The genetics and biochemistry of endometriosis

Current Opinion in Obstetrics and Gynecology

Volumn 25, Issue 4, 2013, Pages 280-286

  Burney, Richard O ^a  

^a Madigan Healthcare System   (United States)

Author keywords

biomarker; endometriosis; genetic; inflammation; progesterone

Indexed keywords

CABERGOLINE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR AGONIST; PROGESTERONE;

ANGIOGENESIS; BIOCHEMISTRY; DIAGNOSTIC TEST ACCURACY STUDY; EARLY DIAGNOSIS; ENDOMETRIOSIS; ENDOMETRIUM; FEMALE INFERTILITY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; HORMONE ACTION; HUMAN; INFLAMMATION; LINKAGE ANALYSIS; MASS SPECTROMETRY; NONHUMAN; PAIN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEOMICS; REVIEW; SENSITIVITY AND SPECIFICITY; TRANSLATIONAL RESEARCH;

APOPTOSIS; BIOLOGICAL MARKERS; ENDOMETRIOSIS; ENDOMETRIUM; FEMALE; GENE EXPRESSION REGULATION; HUMANS; INFERTILITY, FEMALE; INFLAMMATION; PROGESTERONE; RISK;

EID: 84880796731     PISSN: 1040872X     EISSN: 1473656X     Source Type: Journal    
DOI: 10.1097/GCO.0b013e3283630d56     Document Type: Review

References (75)

1. Eskenazi B, Warner ML. Epidemiology of endometriosis. Obstet Gynecol Clin North Am 1997; 24:235-258.
2. Sampson JA. Peritoneal endometriosis due to menstrual dissemination of endometrial tissue into the peritoneal cavity. Am J Obstet Gynecol 1927; 14:442-469.
3. Halme J, Hammond MG, Hulka JF, et al. Retrograde menstruation in healthy women and in patients with endometriosis. Obstet Gynecol 1984; 64:151-154.
4. Burney RO, Giudice LC. Pathogenesis and pathophysiology of endometriosis. Fertil Steril 2012; 98:511-519.
5. Burney RO, Lathi RB. Menstrual bleeding from an endometriotic lesion. Fertil Steril 2009; 91:1926-1927.
6. Gardner GH, Greene RR, Ranney B. The histogenesis of endometriosis; recent contributions. Obstet Gynecol 1953; 1:615-637.
7. Simpson JL, Elias S, Malinak LR, Buttram VC Jr. Heritable aspects of endometriosis. I. Genetic studies. Am J Obstet Gynecol 1980; 137:327-331.
8. Hadfield RM, Mardon HJ, Barlow DH, Kennedy SH. Endometriosis in monozygotic twins. Fertil Steril 1997; 68:941-942.
9. Treloar SA, O'Connor DT, O'Connor VM, Martin NG. Genetic influences on endometriosis in an Australian twin sample. sueT@qimr.edu.au. Fertil Steril 1999; 71:701-710.
10. Zondervan KT, Weeks DE, Colman R, et al. Familial aggregation of endometriosis in a large pedigree of rhesus macaques. Hum Reprod 2004; 19:448-455.
11. Hall JM, Lee MK, Newman B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990; 250:1684-1689.
12. Treloar SA, Wicks J, Nyholt DR, et al. Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26. Am J Hum Genet 2005; 77:365-376.
13. Zondervan KT, Treolar SA, Lin J, et al. Significant evidence of one or more susceptibility loci for endometriosis with near-Mendelian inheritance on chromosome 7p13-15. Hum Reprod 2007; 22:717-728.
14. Montgomery GW, Nyholt DR, Zhao ZZ, et al. The search for genes contributing to endometriosis risk. Hum Reprod Update 2008; 14:447-457.
15. Uno S, Zembutsu H, Hirasawa A, et al. A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated. Nat Genet 2010; 42:707-710.
16. Wu Y, Strawn E, Basir Z, et al. Genomic alterations in ectopic and eutopic endometria of women with endometriosis. Gynecol Obstet Invest 2006; 62:148-159.
17. Nyholt DR, Low SK, Anderson CA, et al. Genome-wide association metaanalysis identifies new endometriosis risk loci. Nat Genet 2012; 44:1355-1359.
18. Painter JN, Anderson CA, Nyholt DR, et al. Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis. Nat Genet 2011; 43:51-54.
19. Sundqvist J, Xu H, Vodolazkaia A, et al. Replication of endometriosisassociated single-nucleotide polymorphisms from genome-wide association studies in a Caucasian population. Hum Reprod 2013; 28:835-839.
20. Burney RO, Talbi S, Hamilton AE, et al. Gene expression analysis of endometrium reveals progesterone resistance and candidate susceptibility genes in women with endometriosis. Endocrinology 2007; 148:3814-3826.
21. Matsuzaki S, Canis M, Vaurs-Barriere C, et al. DNA microarray analysis of gene expression in eutopic endometrium from patients with deep endometriosis using laser capture microdissection. Fertil Steril 2005; 84 (Suppl 2): 1180-1190.
22. Kao LC, Germeyer A, Tulac S, et al. Expression profiling of endometrium from women with endometriosis reveals candidate genes for disease-based implantation failure and infertility. Endocrinology 2003; 144:2870-2881.
23. Sherwin JR, Sharkey AM, Mihalyi A, et al. Global gene analysis of late secretory phase, eutopic endometrium does not provide the basis for a minimally invasive test of endometriosis. Hum Reprod 2008; 23:1063-1068.
24. May KE, Villar J, Kirtley S, et al. Endometrial alterations in endometriosis: a systematic review of putative biomarkers. Hum Reprod Update 2011; 17:637-653.
25. Eyster KM, Klinkova O, Kennedy V, Hansen KA. Whole genome deoxyribonucleic acid microarray analysis of gene expression in ectopic versus eutopic endometrium. Fertil Steril 2007; 88:1505-1533.
26. Monsivais D, Bray JD, Su E, et al. Activated glucocorticoid and eicosanoid pathways in endometriosis. Fertil Steril 2012; 98:117-125.
27. Lousse JC, Defrere S, Van Langendonckt A, et al. Iron storage is significantly increased in peritoneal macrophages of endometriosis patients and correlates with iron overload in peritoneal fluid. Fertil Steril 2009; 91:1668-1675.
28. Gupta S, Agarwal A, Krajcir N, Alvarez JG. Role of oxidative stress in endometriosis. Reprod Biomed Online 2006; 13:126-134.
29. Guo SW. Nuclear factor-kappab (NF-kappaB): an unsuspected major culprit in the pathogenesis of endometriosis that is still at large? Gynecol Obstet Invest 2007; 63:71-97.
30. Gonzalez-Ramos R, Donnez J, Defrere S, et al. Nuclear factor-kappa B is constitutively activated in peritoneal endometriosis. Mol Hum Reprod 2007; 13:503-509.
31. Perkins ND. Integrating cell-signalling pathways with NF-kappaB and IKK function. Nat Rev Mol Cell Biol 2007; 8:49-62.
32. Horie S, Harada T, Mitsunari M, et al. Progesterone and progestational compounds attenuate tumor necrosis factor alpha-induced interleukin-8 production via nuclear factor kappa B inactivation in endometriotic stromal cells. Fertil Steril 2005; 83:1530-1535.
33. Gonzalez-Ramos R, Rocco J, Rojas C, et al. Physiologic activation of nuclear factor kappa-B in the endometrium during the menstrual cycle is altered in endometriosis patients. Fertil Steril 2012; 97:645-651.
34. Filicori M, Butler JP, Crowley WF Jr. Neuroendocrine regulation of the corpus luteum in the human. Evidence for pulsatile progesterone secretion. J Clin Invest 1984; 73:1638-1647.
35. Brosens IA, Koninckx PR, Corveleyn PA. A study of plasma progesterone, oestradiol-17beta, prolactin and LH levels, and of the luteal phase appearance of the ovaries in patients with endometriosis and infertility. Br J Obstet Gynaecol 1978; 85:246-250.
36. Williams CA, Oak MK, Elstein M. Cyclical gonadotrophin and progesterone secretion in women with minimal endometriosis. Clin Reprod Fertil 1986; 4:259-268.
37. Harlow CR, Cahill DJ, Maile LA, et al. Reduced preovulatory granulosa cell steroidogenesis in women with endometriosis. J Clin Endocrinol Metab 1996; 81:426-429.
38. Aghajanova L, Hamilton A, Kwintkiewicz J, et al. Steroidogenic enzyme and key decidualization marker dysregulation in endometrial stromal cells from women with versus without endometriosis. Biol Reprod 2009; 80:105-114.
39. Attia GR, Zeitoun K, Edwards D, et al. Progesterone receptor isoform A but not B is expressed in endometriosis. J Clin Endocrinol Metab 2000; 85:2897-2902.
40. Igarashi TM, Bruner-Tran KL, Yeaman GR, et al. Reduced expression of progesterone receptor-B in the endometrium of women with endometriosis and in cocultures of endometrial cells exposed to 2,3,7,8-tetrachlorodibenzop- dioxin. Fertil Steril 2005; 84:67-74.
41. Wu Y, Strawn E, Basir Z, et al. Promoter hypermethylation of progesterone receptor isoform B (PR-B) in endometriosis. Epigenetics 2006; 1:106-111.
42. Aghajanova L, Velarde MC, Giudice LC. The progesterone receptor coactivator Hic-5 is involved in the pathophysiology of endometriosis. Endocrinology 2009; 150:3863-3870.
43. Pabona JM, Simmen FA, Nikiforov MA, et al. Kruppel-like factor 9 and progesterone receptor coregulation of decidualizing endometrial stromal cells: implications for the pathogenesis of endometriosis. J Clin Endocrinol Metab 2012; 97:E376-E392.
44. Prapas Y, Goudakou M, Matalliotakis I, et al. History of endometriosis may adversely affect the outcome in menopausal recipients of sibling oocytes. Reprod Biomed Online 2012; 25:543-548.
45. Hull ML, Charnock-Jones DS, Chan CL, et al. Antiangiogenic agents are effective inhibitors of endometriosis. J Clin Endocrinol Metab 2003; 88:2889-2899.
46. Weinstein BM. Vessels and nerves: marching to the same tune. Cell 2005; 120:299-302.
47. Berkley KJ, Rapkin AJ, Papka RE. The pains of endometriosis. Science 2005; 308:1587-1589.
48. Tokushige N, Markham R, Russell P, Fraser IS. High density of small nerve fibres in the functional layer of the endometrium in women with endometriosis. Hum Reprod 2006; 21:782-787.
49. Tokushige N, Markham R, Russell P, Fraser IS. Nerve fibres in peritoneal endometriosis. Hum Reprod 2006; 21:3001-3007.
50. Bokor A, Kyama CM, Vercruysse L, et al. Density of small diameter sensory nerve fibres in endometrium: a semi-invasive diagnostic test for minimal to mild endometriosis. Hum Reprod 2009; 24:3025-3032.
51. McKinnon B, Bersinger NA, Wotzkow C, Mueller MD. Endometriosis-associated nerve fibers, peritoneal fluid cytokine concentrations, and pain in endometriotic lesions from different locations. Fertil Steril 2012; 97:373-380.
52. Stratton P, Berkley KJ. Chronic pelvic pain and endometriosis: translational evidence of the relationship and implications. Hum Reprod Update 2011; 17:327-346.
53. McAllister SL, Dmitrieva N, Berkley KJ. Sprouted innervation into uterine transplants contributes to the development of hyperalgesia in a rat model of endometriosis. PLoS One 2012; 7:e31758.
54. Alvarez P, Chen X, Hendrich J, et al. Ectopic uterine tissue as a chronic pain generator. Neuroscience 2012; 225:269-282.
55. Kennedy S, Bergqvist A, Chapron C, et al. ESHRE guideline for the diagnosis and treatment of endometriosis. Hum Reprod 2005; 20:2698-2704.
56. Nnoaham KE, Hummelshoj L, Webster P, et al. Impact of endometriosis on quality of life and work productivity: a multicenter study across ten countries. Fertil Steril 2011; 96:366-373; e8.
57. D'Hooghe TM, Debrock S. Endometriosis, retrograde menstruation and peritoneal inflammation in women and in baboons. Hum Reprod Update 2002; 8:84-88.
58. Rogers PA, D'Hooghe TM, Fazleabas A, et al. Priorities for endometriosis research: recommendations from an international consensus workshop. Reprod Sci 2009; 16:335-346.
59. Al-Jefout M, Dezarnaulds G, Cooper M, et al. Diagnosis of endometriosis by detection of nerve fibres in an endometrial biopsy: a double blind study. Hum Reprod 2009; 24:3019-3024.
60. Leslie C, Ma T, McElhinney B, et al. Is the detection of endometrial nerve fibers useful in the diagnosis of endometriosis? Int J Gynecol Pathol 2013; 32:149-155.
61. Fassbender A, Simsa P, Kyama CM, et al. TRIzol treatment of secretory phase endometrium allows combined proteomic and mRNA microarray analysis of the same sample in women with and without endometriosis. Reprod Biol Endocrinol 2010; 8:123.
62. Ding X, Wang L, Ren Y, Zheng W. Detection of mitochondrial biomarkers in eutopic endometria of endometriosis using surface-enhanced laser desorption/ ionization time-of-flight mass spectrometry. Fertil Steril 2010; 94:2528-2530.
63. Fassbender A, Verbeeck N, Bornigen D, et al. Combined mRNA microarray and proteomic analysis of eutopic endometrium of women with and without endometriosis. Hum Reprod 2012; 27:2020-2029.
64. Kyama CM, Mihalyi A, Gevaert O, et al. Evaluation of endometrial biomarkers for semi-invasive diagnosis of endometriosis. Fertil Steril 2011; 95:1338-1343; e1-e3.
65. Wang L, Zheng W, Ding XY, et al. Identification biomarkers of eutopic endometrium in endometriosis using artificial neural networks and protein fingerprinting. Fertil Steril 2010; 93:2460-2462.
66. El-Kasti MM, Wright C, Fye HK, et al. Urinary peptide profiling identifies a panel of putative biomarkers for diagnosing and staging endometriosis. Fertil Steril 2011; 95:1261-1266; e1-e6.
67. Tokushige N, Markham R, Crossett B, et al. Discovery of a novel biomarker in the urine in women with endometriosis. Fertil Steril 2011; 95:46-49.
68. Marchino GL,Gennarelli G, Enria R, et al. Diagnosis of pelvic endometriosis with use of macroscopic versus histologic findings. Fertil Steril 2005; 84:12-15.
69. Sheldon E, Vo KC, McIntire RA, et al. Biobanking human endometrial tissue and blood specimens: standard operating procedure and importance to reproductive biology research and diagnostic development. Fertil Steril 2011; 95:2120-2122; 2 e1-e12.
70. Fassbender A, Vodolazkaia A, Saunders P, et al. Biomarkers of endometriosis. Fertil Steril 2013; 99:1135-1145.
71. Soares SR, Martinez-Varea A, Hidalgo-Mora JJ, Pellicer A. Pharmacologic therapies inendometriosis: a systematic review.FertilSteril2012;98:529-555.
72. Celik O, Hascalik S, Elter K, et al. Combating endometriosis by blocking proteasome and nuclear factor-kappaB pathways. Hum Reprod 2008; 23:2458-2465.
73. Yilmaz B, Ozat M, Kilic S, et al. Atorvastatin causes regression of endometriotic implants in a rat model. Reprod Biomed Online 2010; 20:291-299.
74. Olivares C, Ricci A, Bilotas M, et al. The inhibitory effect of celecoxib and rosiglitazone on experimental endometriosis. Fertil Steril 2011; 96:428-433.
75. Delgado-Rosas F, Gomez R, Ferrero H, et al. The effects of ergot and nonergot-derived dopamine agonists in an experimental mouse model of endometriosis. Reproduction 2011; 142:745-755.