheumatoid arthritis and a novel interleukin-1 alpha polymorphism. Arthritis Rheum 1995; 38:221-228.
13. 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.
14. Pociot F, Molvig J, Wogensen L, Worsaae H, Nerup J: A TaqI polymorphism in the human interleukin-1 beta (IL-1 beta) gene correlates with IL-1 beta secretion in vitro. Eur J Clin Invest 1992; 22:396-402.
15. Cantagrel A, Navaux F, Loubet-Lescoulie P, Nourhashemi F, Enault G, Abbal M, Constantin A, Laroche M, Mazieres B: Interleukin-1 β, 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.
16. Stokkers PC, van Aken BE, Basoski N, Reitsma PH, Tytgat GN, van Deventer SJ: Five genetic markers in interleukin 1 family in relation to inflammatory bowel disease. Gut 1998; 43:33-39.
17. Mansfield JC, Holden H, Tarlow JK, Di Giovine FS, McDowell TL, Wilson AG, Holdsworth CD, Duff GW: Novel genetic association between ulcerative colitis and the anti-inflammatory cytokine interleukin-1 receptor antagonist. Gastroenterology 1994; 106:637-642.
18. Pociot F, Wilson AG, Nerup J, Duff GW: No independent association between a tumor necrosis factor-alpha promoter region polymorphism and insulin-dependent diabetes mellitus. Eur J Immunol 1993; 23:3050-3053.
19. Crusius JB, Pena AS, Van Oosten BW, Bioque G, Garcia A, Dijkstra CD, Polman CH: Interleukin-1 receptor antagonist gene polymorphism and multiple sclerosis. Lancet 1995; 346:979.
20. Perrier S, Coussediere C, Dubost JJ, Albuisson E, Sauvezie B: IL-1 receptor antagonist (IL-1Ra) gene polymorphism in Sjögren's syndrome and rheumatoid arthritis. Clin Immunol Immunopathol 1998; 87:309-313.
21. 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.
22. Langdahl BL, Lokke E, Carstens M, Stenkjaer LL, Eriksen EF: Osteoporotic fractures are associated with an 86-base pair repeat polymorphism in the interleukin-1 receptor antagonist gene but not with polymorphisms in the interleukin-1beta gene. J Bone Miner Res 2000; 15:402-414.
23. Liu ZH, Cheng ZH, Yu YS, Tang Z, Li LS: Interleukin-1 receptor antagonist allele: Is it a genetic link between Henoch-Schonlein nephritis and IgA nephropathy ? Kidney Int 1997; 51:1938-1942.
24. Jeremias J, Ledger WJ, Witkin SS: Interleukin 1 receptor antagonist gene polymorphism in women with vulvar vestibulitis. Am J Obstet Gynecol 2000; 182:283-285.
25. Bidwell J, Keen L, Gallagher G, Kimberly R, Huizinga T, McDermott MF, Oksenberg J, McNicholl J, Pociot F, Hardt C, D'Alfonso S: Cytokine gene polymorphism in human disease: On-line databases, Supplement 1. Genes Immun 2001; 2:61-70.
26. Wieser F, Hefler L, Tempfer C, Vlach U, Schneeberger C, Huber J, Wenzl R: Polymorphism of the interleukin-1beta gene and endometriosis. J Soc Gynecol Inv 2003; 10:172-175.
27. Wieser F, Tempfer C, Schneeberger C, van Trotsenburg M, Huber J, Wenzl R: Interleukin-1 receptor antagonist polymorphism in women with peritoneal adhesions. BJOG 2002; 109:1298-1300.
28. Hsieh YY, Chang CC, Tsai FJ, Wu JY, Shi YR, Tsai HD, Tsai CH: Polymorphisms for interleukin-1 β (IL-1β) -511 promoter, IL-1 β exon 5, and IL-1 receptor antagonist: Nonassociation with endometriosis. J Assist Reprod Genet 2001; 18:506-511.
29. Nishida M, Nasu K, Fukuda J, Kawano Y, Narahara H, Miyakawa I: Down-regulation of interleukin-1 receptor type 1 expression causes the dysregulated expression of CXC chemokines in endometriotic stromal cells: A possible mechanism for the altered immunological functions in endometriosis. J Clin Endocrinol Metab 2004; 89:5094-5100.
30. D'Amora P, Haddad-Filho J, Katz SG: Interleukin-1 receptor type I expression in the endometrium of patients with endometriosis and infertility complaints. Fertil Steril 2002; 76:S197 (abstract).
31. Bellehumeur C, Collette T, Maheux R, Mailloux J, Villeneuve M, Akoum A: Increased soluble interleukin-1 receptor type II proteolysis in the endometrium of women with endometriosis. Hum Reprod 2005; 20:1177-1184.
32. Kharfi A, Boucher A, Akoum A: Abnormal interleukin-1 receptor type II gene expression in the endometrium of women with endometriosis. Biol Reprod 2002; 66:401-406.
33. Kharfi A, Akoum A: Correlation between decreased type-II interleukin-1 receptor and increased monocyte chemotactic protein-1 expression in the endometrium of women with endometriosis. Am J Reprod Immunol 2001; 45:193-199.
34. Akoum A, Jolicoeur C, Kharfi A, Aube M: Decreased expression of the decoy interleukin-1 receptor type II in human endometriosis. Am J Pathol 2001; 158:481-489.
35. Bergholdt R, Karlsen AE, Johannesen J, Hansen PM, Dinarello CA, Nerup J, Pociot F: Characterization of polymorphisms of an interleukin 1 receptor type 1 gene (IL1R1) promotor region (P2) and their relation to insulin-dependent diabetes mellitus (IDDM). Cytokine 1995; 7:727-733.
36. Sitara D, Wood N, Morse H, Keen L, Bidwell J: A Brs BI polymorphism in exon 1C of the human interleukin-1 receptor type I (IL-1RI) gene. Genes Immun 2000; 1:234-235.
37. Balasch J, Creus M, Fabregues F, Carmona F, Ordi J, Martinez-Roman S, Vanrell JÁ: Visible and non-visible endometriosis at laparoscopy in fertile and infertile women and in patients with chronic pelvic pain: a prospective study. Hum Reprod 1996; 11:387-391.
38. Ye K, Dinarello CA, Clark BD: Identification of the promoter region of human interleukin 1 type 1 receptor gene: Multiple initiation sites, high G+C content, and constitutive expression. Proc Natl Acad Sci USA 1993; 90:2295-2299.
39. Ye K, Vannier E, Clark BD, Sims JE, Dinarello CA: Expression of interleukin-1 type 1 receptor is regulated at multiple levels: Evidence for multiple promoters and role of distinct 5′ untranslated regions in the control of translation. Lymphokine Cytokine Res 1993; 12:382 (abstract).
40. Wang Z, Yoshida S, Negoro K, Kennedy S, Barlow D, Maruo T: Polymorphisms in the estrogen receptor beta gene but not estrogen receptor alpha gene affect the risk of developing endometriosis in a Japanese population. Fertil Steril 2004; 81:1650-1656.