Genetics of endometriosis: Current status and prospects

Frontiers in Bioscience

Volumn 12, Issue 9, 2007, Pages 3247-3255

  Vigano, Paola ^a   Somigliana, Edgardo ^b   Vignali, Michele ^c   Busacca, Mauro ^c   Di Blasio, Anna Maria ^a  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^b Fondazione Policlinico Mangiagalli Regina Elena   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

Association studies; Endometriosis; Genetics; Linkage studies; Review

Indexed keywords

ENDOMETRIOSIS; EPIDEMIOLOGY; FEMALE; GENETICS; HUMAN; REVIEW;

ENDOMETRIOSIS; EPIDEMIOLOGY, MOLECULAR; FEMALE; HUMANS;

EID: 34347209789     PISSN: 27686701     EISSN: 27686698     Source Type: Journal    
DOI: 10.2741/2308     Document Type: Article

References (96)

1. International human genome sequencing consortium. Initial sequencing and analysis of the human genome. Nature 409, 860-921 (2001)
2. J. N. Hirschhorn and M. J. Daly: Genome-wide association studies for common diseases and complex traits. Nat Rev Gen 6, 95-108 (2005) (Pubitemid 40179532)
3. R. Sachidanandam, D. Weissman, S. C. Schmidt, J. M. Kakol, L. D. Stein, G. Marth, S. Sherry, J. C. Mullikin, B. J. Mortimore, D. L. Willey, S. E. Hunt, C. G. Cole, C. Coggill, C. M. Rice, Z. Ning, J. Rogers, D. R. Bentley, P. Y. Kwok, E. R. Mardis, R. T. Yeh, B. Schultz, L. Cook, R. Davenport, M. Dante, L. Fulton, L. Hillier, R. H. Waterston, J. D. McPherson, B. Gilman, S. Schaffner, W. J. Van Etten, D. Reich, J. Higgins, M. J. Daly, B. Blumenstiel, J. Baldwin, N. Stange-Thomann, M. C. Zody, L. Linton, E. S. Lander and D. Altshuler; International SNP Map Working Group: A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409, 928-933 (2001) (Pubitemid 32165347)
4. J. N. Hirschhorn: Genetic epidemiology of type 1 diabetes. Pediatr Diabetes 4:87-100 (2003) (Pubitemid 36818101)
5. J. N. Hirschhorn: Genetic Approaches to Studying Common Diseases and Complex Traits. Ped Res 5, 74R-77R (2005) (Pubitemid 40593249)
6. R:S: Spielman, L. Baker and C. M. Zmijewski: Gene dosage and susceptibility to insulin-dependent diabetes. Ann Hum Genet 44, 135-150 (1980) (Pubitemid 11215106)
7. L. D. Atwood, N. L. Heard-Costa, L. A. Cupples, C. E. Jaquish, P. W. Wilson and R. B. D'Agostino: Genomewide linkage analysis of body mass index across 28 years of the Framingham Heart Study. Am J Hum Genet 71, 1044-1050 (2002) (Pubitemid 35305224)
8. D. Levy, A. L. DeStefano, M. G. Larson, C. J. O'Donnell, R. P. Lifton, H. Gavras, L. A. Cupples and R. H. Myers: Evidence for a gene influencing blood pressure on chromosome 17. Hypertension 36, 477-483 (2000)
9. L. C. Giudice and L. C Kao: Endometriosis. Lancet 364, 1789-1799 (2004) (Pubitemid 39488065)
10. P. Vigano, F. Parazzini, E. Somigliana and P. Vercellini: Endometriosis: epidemiology and aetiological factors. Best Pract Res Clin Obstet Gynaecol 18, 177-200 (2004) (Pubitemid 38786627)
11. D. H. Barlow and S. Kennedy: Endometriosis: New Genetic Approaches and Therapy. Ann Rev Med, 56:345-356 (2005) (Pubitemid 40299787)
12. S. A Treloar, D. T. O'Connor, V. M. O'Connor and N. G. Martin: Genetic influences on endometriosis in an Australian twin sample. Fertil Steril 71, 701-710 (1999) (Pubitemid 29149422)
13. J. L. Simpson, S. Elias, L. R. Malinak and V. C. Jr. Buttram: Heritable aspects of endometriosis. I. Genetic studies. Am J Obstet Gynecol 137, 327-331 (1980) (Pubitemid 10068718)
14. D. Coxhead and E. J. Thomas: Familiar inheritance of endometriosis in a British population. A case control study. J Obstet Gynecol 13, 42-44 (1993) (Pubitemid 23106931)
15. M. H. Moen and P. Magnus: The familial risk of endometriosis. Acta Obstet Gynecol Scand 72, 560-564 (1993) (Pubitemid 23316929)
16. H. Stefansson, R. T Geirsson, V. Steinthorsdottir, H. Jonsson, A. Manolescu, A. Kong, G. Ingadottir, J. Gulcher and K. Stefansson: Genetic factors contribute to the risk of developing endometriosis. Hum Reprod 17, 555-559 (2002) (Pubitemid 34232419)
17. F. Bischoff and J. L. Simpson: Genetics of endometriosis: heritability and candidate genes. Best Pract Res Clin Obstet Gynaecol 18, 219-232 (2004) (Pubitemid 38786629)
18. E. S. Lander and N. J. Schork: Genetic dissection of complex traits. Science 265, 2037-2048 (1994) (Pubitemid 24325685)
19. A. Chakravarti: Population genetics-making sense out of sequence. Nat Genet 21, 56-60 (1999) (Pubitemid 29031494)
20. D. E. Reich and E. S. Lander: On the allelic spectrum of human disease. Trends Genet 17, 502-510 (2001) (Pubitemid 32763048)
21. K. E. Lohmueller, C. L. Pearce, M. Pike, E. S. Lander, J. N. Hirschhorn: Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 33, 177-182 (2003) (Pubitemid 36177070)
22. J. P. Hugot, M. Chamaillard, H. Zouali, S. Lesage, J. P. Cezard, J. Belaiche, S. Almer, C. Tysk, C. A. O'Morain, M. Gassull, V. Binder, Y. Finkel, A. Cortot, R. Modigliani, P. Laurent-Puig, C. Gower-Rousseau, J. Macry, J. F. Colombel, M. Sahbatou and G. Thomas: Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411, 599-603 (2001) (Pubitemid 32531408)
23. H. Stefansson, J. Sarginson, A. Kong, P. Yates, V. Steinthorsdottir, E. Gudfinnsson, S. Gunnarsdottir, N. Walker, H. Petursson, C. Crombie, A. Ingason, J. R. Gulcher, K. Stefansson and D. St Clair D: Association of neuregulin 1 with schizophrenia confirmed in a Scottish population. Am J Hum Genet 72, 83-87 (2003) (Pubitemid 36056844)
24. L. Nistico, R. Buzzetti, L. E. Pritchard, B. Van der Auwera, C. Giovannini, E. Bosi, M. T. Larrad, M. S. Rios, C. C. Chow, C. S. Cockram, K. Jacobs, C. Mijovic, S. C. Bain, A. H. Barnett, C. L. Vandewalle, F. Schuit, F. K. Gorus, R. Tosi, P. Pozzilli and J. A. Todd: The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. Hum Mol Genet 5, 1075-1080 (1996) (Pubitemid 26232296)
25. M. Stoll, B. Corneliussen, C. M. Costello, G. H. Waetzig, B. Mellgard, W. A. Koch, P. Rosenstiel, M. Albrecht, P. J. Croucher, D. Seegert, S. Nikolaus, J. Hampe, T. Lengauer, S. Pierrou, U. R. Foelsch, C. G. Mathew, M. Lagerstrom-Fermer and S. Schreiber: Genetic variation in DLG5 is associated with inflammatory bowel disease. Nature Genet 36, 476-480 (2004) (Pubitemid 38620031)
26. J. P. Ioannidis, T. A. Trikalinos, E. E. Ntzani and D. G. Contopoulos-Ioannidis: Genetic associations in large versus small studies: an empirical assessment. Lancet 361, 567-71 (2003) (Pubitemid 36207475)
27. M. Vignali, M. Infantino, R. Matrone, I. Chiodo, E. Somigliana, M. Busacca and P. Vigano P: Endometriosis: novel etiopathogenetic concepts and clinical perspectives. Fertil Steril 78, 665-678 (2002)
28. K. T. Zondervan, L. R. Cardon and S. H. Kennedy SH: What makes a good case-control study? Design issues for complex traits such as endometriosis. Hum Reprod 17, 1415-1423 (2002) (Pubitemid 34661783)
29. S. A. Treloar, J. Wicks, D. R. Nyholt, G. W. Montgomery, M. Bahlo, V. Smith, G. Dawson, I. J. Mackay, D. E. Weeks, S. T. Bennett, A. Carey, K. R. Ewen-White, D. L. Duffy, D. T. O'Connor, D. H. Barlow, N. G. Martin and S. H. Kennedy: Genomewide Linkage Study in 1, 176 Affected Sister Pair Families Identifies a Significant Susceptibility Locus for Endometriosis on Chromosome 10q26. Am J Hum Genet 77, 365-376 (2005) (Pubitemid 41192644)
30. D. M. Dinulescu, T. A. Ince, B. J. Quade, S. A. Shafer, D. Crowley and T. Jacks: Role of K-ras and Pten in the development of mouse models of endometriosis and endometrioid ovarian cancer. Nat Med 11, 63-70 (2005) (Pubitemid 40215839)
31. S. W. Guo: Glutathione S-transferases M1/T1 gene polymorphisms and endometriosis: a meta-analysis of genetic association studies. Mol Hum Reprod 11, 729-743 (2005)
32. S. W. Guo: Association of endometriosis risk and genetic polymorphisms involving sex steroid biosynthesis and their receptors: a meta-analysis. Gynecol Obstet Invest 61, 90-105 (2006)
33. M. Tsuchiya, T. Katoh, H. Motoyama, H. Sasaki, S. Tsugane, T. Ikenoue. Analysis of the AhR, ARNT, and AhRR gene polymorphisms: genetic contribution to endometriosis susceptibility and severity. Fertil Steril 84, 454-458 (2005) (Pubitemid 41125269)
34. T. Watanabe, I. Imoto, Y. Kosugi, Y. Fukuda, J. Mimura, Y. Fujii, K. Isaka, M. Takayama, A. Sato and J. Inazawa. Human arylhydrocarbon receptor repressor (AHRR) gene: genomic structure and analysis of polymorphism in endometriosis. J Hum Genet 46, 342-346 (2001) (Pubitemid 32524632)
35. D. Lattuada, P. Viganò, E. Somigliana, M. P. Odorizzi, M. Vignali and A. M. Di Blasio: Androgen receptor gene cytosine, adenine, and guanine trinucleotide repeats in patients with endometriosis. J Soc Gynecol Investig 11, 237-240 (2004) (Pubitemid 38561369)
36. Y. Y. Hsieh, C. C. Chang, F. J. Tsai, J. Y. Wu, C. H. Tsai and H. D. Tsai: Androgen receptor trinucleotide polymorphism in endometriosis. Fertil Steril 76:412-3 (2001)
37. F. Wieser, R. Wenzl, C. Tempfer, C. Worda, J. Huber and C. Schneeberger: Catechol-O-methyltransferase polymorphism and endometriosis. J Assist Reprod Genet 19, 343-358 (2002)
38. A. Huber, C. C. Keck, L. A. Hefler, C. Schneeberger, J. C. Huber, E. K. Bentz, C. B. Tempfer: Ten estrogen-related polymorphisms and endometriosis: a study of multiple gene-gene interactions. Obstet Gynecol 106, 1025-1031 (2005) (Pubitemid 41532909)
39. S. H. Juo, T. N. Wang, J. N. Lee, M. T. Wu, C. Y. Long and E. M. Tsai: CYP17, CYP1A1 and COMT polymorphisms and the risk of adenomyosis and endometriosis in Taiwanese women. Hum Reprod 21, 1498-2502 (2006)
40. P. Vigano, D. Lattuada, E. Somigliana, A. Abbiati, M. Candiani and A. M. Di Blasio: Variants of the CTLA4 gene that segregate with autoimmune diseases are not associated with endometriosis. Mol Hum Reprod 11, 745-749 (2005) (Pubitemid 43205502)
41. N. Kado, J. Kitawaki, H. Obayashi, H. Ishihara, H. Koshiba, I. Kusuki, K. Tsukamoto, G. Hasegawa, N. Nakamura, T. Yoshikawa and H. Honjo: Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women. Hum Reprod 17, 897-902 (2002) (Pubitemid 34411118)
42. T. Asghar, S. Yoshida, S. Nakago, M. Morizane, N. Ohara, S. Motoyama, S. Kennedy, D. Barlow and T. Maruo: Lack of association between endometriosis and the CYP17 MspA1 polymorphism in UK and Japanese populations. Gynecol Endocrinol 20, 59-63 (2005) (Pubitemid 40604018)
43. K. A Babu, N. G. Reddy, M. Deendayal, S. Kennedy, S. Shivaji: GSTM1, GSTT1 and CYP1A1 detoxification gene polymorphisms and their relationship with advanced stages of endometriosis in South Indian women. Pharmacogenet Genomics 15, 167-172 (2005) (Pubitemid 40569903)
44. D. A. Arvanitis, G. E. Koumantakis, A. G. Goumenou, I. M. Matalliotakis, E. E. Koumantakis. D. A. Spandidos: CYP1A1, CYP19, and GSTM1 polymorphisms increase the risk of endometriosis. Fertil Steril 79, Suppl 1:702-709 (2003) (Pubitemid 36279673)
45. R. M. Hadfield, S. Manek, D. E. Weeks, H. J. Mardon, D. H. Barlow and S. H. Kennedy OXEGENE Collaborative Group: Linkage and association studies of the relationship between endometriosis and enes encoding the detoxification enzymes GSTM1, GSTT1 and CYP1A1. Mol Hum Reprod 7, 1073-1078 (2001) (Pubitemid 33040971)
46. Z. Wang, S. Yoshida, K. Negoro, S. Kennedy, D. Barlow and T. Maruo: 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 81, 1650-1656 (2004) (Pubitemid 38749012)
47. J. Kitawaki, H. Obayashi, H. Ishihara, H. Koshiba, I. Kusuki, N. Kado N, K. Tsukamoto, G. Hasegawa, N. Nakamura and H. Honjo: Oestrogen receptor-alpha gene polymorphism is associated with endometriosis, adenomyosis and leiomyomata. Hum Reprod 16, 51-55 (2001) (Pubitemid 32058578)
48. I. Georgiou, M. Syrrou, I. Bouba, N. Dalkalitsis, M. Paschopoulos, I. Navrozoglou and D. Lolis D: Association of estrogen receptor gene polymorphisms with endometriosis. Fertil Steril 72, 164-166 (1999) (Pubitemid 29300280)
49. S. Luisi, L. Galleri, F. Marini, G. Ambrosini, M. L. Brandi, F. Petraglia: Estrogen receptor gene polymorphisms are associated with recurrence of endometriosis. Fertil Steril 85, 764-766 (2006) (Pubitemid 43261583)
50. M. Seko, H. Takeuchi, K. Kinoshita and A. Tokita: Association of bone mineral density with vitamin D and estrogen receptor gene polymorphisms during GnRH agonist treatment. J Obstet Gynaecol Res 30, 130-135 (2004) (Pubitemid 38508628)
51. *C-related genotypes and alleles are associated with higher susceptibilities of endometriosis and leiomyoma. Mol Hum Reprod Nov. 22, (2006)
52. Y. Y. Hsieh, C. C. Chang, F. J. Tsai, C. C. Lin and C. H. Tsai: Estrogen receptor alpha dinucleotide repeat and cytochrome P450c17alpha gene polymorphisms are associated with susceptibility to endometriosis. Fertil Steril 83, 567-572 (2005)
53. H. Stefansson, A. Einarsdottir, R. T. Geirsson, K. Jonsdottir, G. Sverrisdottir, V. G. Gudnadottir, S. Gunnarsdottir, A. Manolescu, J. Gulcher and K. Stefansson. Endometriosis is not associated with or linked to the GALT gene. Fertil Steril 76, 1019-1022 (2001) (Pubitemid 33031331)
54. S. J. Morland, X. Jiang, A. Hitchcock, E. J. Thomas and I. G. Campbell: Mutation of galactose-1-phosphate uridyl transferase and its association with ovarian cancer and endometriosis. Int J Cancer 77, 825-827 (1998) (Pubitemid 28378127)
55. R. M. Hadfield, S. Manek, S. Nakago, S. Mukherjee, D. E. Weeks, H. J. Mardon, D. H. Barlow and S. H. Kennedy: Absence of a relationship between endometriosis and the N314D polymorphism of galactose-1-phosphate uridyl transferase in a UK population. Mol Hum Reprod 5, 990-993 (1999) (Pubitemid 29470326)
56. D. W. Cramer, M. D. Hornstein, W. G. Ng and R. L. Barbieri: Endometriosis associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT). Mol Hum Reprod 2, 149-152 (1996) (Pubitemid 126719014)
57. C. He, Y. Song, X. He, W. Zhang and L. Liao: No association of endometriosis with galactose-1-phosphate uridyl transferase mutations in a Chinese population. Environ Mol Mutagen 47, 307-309 (2006)
58. S. E. Hur, J. Y. Lee, H. S. Moon and H. W. Chung: Polymorphisms of the genes encoding the GSTM1, GSTT1 and GSTP1 in Korean women: no association with endometriosis. Mol Hum Reprod. 11, 15-19 (2005) (Pubitemid 40330998)
59. *null genotype but not myeloperoxidase promoter G-463A polymorphism is associated with higher susceptibility to endometriosis. Mol Hum Reprod 10, 713-717 (2004)
60. M. Morizane, S. Yoshida, S. Nakago, S. Hamana, T. Maruo and S. Kennedy: No association of endometriosis with glutathione S-transferase M1 and T1 null mutations in a Japanese population. J Soc Gynecol Investig 11, 118-121 (2004) (Pubitemid 38229740)
61. S. W. Baxter, E. J. Thomas and I. G. Campbell: GSTM1 null polymorphism and susceptibility to endometriosis and ovarian cancer. Carcinogenesis 22, 63-65 (2001) (Pubitemid 32098145)
62. J. Lin, X. Zhang, Y. Qian, Y. Ye, Y. Shi, K. Xu and J. Xu: Glutathione S-transferase M1 and T1 genotypes and endometriosis risk: a case-controlled study. Chin Med J (Engl) 116, 777-780 (2003) (Pubitemid 36701870)
63. H. Baranova, M. Canis, T. Ivaschenko, E. Albuisson, R. Bothorishvilli, V. Baranov, P. Malet and M. A. Bruhat: Possible involvement of arylamine N-acetyltransferase 2, glutathione S-transferases M1 and T1 genes in the development of endometriosis. Mol Hum Reprod 5, 636-641 (1999) (Pubitemid 29317753)
64. D. Ertunc, M. Aban, E. C. Tok, L. Tamer, M. Arslan and S. Dilek: Glutathione-S-transferase P1 gene polymorphism and susceptibility to endometriosis. Hum Reprod 20, 2157-2161 (2005) (Pubitemid 41418499)
65. P. Vigano, M. Infantino, D. Lattuada, R. Lauletta, E. Ponti, S. Somigliana, M. Vignali and A. M. Di Blasio: Intercellular adhesion molecule-1 (ICAM-1) gene polymorphisms in endometriosis. Mol Hum Reprod 9, 47-52 (2003) (Pubitemid 36285143)
66. M. Yamashita, S. Yoshida, S. Kennedy, N. Ohara, S. Motoyama and T. Maruo: Association study of endometriosis and intercellular adhesion molecule-1 (ICAM-1) gene polymorphisms in a Japanese population. J Soc Gynecol Investig 12, 267-271 (2005) (Pubitemid 40615097)
67. J. Kitawaki, M. Kiyomizu, H. Obayashi, M. Ohta, H. Ishihara, G. Hasegawa, N. Nakamura, T. Yoshikawa and H. Honjo: 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. Am J Reprod Immunol 56, 267-274 (2006) (Pubitemid 44288656)
68. J. Kitawaki, H. Koshiba, Y. Kitaoka, M. Teramoto, G. Hasegawa, N. Nakamura, T. Yoshikawa, M. Ohta, H. Obayashi and H. Honjo: Interferon-gamma gene dinucleotide (CA) repeat and interleukin-4 promoter region (-590C/T) polymorphisms in Japanese patients with endometriosis. Hum Reprod 19, 1765-1769 (2004) (Pubitemid 39144619)
69. F. Wieser, L. Hefler, C. Tempfer, U. Vlach, C. Schneeberger, J. Huber and R. Wenzl: Polymorphism of the interleukin-1beta gene and endometriosis. J Soc Gynecol Investig 10, 172-175 (2003)
70. Y. Y. Hsieh, C. C. Chang, F. J. Tsai, J. Y. Wu, Y. R. Shi, H. D. Tsai and C. H. Tsai: Polymorphisms for interleukin-1 beta (IL-1 beta)-511 promoter, IL-1 beta exon 5, and IL-1 receptor antagonist: nonassociation with endometriosis. Assist Reprod Genet 18, 506-511 (2001)
71. Y. Y. Hsieh, C. C. Chang, F. J. Tsai, Y. Hsu, H. D. Tsai and C. H. Tsai: Polymorphisms for interleukin-4 (IL-4)-590 promoter, IL-4 intron3, and tumor necrosis factor alpha - 308 promoter: non-association with endometriosis. Clin Lab Anal 16, 121-126 (2002) (Pubitemid 34492362)
72. M. Bhanoori, K. A. Babu, M. Deenadayal, S. Kennedy and S. Shivaji S: The interleukin-6-174G/C promoter polymorphism is not associated with endometriosis in South Indian women. J Soc Gynecol Investig 12, 365-369 (2005) (Pubitemid 40848461)
73. F. Wieser, G. Fabjani, C. Tempfer, C. Schneeberger, M. Sator, J. Huber and R. Wenzl: Analysis of an interleukin-6 gene promoter polymorphism in women with endometriosis by pyrosequencing. J Soc Gynecol Investig 10, 32-36 (2003) (Pubitemid 36051096)
74. J. Kitawaki, H. Obayashi, M. Ohta, N. Kado, H. Ishihara, H. Koshiba, I. Kusuki, K. Tsukamoto, G. Hasegawa, N. Nakamura, T. Yoshikawa and H. Honjo: Genetic contribution of the interleukin-10 promoter polymorphism in endometriosis susceptibility. Am J Reprod Immunol 47, 12-18 (2002) (Pubitemid 34552369)
75. Y. Y. Hsieh, C. C. Chang, F. J. Tsai, Y. C. C. Lin, C. T. Tai and H. Ho: Association of an A allele for interleukin-10-627 gene promoter polymorphism with higher susceptibility to endometriosis. J Reprod Med 48, 735-738 (2003)
76. K. Shan, W. Ying, Z. Jian-Hui, G. Wei, W. Na and L. Yan: The function of the SNP in the MMP1 and MMP3 promoter in susceptibility to endometriosis in China. Mol Hum Reprod 11, 423-427 (2005) (Pubitemid 41418066)
77. M. M. Ferrari, M. L. Biondi, G. Rossi, B. Grijuela, S. Gaita, G. Perugino and P. Vigano: Analysis of two polymorphisms in the promoter region of matrix metalloproteinase 1 and 3 genes in women with endometriosis. Acta Obstet Gynecol Scand 85, 212-217 (2006) (Pubitemid 43879245)
78. M. Deguchi, S. Yoshida, S. Kennedy, N. Ohara, S. Motoyama and T. Maruo: Lack of association between endometriosis and N-acetyl transferase 1 (NAT1) and 2 (NAT2) polymorphisms in a Japanese population. J Soc Gynecol Investig 12, 208-213 (2005) (Pubitemid 40387816)
79. K. A. Babu, K. L. Rao, N. G. Reddy, M. K. Kanakavalli, K. T. Zondervan, M. Deenadayal, S. Singh, S. Shivaji and S. Kennedy: N-acetyl transferase 2 polymorphism and advanced stages of endometriosis in South Indian women. Reprod Biomed Online 9, 533-540 (2004) (Pubitemid 39517500)
80. S. Nakago, R. M. Hadfield, K. T. Zondervan, H. Mardon, S. Manek, D. E. Weeks, D. Barlow and S. Kennedy: Association between endometriosis and N-acetyl transferase 2 polymorphisms in a UK population. Mol Hum Reprod 7, 1079-1083 (2001) (Pubitemid 33048780)
81. S. Dogan, F. Machicao, D. Wallwiener, H. U. Haering, K. Diedrich and D. Hornung: Association of peroxisome proliferator-activated receptor gamma 2 Pro-12-Ala polymorphism with endometriosis. Fertil Steril 81, 1411-1413 (2004) (Pubitemid 38609335)
82. M. Kiyomizu, J. Kitawaki, H. Obayashi, M. Ohta, H. Koshiba, H. Ishihara and H. Honjo: Association of two polymorphisms in the peroxisome proliferator-activated receptor-gamma gene with adenomyosis, endometriosis, and leiomyomata in Japanese women. J Soc Gynecol Investig 13, 372-377 (2006) (Pubitemid 43928658)
83. D. Lattuada, E. Somigliana, P. Vigano, M. Candiani, G. Pardi and A. M. Di Blasio: Genetics of endometriosis: a role for the progesterone receptor gene polymorphism PROGINS? Clin Endocrinol (Oxf) 61, 190-194 (2004) (Pubitemid 39093113)
84. F. Wieser, C. Schneeberger, D. Tong, C. Tempfer, J. C. Huber and R. Wenzl: PROGINS receptor gene polymorphism is associated with endometriosis Fertil Steril 77, 309-312 (2002) (Pubitemid 34083553)
85. A. Berchuck, J. M. Schildkraut, R. M. Wenham, B. Calingaert, S. Ali, A. Henriott, S. Halabi, G. C. Rodriguez, D. Gertig, D. M. Purdie, L. Kelemen, A. B. Spurdle, J. Marks and G. Chenevix-Trench: Progesterone receptor promoter +331A polymorphism is associated with a reduced risk of endometrioid and clear cell ovarian cancers. Cancer Epidemiol Biomarkers Prev 13, 2141-2147 (2004) (Pubitemid 40054309)
86. K. J. van Kaam, A. Romano, J. P. Schouten, G. A. Dunselman and P. G. Groothuis PG. Progesterone receptor polymorphism +331G/A is associated with a decreased risk of deep infiltrating endometriosis. Hum Reprod Aug. 18, (2006)
87. G. Antinolo, R. M. Fernandez, J. A. Noval, J. C. Garcia-Lozano, S. Borrego, I. Marcos and J. L. Molini. Evaluation of germline sequence variants within the promoter region of RANTES gene in a cohort of women with endometriosis from Spain. Mol Hum Reprod 9, 491-495 (2003) (Pubitemid 36874307)
88. M. Teramoto, J. Kitawaki, H. Koshiba, Y. Kitaoka, H. Obayashi, G. Hasegawa, N. Nakamura, T. Yoshikawa, M. Matsushita, E. Maruya, H. Saji, M. Ohta and H. Honjo: Genetic contribution of tumor necrosis factor (TNF)-alpha gene promoter (-1031,-863 and-857) and TNF receptor 2 gene polymorphisms in endometriosis susceptibility. Am J Reprod Immunol 51, 352-357 (2004) (Pubitemid 38765269)
89. T. Asghar, S. Yoshida, S. Kennedy, K. Negoro, W. Zhuo, S. Hamana, S. Motoyama, S. Nakago, D. Barlow and T. Maruo: The tumor necrosis factor-alpha promoter - 1031C polymorphism is associated with decreased risk of endometriosis in a Japanese population. Hum Reprod 19, 2509-2514 (2004) (Pubitemid 39481275)
90. F. Wieser, G. Fabjani, C. Tempfer, C. Schneeberger, R. Zeillinger, J. C. Huber and R. Wenzl: Tumor necrosis factor-alpha promotor polymorphisms and endometriosis. J Soc Gynecol Investig 9, 313-318 (2002) (Pubitemid 35292301)
91. D. Lattuada, P. Viganò, E. Somigliana, A. Abbiati, M. Candiani and A. M Di Blasio: Analysis of the codon 72 polymorphism of the TP53 gene in patients with endometriosis. Mol Hum Reprod 10, 651-654 (2004) (Pubitemid 39341585)
92. Y. Y. Hsieh and C. S. Lin: P53 codon 11, 72, and 248 gene polymorphisms in endometriosis. Int J Biol Sci 2, 188-193 (2006)
93. S. Omori, S. Yoshida, S. H. Kennedy, K. Negoro, S. Hamana, D. H. Barlow and T. Maruo: Polymorphism at codon 72 of the p53 gene is not associated with endometriosis in a Japanese population. J Soc Gynecol Investig 11, 232-236 (2004) (Pubitemid 38561368)
94. S. H. Kim, Y. M. Choi, S. H. Choung, J. K. Jun, J. G. Kim and S. Y. Moon: Vascular endothelial growth factor gene +405 C/G polymorphism is associated with susceptibility to advanced stage endometriosis. Hum Reprod 20, 2904-2908 (2005) (Pubitemid 41487650)
95. M. Bhanoori, K. Arvind Babu, N. G. Pavankumar Reddy, K. Lakshmi Rao, K. Zondervan, M. Deenadayal, S. Kennedy and S. Shivaji: The vascular endothelial growth factor (VEGF) +405G7gt;C 5'-untranslated region polymorphism and increased risk of endometriosis in South Indian women: a case control study. Hum Reprod 20, 1844-1849 (2005) (Pubitemid 40932366)
96. Y. Y. Hsieh, C. C. Chang, F. J. Tsai, L. S. Yeh, C. C. Lin and C. T. Peng: T allele for VEGF gene-460 polymorphism at the 5'-untranslated region: association with a higher susceptibility to endometriosis. J Reprod Med 49, 468-472 (2004)