Genetics of endometriosis: a comprehensive review

References

• Angioni S. New insights on endometriosis. Minerva Ginecol. 2017;69:438–439.
   PubMed Web of Science ®Google Scholar
• Melis I, Litta P, Nappi L, et al. Sexual function in women with deep endometriosis: correlation with quality of life, intensity of pain, depression, anxiety, and body image. Intern J Sex Health. 2015;27:175–185.
   Web of Science ®Google Scholar
• Stochino-Loi E, Darwish B, Mircea O, et al. Does preoperative antimüllerian hormone level influence postoperative pregnancy rate in women undergoing surgery for severe endometriosis?. Fertil Steril. 2017;107:707–713.
   PubMed Web of Science ®Google Scholar
• Locci R, Nisolle M, Angioni S, et al. Expression of the gamma 2 chain of laminin-332 in eutopic and ectopic endometrium of patients with endometriosis. Reprod Biol Endocrinol. 2013;11:94.
   PubMed Web of Science ®Google Scholar
• Simpson JL, Elias S, Malinak LR, et al. Heritable aspects of endometriosis. I. Genetic studies. Am J Obstet Gynecol. 1980;137:327–331.
   PubMed Web of Science ®Google Scholar
• Lamb K, Hoffman 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.
   PubMed Web of Science ®Google Scholar
• Coxhead D, Thomas EJ. Familial inheritance of endometriosis in a British population: a case-control study. J Obstet Gynecol. 1993;13:42–44.
   Google Scholar
• Moen MH, Magnus P. The familial risk of endometriosis. Acta Obstet Gynecol Scand. 1993;72:560–564.
   PubMed Web of Science ®Google Scholar
• Hadfield RM, Mardon HJ, Barlow DH, et al. Endometriosis in monozygotic twins. Fertil Steril. 1997;68:941–942.
   PubMed Web of Science ®Google Scholar
• Treloar SA, O'Connor DT, O'Connor VM, et al. Genetic influences on endometriosis in an Australian twin sample. Fertil Steril. 1999;71:701–710.
   PubMed Web of Science ®Google Scholar
• Angioni S, Cofelice V, Sedda F, et al. Progestins for symptomatic endometriosis: results of clinical studies. Curr Drug Ther. 2015;10:91–104.
   Web of Science ®Google Scholar
• Lee GH, Kim SH, Choi YM, et al. Estrogen receptor beta gene +1730 G/A polymorphism in women with endometriosis. Fertil Steril. 2007;88:785–788.
   PubMed Web of Science ®Google Scholar
• Wang Z, Yoshida S, Negoro K, et al. 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.
   PubMed Web of Science ®Google Scholar
• Lattuada D, Somigliana E, Vigano P, et al. Genetics of endometriosis: a role for the progesterone receptor gene polymorphism PROGINS?. Clin Endocrinol. 2004;61:190–194.
   PubMed Web of Science ®Google Scholar
• Wieser F, Schneeberger C, Tong D, et al. PROGINS receptor gene polymorphism is associated with endometriosis. Fertil Steril. 2002;77:309–312.
   PubMed Web of Science ®Google Scholar
• De Carvalho CV, Nogueira De Souza NC, Costa AM, et al. Genetic polymorphisms of cytochrome P450cl7alpha (CYP17) and progesterone receptor genes (PROGINS) in the assessment of endometriosis risk. Gynecol Endocrinol. 2007;23:29–33.
   PubMed Web of Science ®Google Scholar
• Govindan S, Ahmad SN, Vedicherla B, et al. Association of progesterone receptor gene (PROGINS) with endometriosis, uterine fibroids and breast cancer. Cancer Biomark. 2007;3:73–77.
   PubMedGoogle Scholar
• Treloar SA, Zhao ZZ, Armitage T, et al. Association between polymorphisms in the progesterone receptor gene and endometriosis. Mol Hum Reprod. 2005;11:641–647.
   PubMed Web of Science ®Google Scholar
• Van Kaam KJ, Romano A, Schouten JP, et al. Progesterone receptor polymorphism +331G/A is associated with a decreased risk of deep infiltrating endometriosis. Hum Reprod. 2007;22:129–135.
   PubMed Web of Science ®Google Scholar
• Hsieh YY, Chang CC, Tsai FJ, et al. 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.
   PubMed Web of Science ®Google Scholar
• Yu YX, Xiu YL, Chen X, et al. Transforming growth factor-beta 1 involved in the pathogenesis of endometriosis through regulating expression of vascular endothelial growth factor under hypoxia. Chin Med J. 2017;130:950–956.
   PubMed Web of Science ®Google Scholar
• Wieser F, Fabjani G, Tempfer C, et al. Tumor necrosis factor–alpha promoter polymorphisms and endometriosis. J Soc Gynecol Investig. 2002;9:313–318.
   PubMedGoogle Scholar
• Somigliana E, Viganò P, Vignoli M. Endometriosis and unexplained recurrent spontaneous abortion: pathological states resulting from aberrant modulation of natural killer cell function? Hum Reprod Update. 1999;5:41–52.
   Web of Science ®Google Scholar
• Semino C, Semino A, Pietra G, et al. Role of major hystocompatibility complex class I expression and natural killer-like T cell in yhe genetic control of endometriosis. Fertil Steril. 1995;64:909–916.
   PubMed Web of Science ®Google Scholar
• Viganò P, Pardi R, Magri B, et al. Expression of intercellular adhesion molecule-1 (ICAM-1) on cultured human endometrial stromal cells and its role in the interaction with natural killers. Am J Reprod Immunol. 1994;32:139–145.
   PubMed Web of Science ®Google Scholar
• Wang X, Lin Q, Guo S. Study on polymorphism of human leukocyte antigen I in patients with endometriosis. Zhanghua Fu Chan Ke Za Zhi. 2001;36:150–152.
   PubMedGoogle Scholar
• Ishii K, Takakuwa K, Kashima K, et al. Associations between patients with endometriosis and HLA class II; the analysis of HLA-DQB1 and HLA-DPB1 genotypes. Hum Reprod. 2003;18:985–989.
   PubMed Web of Science ®Google Scholar
• McLaren J, Prentice A, Charnock-Jones DS, et al. Vascular endothelial growth factor(VEGF) concentrations are elevated in peritoneal fluid of women with endometriosis. Hum Reprod. 1996;11:220–223.
   PubMed Web of Science ®Google Scholar
• Perini JA, Cardozo JV, Berardo PT, et al. Role of vascular endothelial growth factor polymorphisms (−2578C > A, −460T > C, −1154G > A, +405G > C and +936C > T) in endometriosis: a case-control study with Brazilians. BMC Womens Health. 2014;14:117.
   PubMed Web of Science ®Google Scholar
• Hsieh YY, Chang CC, Tsai FJ, et al. T homozygote and allele of epidermal growth factor receptor 2073 gene polymorphism are associated with higher susceptibility to endometriosis and leiomyomas. Fertil Steril. 2005;83:796–799.
   PubMed Web of Science ®Google Scholar
• Inagaki M, Yoshida S, Kennedy S, et al. Association study between epidermal growth factor receptor and epidermal growth factor polymorphisms and endometriosis in a Japanese population. Gynecol Endocrinol. 2007;23:474–478.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Arvanatis DA, Koumantakis GE, et al. CYP1A1, CYP19, and GSTM1 polymorphisms increase the risk of endometriosis. Fertil. Steril. 2003;79:707–709.
   Web of Science ®Google Scholar
• Hsieh Y-Y, Chang C-C, Tsai F-J, et al. Cytochrome P450c17alpha 5'-untranslated region *T/C polymorphism in endometriosis. J Genet. 2004;83:189–192.
   PubMed Web of Science ®Google Scholar
• Juo SH, Wang TN, Lee JN, et al. CYP17, CYP1A1 and COMT polymorphisms and the risk of adenomyosis and endometriosis in Taiwanese women. Hum Reprod. 2006;21:1498–1502.
   PubMed Web of Science ®Google Scholar
• Kado N, Kitawaki J, Obayashi H, et al. Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women. Hum Reprod. 2002;17:897–902.
   PubMed Web of Science ®Google Scholar
• Lambrinoudaki IV, Augoulea A, Christodoulakos GE, et al. Measurable serum markers of oxidative stress response in women with endometriosis. Fertil Steril. 2009;91:46–50.
   PubMed Web of Science ®Google Scholar
• Attar R, Cacina C, Sozen S, et al. DNA repair genes in endometriosis. Genet Mol Res. 2010;9:629–636.
   PubMed Web of Science ®Google Scholar
• Rahmioglu N, Montgomery GW, Zondervan KT. Genetics of endometriosis. Womens Health (Lond). 2015;11:577–586.
   PubMedGoogle Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Painter JN, Nyholt DR, Morris A, et al. High-density fine-mapping of a chromosome 10q26 linkage peak suggests association between endometriosis and variants close to CYP2C19. Fertil Steril. 2011;95:2236–2240.
   PubMed Web of Science ®Google Scholar
• Cribb AE, Knight MJ, Dryer D, et al. Role of a polymorphic human CYP450 enzymes in estrone oxidation. Cancer Epidemiol Biomarkers Prev. 2006;15:551–558.
   PubMed Web of Science ®Google Scholar
• Uno S, Zembutsu H, Hirasawa A, et al. A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese. Nat Genet. 2010;42:707–710.
   PubMedGoogle Scholar
• Martini M, Ciccarone M, Garganese G, et al. Possible involvement of hMLH1, p16INK4a and PTEN in the malignant transformation of endometriosis. Int J Cancer. 2002;102:398–406.
   PubMed Web of Science ®Google Scholar
• Gaetje R, Holtrich U, Engels K, et al. Endometriosis may be generated by mimicking the ontogenetic development of the female genital tract. Fertil Steril. 2007;87:651–656.
   PubMed Web of Science ®Google Scholar
• Powell JE, Fung JN, Shakhbazov K, et al. Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339. Hum Mol Genet. 2016;25:5046–5058.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Grechukhina O, Petracco R, Popkhadze S, et al. A polymorphism in a let-7 microRNA binding site of KRAS in women with endometriosis. EMBO Mol Med. 2012;4:202–217.
   Web of Science ®Google Scholar
• Luong HTT, Nyholt DR, Painter JN, et al. No evidence for genetic association with the let-7 microRNA-binding site or the common KRAS variants in risk of endometriosis. Hum Rep. 2012;12:3616–3621.
   Google Scholar
• Nyholt DR, Low SK, Anderson CA, et al. Genome-wide association meta-analysis identifies new endometriosis risk loci. Nat Genet. 2012;44:1355–1359.
   PubMed Web of Science ®Google Scholar
• Sapkota Y, Steinthorsdottir V, Morris AP, et al. Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. Nat Comms. 2017;8:15539.
   PubMed Web of Science ®Google Scholar
• Chettier R, Albertsen HM, Ward K. Next generation sequencing of families with endometriosis identifies new genomic regions likely to contribute to heritability. Fertil Steril. 2014;102:76–77.
   Web of Science ®Google Scholar
• Er TK, Su YF, Wu CC, et al. Targeted next-generation sequencing for molecular diagnosis of endometriosis-associated ovarian cancer. J Mol Med. 2016;94:835–847.
   PubMed Web of Science ®Google Scholar
• Sapkota Y, Vivo I, Steinthorsdottir V, et al. Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry. Sci Rep. 2017;7:11380.
   PubMed Web of Science ®Google Scholar
• Fung JN, Montgomery GW. Genetics of endometriosis: state of the art on genetic risk factors for endometriosis. Best Pract Res Clin Obstet Gynaecol. 2018;50:61–71.
   PubMed Web of Science ®Google Scholar
• Freedman ML, Monteiro AN, Gayther SA, et al. Principles for the post-GWAS functional characterization of cancer risk loci. Nat Genet. 2011;43:513–518.
   PubMed Web of Science ®Google Scholar
• Westra HJ, Peters MJ, Esko T, et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat Genet. 2013;45:1238–1243.
   PubMed Web of Science ®Google Scholar
• Holdsworth-Carson SJ, Fung JN, Luong HTT, et al. Endometrial vezatin and its association with endometriosis risk. Hum Reprod. 2016;31:999–1013.
   PubMed Web of Science ®Google Scholar
• Melis I, Agus M, Pluchino N, et al. Alexithymia in women with deep endometriosis? a pilot study. JE. 2014;6:26–33.
   Google Scholar