Advances in the genetics of endometriosis

Genome Medicine

Volumn 2, Issue 10, 2010, Pages

  Dun, Erica C ^a   Taylor, Robert N ^a   Wieser, Fritz ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLTRANSFERASE; AROMATASE; CYCLIN DEPENDENT KINASE INHIBITOR 2B; CYTOCHROME P450 17; CYTOCHROME P450 1A1; ESTROGEN RECEPTOR ALPHA; GLUTATHIONE TRANSFERASE; GLUTATHIONE TRANSFERASE M1; GLUTATHIONE TRANSFERASE T1; HLA DR ANTIGEN; INTERCELLULAR ADHESION MOLECULE 1; INTERLEUKIN 10; INTERLEUKIN 1BETA; INTERLEUKIN 2 RECEPTOR BETA; INTERLEUKIN 6; PROGESTERONE RECEPTOR; PROTEIN P53; TRANSCRIPTION FACTOR EMX2; TUMOR NECROSIS FACTOR ALPHA; VASCULOTROPIN A;

ENDOMETRIOSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENETICS; HUMAN; MONOZYGOTIC TWINS; PRIORITY JOURNAL; RELATIVE; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 78751691572     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm196     Document Type: Review

References (70)

1. Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, Wortman JR, Zhang Q, Kodira CD, Zheng XH, Chen L, Skupski M, Subramanian G, Thomas PD, Zhang J, Gabor Miklos GL, Nelson C, Broder S, Clark AG, Nadeau J, McKusick VA, Zinder N, et al. The sequence of the human genome. Science 2001, 291:1304-1351. 10.1126/science.1058040, 11181995.
2. Simpson JL, Elias S, Malinak LR, Buttram VC. Heritable aspects of endometriosis. I. Genetic studies. Am J Obstet Gynecol 1980, 137:327-331.
3. Lamb K, Hoffmann RG, Nichols TR. Family trait analysis: a case-control study of 43 women with endometriosis and their best friends. Am J Obstet Gynecol 1986, 154:596-601.
4. Giudice LC, Kao LC. Endometriosis. Lancet 2004, 364:1789-1799. 10.1016/S0140-6736(04)17403-5, 15541453.
5. Barnhart K, Dunsmoor-Su R, Coutifaris C. Effect of endometriosis on in vitro fertilization. Fertil Steril 2002, 77:1148-1155. 10.1016/S0015-0282(02)03112-6, 12057720.
6. Revised American Society for Reproductive Medicine classification of endometriosis 1996. Fertil Steril 1997, 67:817-821. 10.1016/S0015-0282(97)81391-X, 9130884.
7. Simoens S, Hummelshoj L, D'Hooghe T. Endometriosis: cost estimates and methodological perspective. Hum Reprod Update 2007, 13:395-404. 10.1093/humupd/dmm010, 17584822.
8. Sinaii N, Cleary SD, Younes N, Ballweg ML, Stratton P. Treatment utilization for endometriosis symptoms: a cross-sectional survey study of lifetime experience. Fertil Steril 2007, 87:1277-1286. 10.1016/j.fertnstert.2006.11.051, 17296195.
9. Frey GH. The familial occurrence of endometriosis; report of five instances and review of the literature. Am J Obstet Gynecol 1957, 73:418-421.
10. Gardiner GH, Greene RR, Ranney B. The histogenesis of endometriosis; recent contributions. Obstet Gynecol 1953, 1:615.
11. Ranney B. Endometriosis. IV. Hereditary tendency. Obstet Gynecol 1971, 37:734-737.
12. Malinak LR, Buttram VC, Elias S, Simpson JL. Heritage aspects of endometriosis. II. Clinical characteristics of familial endometriosis. Am J Obstet Gynecol 1980, 137:332-337.
13. Coxhead D, Thomas EJ. Familial inheritance of endometriosis in a British population: a case-control study. J Obstet Gynecol 1993, 13:42-44.
14. Moen MH, Magnus P. The familial risk of endometriosis. Acta Obstet Gynecol Scand 1993, 72:560-564. 10.3109/00016349309058164, 8213105.
15. Stefansson H, Geirsson RT, Steinthorsdottir V, Jonsson H, Manolescu A, Kong A, Ingadottir G, Gulcher J, Stefansson K. Genetic factors contribute to the risk of developing endometriosis. Hum Reprod 2002, 17:555-559. 10.1093/humrep/17.3.555, 11870102.
16. Moen MH, Schei B. Epidemiology of endometriosis in a Norwegian county. Acta Obstet Gynecol Scand 1997, 76:559-562. 10.3109/00016349709024584, 9246963.
17. Hadfield RM, Mardon HJ, Barlow DH, Kennedy SH. Endometriosis in monozygotic twins. Fertil Steril 1997, 68:941-942. 10.1016/S0015-0282(97)00359-2, 9389831.
18. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D, et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 1994, 265:2088-2090. 10.1126/science.8091231, 8091231.
19. Hall NR, Fish DE, Hunt N, Goldin RD, Guillou PJ, Monson JR. Is the relationship between angiogenesis and metastasis in breast cancer real?. Surg Oncol 1992, 1:223-229. 10.1016/0960-7404(92)90068-V, 1285217.
20. Treloar SA, Wicks J, Nyholt DR, Montgomery GW, Bahlo M, Smith V, Dawson G, Mackay IJ, Weeks DE, Bennett ST, Carey A, Ewen-White KR, Duffy DL, O'Connor DT, Barlow DH, Martin NG, Kennedy SH. 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. 10.1086/432960, 1226203, 16080113.
21. Daftary GS, Taylor HS. EMX2 gene expression in the female reproductive tract and aberrant expression in the endometrium of patients with endometriosis. J Clin Endocrinol Metab 2004, 89:2390-2396. 10.1210/jc.2003-031389, 15126568.
22. Du H, Taylor HS. Molecular regulation of mullerian development by Hox genes. Ann N Y Acad Sci 2004, 1034:152-165. 10.1196/annals.1335.018, 15731308.
23. Treloar SA, Zhao ZZ, Le L, Zondervan KT, Martin NG, Kennedy S, Nyholt DR, Montgomery GW. Variants in EMX2 and PTEN do not contribute to risk of endometriosis. Mol Hum Reprod 2007, 13:587-594. 10.1093/molehr/gam023, 17563403.
24. Kennedy S. Genetics of endometriosis: a review of the positional cloning approaches. Semin Reprod Med 2003, 21:111-118. 10.1055/s-2003-41317, 12917780.
25. Taylor RN, Lebovic DI. Endometriosis. Yen and Jaffe's Reproductive Endcrinology 2009, 577-596. Philadelphia: Saunders Elsevier, Barbieri S, 6.
26. Bulun SE, Cheng YH, Pavone ME, Xue Q, Attar E, Trukhacheva E, Tokunaga H, Utsunomiya H, Yin P, Luo X, Lin Z, Imir G, Thung S, Su EJ, Kim JJ. Estrogen receptor-beta, estrogen receptor-alpha, and progesterone resistance in endometriosis. Semin Reprod Med 2010, 28:36-43. 10.1055/s-0029-1242991, 20104427.
27. Fang Z, Yang S, Lydon JP, DeMayo F, Tamura M, Gurates B, Bulun SE. Intact progesterone receptors are essential to counteract the proliferative effect of estradiol in a genetically engineered mouse model of endometriosis. Fertil Steril 2004, 82:673-678. 10.1016/j.fertnstert.2004.01.048, 15374713.
28. Aghajanova L, Velarde MC, Giudice LC. The progesterone receptor coactivator Hic-5 is involved in the pathophysiology of endometriosis. Endocrinology 2009, 150:3863-3870. 10.1210/en.2009-0008, 2717860, 19389829.
29. Burney RO, Talbi S, Hamilton AE, Vo KC, Nyegaard M, Nezhat CR, Lessey BA, Giudice LC. Gene expression analysis of endometrium reveals progesterone resistance and candidate susceptibility genes in women with endometriosis. Endocrinology 2007, 148:3814-3826. 10.1210/en.2006-1692, 17510236.
30. Kitawaki J, Obayashi H, Ishihara H, Koshiba H, Kusuki I, Kado N, Tsukamoto K, Hasegawa G, Nakamura N, Honjo H. Oestrogen receptor-alpha gene polymorphism is associated with endometriosis, adenomyosis and leiomyomata. Hum Reprod 2001, 16:51-55. 10.1093/humrep/16.1.51, 11139535.
31. Georgiou I, Syrrou M, Bouba I, Dalkalitsis N, Paschopoulos M, Navrozoglou I, Lolis D. Association of estrogen receptor gene polymorphisms with endometriosis. Fertil Steril 1999, 72:164-166. 10.1016/S0015-0282(99)00198-3, 10428168.
32. Luisi S, Galleri L, Marini F, Ambrosini G, Brandi ML, Petraglia F. Estrogen receptor gene polymorphisms are associated with recurrence of endometriosis. Fertil Steril 2006, 85:764-766. 10.1016/j.fertnstert.2005.08.038, 16500359.
33. Renner SP, Strick R, Oppelt P, Fasching PA, Engel S, Baumann R, Beckmann MW, Strissel PL. Evaluation of clinical parameters and estrogen receptor alpha gene polymorphisms for patients with endometriosis. Reproduction 2006, 131:153-161. 10.1530/rep.1.00787, 16388018.
34. Huber A, Keck CC, Hefler LA, Schneeberger C, Huber JC, Bentz EK, Tempfer CB. Ten estrogen-related polymorphisms and endometriosis: a study of multiple gene-gene interactions. Obstet Gynecol 2005, 106:1025-1031.
35. Govindan S, Ahmad SN, Vedicherla B, Kodati V, Jahan P, Rao KP, Ahuja YR, Hasan Q. Association of progesterone receptor gene polymorphism (PROGINS) with endometriosis, uterine fibroids and breast cancer. Cancer Biomark 2007, 3:73-78.
36. Lattuada D, Somigliana E, Vigano P, Candiani M, Pardi G, Di Blasio AM. Genetics of endometriosis: a role for the progesterone receptor gene polymorphism PROGINS?. Clin Endocrinol (Oxf) 2004, 61:190-194. 10.1111/j.1365-2265.2004.02076.x, 15272913.
37. De Carvalho CV, Nogueira-De-Souza NC, Costa AM, Baracat EC, Girao MJ, D'Amora P, Schor E, da Silva ID. Genetic polymorphisms of cytochrome P450cl7alpha (CYP17) and progesterone receptor genes (PROGINS) in the assessment of endometriosis risk. Gynecol Endocrinol 2007, 23:29-33. 10.1080/09513590601024707, 17484509.
38. Wieser F, Schneeberger C, Tong D, Tempfer C, Huber JC, Wenzl R. PROGINS receptor gene polymorphism is associated with endometriosis. Fertil Steril 2002, 77:309-312. 10.1016/S0015-0282(01)02984-3, 11821088.
39. Treloar SA, Zhao ZZ, Armitage T, Duffy DL, Wicks J, O'Connor DT, Martin NG, Montgomery GW. Association between polymorphisms in the progesterone receptor gene and endometriosis. Mol Hum Reprod 2005, 11:641-647. 10.1093/molehr/gah221, 16126772.
40. Lebovic DI, Mueller MD, Taylor RN. Immunobiology of endometriosis. Fertil Steril 2001, 75:1-10. 10.1016/S0015-0282(00)01630-7, 11163805.
41. Hsieh YY, Chang CC, Tsai FJ, Hsu Y, Tsai HD, Tsai CH. Polymorphisms for interleukin-4 (IL-4) -590 promoter, IL-4 intron3, and tumor necrosis factor alpha -308 promoter: non-association with endometriosis. J Clin Lab Anal 2002, 16:121-126. 10.1002/jcla.10021, 11968047.
42. Lee MK, Park AJ, Kim DH. Tumor necrosis factor-alpha and interleukin-6 promoter gene polymorphisms are not associated with an increased risk of endometriosis. Fertil Steril 2002, 77:1304-1305. 10.1016/S0015-0282(02)03132-1, 12057750.
43. Wieser F, Fabjani G, Tempfer C, Schneeberger C, Zeillinger R, Huber JC, Wenzl R. Tumor necrosis factor-alpha promotor polymorphisms and endometriosis. J Soc Gynecol Investig 2002, 9:313-318. 10.1016/S1071-5576(02)00174-0, 12383917.
44. Montgomery GW, Nyholt DR, Zhao ZZ, Treloar SA, Painter JN, Missmer SA, Kennedy SH, Zondervan KT. The search for genes contributing to endometriosis risk. Hum Reprod Update 2008, 14:447-457. 10.1093/humupd/dmn016, 2574950, 18535005.
45. Rier SE, Martin DC, Bowman RE, Dmowski WP, Becker JL. Endometriosis in rhesus monkeys (Macaca mulatta) following chronic exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin. Fundam Appl Toxicol 1993, 21:433-441. 10.1006/faat.1993.1119, 8253297.
46. Mayani A, Barel S, Soback S, Almagor M. Dioxin concentrations in women with endometriosis. Hum Reprod 1997, 12:373-375. 10.1093/humrep/12.2.373, 9070728.
47. Koninckx PR, Braet P, Kennedy SH, Barlow DH. Dioxin pollution and endometriosis in Belgium. Hum Reprod 1994, 9:1001-1002.
48. Hayes JD, Pulford DJ. The glutathione S-transferase supergene family: regulation of GST and the contribution of the isoenzymes to cancer chemoprotection and drug resistance. Crit Rev Biochem Mol Biol 1995, 30:445-600. 10.3109/10409239509083491, 8770536.
49. Guo SW. Glutathione S-transferases M1/T1 gene polymorphisms and endometriosis: a meta-analysis of genetic association studies. Mol Hum Reprod 2005, 11:729-743. 10.1093/molehr/gah206, 16291859.
50. Hardy J, Singleton A. Genomewide association studies and human disease. N Engl J Med 2009, 360:1759-1768. 10.1056/NEJMra0808700, 19369657.
51. NHGRI A Catalog of Published Genome-Wide Association Studies. NHGRI., http://www.genome.gov/gwastudies
52. Manolio TA, Brooks LD, Collins FS. A HapMap harvest of insights into the genetics of common disease. J Clin Invest 2008, 118:1590-1605. 10.1172/JCI34772, 2336881, 18451988.
53. McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, Hirschhorn JN. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008, 9:356-369. 10.1038/nrg2344, 18398418.
54. Vigano P, Somigliana E, Vignali M, Busacca M, Blasio AM. Genetics of endometriosis: current status and prospects. Front Biosci 2007, 12:3247-3255. 10.2741/2308, 17485295.
55. Templeman C, Marshall SF, Ursin G, Horn-Ross PL, Clarke CA, Allen M, Deapen D, Ziogas A, Reynolds P, Cress R, Anton-Culver H, West D, Ross RK, Bernstein L. Adenomyosis and endometriosis in the California Teachers Study. Fertil Steril 2008, 90:415-424. 10.1016/j.fertnstert.2007.06.027, 2813675, 17919609.
56. Missmer SA. Commentary: Endometriosis - epidemiologic considerations for a potentially 'high-risk' population. Int J Epidemiol 2009, 38:1154-1155. 10.1093/ije/dyp249, 19617382.
57. Missmer SA, Chavarro JE, Malspeis S, Bertone-Johnson ER, Hornstein MD, Spiegelman D, Barbieri RL, Willett WC, Hankinson SE. A prospective study of dietary fat consumption and endometriosis risk. Hum Reprod 2010, 25:1528-1535. 10.1093/humrep/deq044, 20332166.
58. Weuve J, Hauser R, Calafat AM, Missmer SA, Wise LA. Association of exposure to phthalates with endometriosis and uterine leiomyomata: findings from NHANES, 1999-2004. Environ Health Perspect 2010, 118:825-832. 10.1289/ehp.0901543, 2898860, 20185384.
59. Kvaskoff M, Mesrine S, Clavel-Chapelon F, Boutron-Ruault MC. Endometriosis risk in relation to naevi, freckles and skin sensitivity to sun exposure: the French E3N cohort. Int J Epidemiol 2009, 38:1143-1153. 10.1093/ije/dyp175, 19351698.
60. Treloar S, Hadfield R, Montgomery G, Lambert A, Wicks J, Barlow DH, O'Connor DT, Kennedy S. The International Endogene Study: a collection of families for genetic research in endometriosis. Fertil Steril 2002, 78:679-685. 10.1016/S0015-0282(02)03341-1, 12372440.
61. Kennedy S. Is there a genetic basis to endometriosis?. Semin Reprod Endocrinol 1997, 15:309-318. 10.1055/s-2008-1068761, 9383840.
62. Triendl R. Japan launches controversial Biobank project. Nat Med 2003, 9:982. 10.1038/nm0803-982b, 12894146.
63. Uno S, Zembutsu H, Hirasawa A, Takahashi A, Kubo M, Akahane T, Aoki D, Kamatani N, Hirata K, Nakamura Y. A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese. Nat Genet 2010, 42:707-710. 10.1038/ng.612, 20601957.
64. Gaetje R, Holtrich U, Engels K, Kissler S, Rody A, Karn T, Kaufmann M. Endometriosis may be generated by mimicking the ontogenetic development of the female genital tract. Fertil Steril 2007, 87:651-656. 10.1016/j.fertnstert.2006.07.1533, 17140576.
65. Goumenou AG, Arvanitis DA, Matalliotakis IM, Koumantakis EE, Spandidos DA. Loss of heterozygosity in adenomyosis on hMSH2, hMLH1, p16Ink4 and GALT loci. Int J Mol Med 2000, 6:667-671.
66. Horne BD, Carlquist JF, Muhlestein JB, Bair TL, Anderson JL. Association of variation in the chromosome 9p21 locus with myocardial infarction versus chronic coronary artery disease. Circ Cardiovasc Genet 2008, 1:85-92. 10.1161/CIRCGENETICS.108.793158, 2745117, 19956784.
67. Doria A, Wojcik J, Xu R, Gervino EV, Hauser TH, Johnstone MT, Nolan D, Hu FB, Warram JH. Interaction between poor glycemic control and 9p21 locus on risk of coronary artery disease in type 2 diabetes. JAMA 2008, 300:2389-2397. 10.1001/jama.2008.649, 2762126, 19033589.
68. Yang XR, Liang X, Pfeiffer RM, Wheeler W, Maeder D, Burdette L, Yeager M, Chanock S, Tucker MA, Goldstein AM. Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDNK2A mutations. Fam Cancer 2010,
69. Shete S, Kosking FJ, Robertson LB, Dobbins SE, Sanson M, Malmer B, Simon M, Marie Y, Boisselier B, Delattre JY, Hoang-Xuan K, El Hallani S, Idbaih A, Zelenika D, Andersson U, Henriksson R, Bergenheim AT, Feychting M, Ahlborn A, Schramm J, Linnebank M, Hemminki K, Kumar R, Hepworth SJ, Price A, Armstrong G, Liu Y, Gu X, Yu R, Lau C, Schoemaker M, Muir K, Swerdlow A, Lathrop M, Bondy M, Houlston RS. Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet 2009, 41:899-904. 10.1038/ng.407, 19578367.
70. Varghese JS, Easton DF. Genome-wide association studies in common cancers - what have we learnt?. Curr Opin Genet Dev 2010, 20:201-209. 10.1016/j.gde.2010.03.012, 20418093.