Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature)

In the paper

“This study did not detect any differences in perioperative outcomes of surgery between robotic surgery and laparoscopy.”

What the sources say

• Not checked yetcites [130] Nezhat, 2015, Robotic-assisted laparoscopy vs conventional laparoscopy for the treatment of advanced stage endometriosis, J. Minim. Invasive Gynecol. source

In the paper

“Despite the passage of such a long period of time and much scientific research, Sampson’s theory is still dominant among other hypotheses regarding the etiopathogenesis of endometriosis.”

In the paper

“However, since this mechanism is also observed in healthy women, other factors must also be involved in the formation of endometriosis foci.”

In the paper

“It has still not been possible to fully explain why the retrograde transport of menstrual blood, which occurs in nearly 90% of women of childbearing age, only leads to the survival of endometrial tissue outside the uterine cavity in a minority of women [7].”

What the sources say

• Not checked yetcites [7] Nap, 2004, Pathogenesis of endometriosis, Best Pract. Res. Clin. Obstet. Gynaecol. source

In the paper

“It has still not been possible to fully explain why the retrograde transport of menstrual blood, which occurs in nearly 90% of women of childbearing age, only leads to the survival of endometrial tissue outside the uterine cavity in a minority of women [7].”

What the sources say

• Not checked yetcites [7] Nap, 2004, Pathogenesis of endometriosis, Best Pract. Res. Clin. Obstet. Gynaecol. source

In the paper

“No association with poultry, fish, shellfish and egg consumption and the risk of endometriosis was demonstrated [52].”

What the sources say

• Not checked yetcites [52] Yamamoto, 2018, A prospective cohort study of meat and fish consumption and endometriosis risk, Am. J. Obstet. Gynecol. source

In the paper

“An increased number of activated macrophages with a reduced ability to phagocytose in the peritoneal cavity is characteristic of women with endometriosis.”

What the sources say

• Not checked yetcites [64] Burney, 2014, Biomarker development in endometriosis, Scand. J. Clin. Lab. Investig. Suppl. source

In the paper

“The consumption of green vegetables and fresh fruits is considered to be the most beneficial [51].”

What the sources say

• Not checked yetcites [51] Parazzini, 2004, Selected food intake and risk of endometriosis, Hum. Reprod. source

In the paper

“Peritoneal macrophages in women with endometriosis have increased mRNA expression of the cyclooxygenase-2 (COX-2), which resulted in increased prostaglandin secretion [64].”

What the sources say

• Not checked yetcites [64] Burney, 2014, Biomarker development in endometriosis, Scand. J. Clin. Lab. Investig. Suppl. source

In the paper

“Patients with LPE reported more frequent constipation and voiding symptoms [42].”

What the sources say

• Not checked yetcites [42] Mabrouk, 2019, Parametrial Endometriosis: The Occult Condition that Makes the Hard Harder, J. Minim. Invasive Gynecol. source

In the paper

“They secrete pro-inflammatory cytokines, such as IL-6, TNF-α, IL-1β and IL-8, in increased amounts.”

What the sources say

• Not checked yetcites [64] Burney, 2014, Biomarker development in endometriosis, Scand. J. Clin. Lab. Investig. Suppl. source

In the paper

“Disorders of the immune system accompany virtually every stage of endometriosis development [63].”

What the sources say

• Not checked yetcites [63] Dmowski, 1981, Deficient cellular immunity in endometriosis, Am. J. Obstet. Gynecol. source

In the paper

“It was shown that respondents who reported eating > 2 servings/day of red meat had a 56% higher risk of endometriosis compared to those consuming ≤ 1 serving/week.”

What the sources say

• Not checked yetcites [52] Yamamoto, 2018, A prospective cohort study of meat and fish consumption and endometriosis risk, Am. J. Obstet. Gynecol. source

In the paper

“It causes a significant deterioration in the quality of life [30,31].”

What the sources say

• Not checked yetcites [30] Vessey, 1993, Epidemiology of endometriosis in women attending family planning clinics, BMJ source
• Not checked yetcites [31] Vigano, 2004, Endometriosis: Epidemiology and eathiological factors, Best Pract. Res. Clin. Obstet. Gynaecol. source

In the paper

“There are literature data on the statistically higher occurrence of certain immune diseases together with endometriosis, for example, rheumatoid arthritis or hypothyroidism [57].”

What the sources say

• Not checked yetcites [57] Sinaii, 2002, High rates of autoimmune and endocrine disorders, fibromyalgia, chronic fatigue syndrome and atopic diseases among women with endometriosis: A survey analysis, Hum. Reprod. source

In the paper

“epidemiological studies analyzing the cycle of women with endometriosis have shown that the early first cycle (before the age of 11) is associated with the risk of endometriosis [43,44,45,46]”

What the sources say

• Not checked yetcites [43] Cramer, 1986, The relation of endometriosis to menstrual characteristic, smoking, and exercise, JAMA source
• Not checked yetcites [44] Parazzini, 1989, Risk faktors for endometroid, mucinous, and serous benign ovarian cysts, Int. J. Epidemiol. source
• Not checked yetcites [45] Matorras, 1995, Epidemiology of endometriosis in infertile woman, Fertil. Steril. source
• Not checked yetcites [46] Parazzini, 1995, Pelvic endometriosis: Reproductive and menstrual risk factors at different stages in Lombardy, northern Italy, J. Epidemiol. Community Health source

In the paper

“Obesity is also a risk factor for severe dysmenorrhea [50].”

What the sources say

• Not checked yetcites [50] Tang, 2020, Is body mass index associated with the incidence of endometriosis and the severity of dysmenorrhoea: A case-control study in China?, BMJ Open source

In the paper

“Endometriosis is more often diagnosed in infertile women who are active smokers and whose body mass index (BMI) is normal or low [49].”

What the sources say

• Not checked yetcites [49] Molgaard, 1985, Current concepts in endometriosis, West J. Med.

In the paper

“Red meat exerts an antagonistic effect on the development of endometriosis compared to vegetables and fruits.”

What the sources say

• Not checked yetcites [51] Parazzini, 2004, Selected food intake and risk of endometriosis, Hum. Reprod. source

In the paper

“Associations exist between LPE and straining to void, the feeling of incomplete emptying, intermittency, and abnormal residual urine and bladder outlet obstruction.”

What the sources say

• Not checked yetcites [42] Mabrouk, 2019, Parametrial Endometriosis: The Occult Condition that Makes the Hard Harder, J. Minim. Invasive Gynecol. source

In the paper

“Endometriosis is also considered a chronic inflammatory process associated with immune processes [62].”

What the sources say

• Not checked yetcites [62] Matarese, 2003, Pathogenesis of endometriosis: Natura limmunity dysfunction or autoimmune disease?, Trends Mol. Med. source

In the paper

“Implantation in the peritoneum is explained by a local disorder of the mechanisms that prevent adhesion. The consequence is an increased production of cytokine macrophages, including tumor necrosis factor α (TNF-α) and interleukin [55].”

What the sources say

• Not checked yetcites [55] Rana, 1996, Basal and stimulated secretion of cytokines by peritoneal macrophages in women with endometriosis, Fertil. Steril. source

In the paper

“This suggests the presence of other factors determining the survival of endometrial cells in the peritoneal cavity and their implantation [54].”

What the sources say

• Not checked yetcites [54] Witz, 1997, Semin Reprod Endocrinol, Pathogenesis

In the paper

“Immune phenomena are important for explaining the possible pathomechanisms of endometriosis foci, as studies indicate altered humoral and cellular immunity [56].”

What the sources say

• Not checked yetcites [56] Lebovic, 2001, Immunobiology of endometriosis, Fertil. Steril. source

In the paper

“The time from the appearance of the first symptoms of the disease to the diagnosis is up to 8 to 10 years [38].”

What the sources say

• Not checked yetcites [38] Ahn, 2017, Biomarkers in endometriosis: Challenges and opportunities, Fertil. Steril. source

In the paper

“According to literature data, Th2 lymphocytes gain an advantage in women with endometriosis [79].”

What the sources say

• Not checked yetcites [79] Witz, 2003, Pathogenesis of endometriosis--current research, Hum. Fertil. source

In the paper

“Evidence suggests that the symptoms of endometriosis are the result of a local peritoneal inflammatory response triggered by an ectopic endometrial implant that undergoes cyclic bleeding [137].”

What the sources say

• Not checked yetcites [137] Arya, 2005, Endometriosis: Current thinking, Curr. Obstet. Gynaecol. source

In the paper

“Impaired function of NK cells reduces their ability to cleanse the peritoneal cavity of endometrial elements after retrograde outflow of menstrual blood [80].”

What the sources say

• Not checked yetcites [80] Hill, 1992, Immunology and endometriosis, Fertil. Steril. source

In the paper

“The latest study suggests that robot-assisted laparoscopy is a possible method of DIE resection [134].”

What the sources say

• Not checked yetcites [134] Hiltunen, 2021, Robotic-assisted laparoscopy is a feasible method for resection of deep infiltrating endometriosis, especially in the rectosigmoid area, J. Int. Med. Res. source

In the paper

“Results from the final model simulations indicate support for recommendations for the use of elagolix at a dose of 150 mg q.d. for 24 months [121].”

What the sources say

• Not checked yetcites [121] Nader, 2020, Exposure-Safety Analyses Identify Predictors of Change in Bone Mineral Density and Support Elagolix Labeling for Endometriosis-Associated Pain. CPT Pharmacometrics, Syst. Pharm.

In the paper

“The latest drug to be approved by the Food and Drug Administration (FDA) is elagolix, a drug for the treatment of moderate to severe pain associated with endometriosis [117].”

What the sources say

• Not checked yetcites [117] Taylor, 2017, Treatment of Endometriosis-Associated Pain with Elagolix, an Oral GnRH Antagonist, N. Engl. J. Med. source

In the paper

“Aromatase inhibitors interrupt estrogen production in both endometriosis foci and ovaries, causing a significant reduction in estrogen levels.”

What the sources say

• Not checked yetcites [116] Donnez, J., and Dolmans, M.M. (2021). Endometriosis and Medical Therapy: From Progestogens to Progesterone Resistance to GnRH Antagonists: A Review. J. Clin. Med., 10. source

In the paper

“Progestogen preparations—contain progesterone derivatives, whose function is to reduce the level of GnRH, and thus the levels of FSH, LH and estrogen.”

What the sources say

• Not checked yetcites [116] Donnez, J., and Dolmans, M.M. (2021). Endometriosis and Medical Therapy: From Progestogens to Progesterone Resistance to GnRH Antagonists: A Review. J. Clin. Med., 10. source

In the paper

“Pharmacological, surgical and combination treatments are used to treat endometriosis [115].”

What the sources say

• Not checked yetcites [115] Basta, 2012, Stanowisko Zespołu Ekspertów Polskiego Towarzystwa Ginekologicznego dotyczące diagnostyki i metod leczenia endometriozy, Ginekol. Pol.

In the paper

“However, patients with features of a complex pelvic situation, such as severe endometriosis, increased body mass index, or previous surgeries, may benefit from robotic surgery [131].”

What the sources say

• Not checked yetcites [131] Hur, 2021, Robotic treatment of bowel endometriosis, Best Pract. Res. Clin. Obstet. Gynaecol. source

In the paper

“However, the gold standard in the diagnosis of endometriosis is laparoscopic surgery, with simultaneous confirmation in histopathological examination [114].”

What the sources say

• Not checked yetcites [114] Horne, 2019, Surgical removal of superficial peritoneal endometriosis for managing women with chronic pelvic pain: Time for a rethink?, BJOG source

In the paper

“In women with endometriosis, reduced Natural Killer (NK) cell activity is found.”

What the sources say

• Not checked yetcites [80] Hill, 1992, Immunology and endometriosis, Fertil. Steril. source

In the paper

“The formation of new vessels is a necessary condition for the development of the ectopic endometrium, especially in the peritoneal microenvironment.”

What the sources say

• Not checked yetcites [81] Laschke, 2011, Vasculogenesis: A new piece of the endometriosis puzzle, Hum. Reprod. Update source

In the paper

“Regular exercise, on the other hand, has a protective effect against inflammatory diseases because it induces an increase in systemic levels of cytokines with anti-inflammatory properties [138].”

What the sources say

• Not checked yetcites [138] Febbraio, 2007, Exercise and inflammation, J. Appl. Physiol. source

In the paper

“Progressive muscle relaxation training has been shown to be more effective in reducing pain, anxiety, and depression in women with endometriosis undergoing hormone therapy [142].”

What the sources say

• Not checked yetcites [142] Zhao, 2012, Effects of progressive muscular relaxation training on anxiety, depression and quality of life of endometriosis patients under gonadotrophin-releasing hormone agonist therapy, Eur. J. Obstet. Gynecol. Reprod. Biol. source

In the paper

“The results of a study in which about 1700 women with moderate or severe pain in endometriosis participated played a part in the above decision. Doses of this drug—150 mg once a day or 200 mg twice a day—significantly reduced the most common types of endometrial pain: pelvic pain and sex-related pain.”

What the sources say

• Not checked yetcites [117] Taylor, 2017, Treatment of Endometriosis-Associated Pain with Elagolix, an Oral GnRH Antagonist, N. Engl. J. Med. source

In the paper

“Recent studies have shown that AFAP1-AS1 may be a potential therapeutic target for controlling the progression of endometriosis [161].”

What the sources say

• Not checked yetcites [161] Rekker, K., Tasa, T., Saare, M., Samuel, K., Kadastik, Ü., Karro, H., Götte, M., Salumets, A., and Peters, M. (2018). Differentially-Expressed miRNAs in Ectopic Stromal Cells Contribute to Endometriosis Development: The Plausible Role of miR-139-5p and miR-375. Int. J. Mol. Sci., 19. source

In the paper

“Unfortunately, despite the passage of years and many studies in which an endometriosis marker was sought, none of the tested substances can be recommended for the diagnosis of endometriosis.”

In the paper

“Let-7b has a pleiotropic effect in the pathophysiology of endometriosis, affecting the regulation of estrogen levels and the receptor of these growth factors.”

In the paper

“Impaired iron homeostasis can have a significant effect on the pathophysiology of peritoneal endometriosis through the direct influence of haemoglobin derivatives and/or the creation of a pro-inflammatory and pro-oxidative environment.”

In the paper

“Recent studies showed that the levels of miRNAs 199b-3p, 224-5p, and Let-7d-3p in plasma are potential diagnostic biomarkers for endometriosis patients [165].”

What the sources say

• Not checked yetcites [165] Zafari, 2021, A Panel of Plasma miRNAs 199b-3p, 224–225p and Let-7d-3p as Non-Invasive Diagnostic Biomarkers for Endometriosis, Reprod. Sci. source

In the paper

“The elevated concentrations of TNF-alpha, TNF-beta, LPS, IL-1beta and CD40 in peritoneal fluid in women with endometriosis promote processes such as adhesion, invasion, proliferation and angiogenesis that stimulate the development of the disease [155].”

What the sources say

• Not checked yetcites [155] Morgan, 2011, Crosstalk of reactive oxygen species and NF-κB signaling, Cell Res. source

In the paper

“In addition, miR-146a, miR-149 and miR-499 may have a role in the pathogenesis of endometriosis [166].”

What the sources say

• Not checked yetcites [166] Farsimadan, 2021, MicroRNA variants in endometriosis and its severity, Br. J. Biomed. Sci. source

In the paper

“It was shown that the level of YKL-40 was significantly higher in patients with endometriosis compared with healthy women [150].”

What the sources say

• Not checked yetcites [150] Ural, 2015, Serum YKL-40 levels as a novel marker of inflammation in patients with endometriosis, Clin. Exp. Obstet. Gynecol. source

In the paper

“So far, no specific marker for endometriosis has been identified.”

In the paper

“Pain is a typical symptom of endometriosis, so the conduction pathways were analyzed and the brain-derived neurotrophic factor (BDNF) was found to be elevated in women with endometriosis compared to the control group [147].”

What the sources say

• Not checked yetcites [147] Wessels, 2016, Assessing brain-derived neurotrophic factor as a novel clinical marker of endometriosis, Fertil. Steril. source

In the paper

“In conclusion, studies of the diverse microRNA pool in endometriosis have shown that many biological processes are regulated by the above molecules and can have a significant impact on the development of lesions.”

In the paper

“Women with endometriosis have increased oxidative stress in the peritoneal cavity. Data indicate that oxidative stress occurs mainly in the peritoneal cavity in women with advanced stage of the disease [154].”

What the sources say

• Not checked yetcites [154] Polak, 2018, Disrupted iron metabolism in peritoneal fluid may induce oxidative stress in the peritoneal cavity of women with endometriosis, Ann. Agric. Environ. Med. source

In the paper

“Laudański et al. showed that the mammalian target of rapamycin (mTOR) and VEGF pathway genes can be regulated by abnormal miRNA expression in endometriosis [161].”

What the sources say

• Not checked yetcites [161] Rekker, K., Tasa, T., Saare, M., Samuel, K., Kadastik, Ü., Karro, H., Götte, M., Salumets, A., and Peters, M. (2018). Differentially-Expressed miRNAs in Ectopic Stromal Cells Contribute to Endometriosis Development: The Plausible Role of miR-139-5p and miR-375. Int. J. Mol. Sci., 19. source

In the paper

“Hormonal imbalance occurs by reducing the levels of miRNA-23a and miRNA-23b and increasing miRNA-:135a, 135b, 29c and 194-3p [167].”

What the sources say

• Not checked yetcites [167] Raja, 2021, Endometriosis, infertility and MicroRNA’s: A review, J. Gynecol. Obstet. Hum. Reprod. source

In the paper

“In summary, lncRNAs show potential as biomarkers of endometriosis [176].”

What the sources say

• Not checked yetcites [176] Wang, 2021, Long noncoding RNAs in endometriosis: Biological functions, expressions, and mechanisms, J. Cell Physiol. source

In the paper

“Polak et al. showed that the peritoneal fluid of women with endometriosis is characterized by impaired iron metabolism [154].”

What the sources say

• Not checked yetcites [154] Polak, 2018, Disrupted iron metabolism in peritoneal fluid may induce oxidative stress in the peritoneal cavity of women with endometriosis, Ann. Agric. Environ. Med. source

In the paper

“As research shows, BDNF is not useful in detecting peritoneal endometriosis and deeply infiltrating endometriosis [148].”

What the sources say

• Not checked yetcites [148] Rocha, 2017, Plasma brain-derived neurotrophic factor in women with pelvic pain: A potential biomarker for endometriosis?, Biomark. Med. source

In the paper

“The miRNA hsa-let-7i-5p and hub miRNAs including hsa-let-7a-5p, hsa-let-7b-5p, hsa-miR-320a, and hsa-miR-320d might be potential diagnostic biomarkers [164].”

What the sources say

• Not checked yetcites [164] Gu, 2020, Identification of MicroRNAs as Potential Biomarkers in Ovarian Endometriosis, Reprod. Sci. source

In the paper

“AFAP1-AS1 silencing can inhibit cell proliferation and promote apoptosis by regulating the STAT3/TGF-β/Smad signaling pathway by targeting miR-424-5p in endometrial stromal cells [173].”

What the sources say

• Not checked yetcites [173] Huan, 2021, LncRNA AFAP1-AS1 regulates proliferation and apoptosis of endometriosis through activating STAT3/TGF-β/Smad signaling via miR-424-5p, J. Obstet. Gynaecol. Res. source

In the paper

“In the paper of Sahin et al., Let-7b microRNAs have been shown to influence the expression of the ER-α, ER-ß, Cyp19, KRAS 4A, KRAS 4B, and IL-6 genes [146].”

What the sources say

• Not checked yetcites [146] Sourial, 2014, Theories on the pathogenesis of endometriosis, Int. J. Reprod. Med. source

In the paper

“It is a reversible process, therefore, during the epithelial-mesenchymal transition (EMT, reverse process MET), it is possible to reach the formation of foci of endometriosis [145].”

What the sources say

• Not checked yetcites [145] Matsuzaki, 2012, Epithelial to mesenchymal transition-like and mesench-ymal to epithelial transition-like processes might be involved in the pathogenesis of pelvic endometriosis, Hum. Reprod. source

In the paper

“The only markers that have found partial clinical use in the diagnosis of endometriosis are the glycoproteins Ca-125 and Ca-19-9.”

In the paper

“In addition, hsa-miR-483-5p and miR-629 have been shown to be significantly reduced in expression in endometriosis patients [163].”

What the sources say

• Not checked yetcites [163] Laudanski, 2013, MicroRNAs expression profiling of eutopic proliferative endometrium in women with ovarian endometriosis, Reprod. Biol. Endocrinol. source

In the paper

“Literature data suggest that circulating YKL-40 levels may be a new biomarker for diagnosing and monitoring endometriosis.”

In the paper

“Upregulation of miRNA-199a and miRNA-16 promotes inflammation and cell proliferation in endometrial lesions [168].”

What the sources say

• Not checked yetcites [168] Monnaka, 2021, Overview of miRNAs for the non-invasive diagnosis of endometriosis: Evidence, challenges and strategies. A systematic review, Einstein source

In the paper

“However, the use of microRNA in the diagnosis of endometriosis is only at the initial stage of research [169,170].”

What the sources say

• Not checked yetcites [169] Coutinho, 2019, New biomarkers in endometriosis, Adv. Clin. Chem. source
• Not checked yetcites [170] Bjorkman, 2019, microRNAs in endometriosis: Biological function and emerging biomarker candidates, Biol. Reprod.

In the paper

“Research indicates a significant role for HOTAIR in promoting endometriosis [175].”

What the sources say

• Not checked yetcites [175] Chang, C.Y., Tseng, C.C., Lai, M.T., Chiang, A.J., Lo, L.C., Chen, C.M., Yen, M.J., Sun, L., Yang, L., and Hwang, T. (2021). Genetic impacts on thermostability of onco-lncRNA HOTAIR during the development and progression of endometriosis. PLoS ONE, 16. source

In the paper

“Research indicates a link between the 2p25.1 region, located near the GREB1 gene, and the risk of endometriosis [185].”

What the sources say

• Not checked yetcites [185] Fung, 2015, Functional evaluation of genetic variants associated with endometriosis near GREB1, Hum. Reprod. source

In the paper

“Literature reports on 998 Belgian patients with endometriosis and 783 controls showed that the polymorphisms rs7521902, rs13394619 and rs6542095 may be associated with this disease [170].”

What the sources say

• Not checked yetcites [170] Bjorkman, 2019, microRNAs in endometriosis: Biological function and emerging biomarker candidates, Biol. Reprod.

In the paper

“The meta-analysis identified two additional loci that were associated with endometriosis: RNF144B-ID4 at 6p22.3 (rs6907340) and HNRNPA3P1-LOC100130539at 10q11.21 (rs10508881).”

What the sources say

• Not checked yetcites [188] Albertsen, H.M., Chettier, R., Farrington, P., and Ward, K. (2013). Genome-wide association study link novel loci to endometriosis. PLoS ONE, 8. source

In the paper

“In the work of the Polish team Sobalska et al., GWAS analysis found statistically significant links between new SNPs not previously described in the literature and endometriosis [189].”

What the sources say

• Not checked yetcites [189] Smolarz, 2017, New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study, Eur. J. Obstet. Gynecol. Reprod. Biol. source

In the paper

“Genetic analyses of the Bylińska et al. confirm the role of polymorphisms of the HLA-G gene and its receptors LILRB1 and LILRB2 for the development of endometriosis [192].”

What the sources say

• Not checked yetcites [192] Malejczyk, 2018, The impact of HLA-G, LILRB1 and LILRB2 gene polymorphisms on susceptibility to and severity of endometriosis, Mol. Genet. Genom. source

In the paper

“This region may be involved in the regulation of nearby genes involved in the development of the uterus and its lining.”

What the sources say

• Not checked yetcites [183] Nyholt, 2012, Genome-wide association meta-analysis identifies new endometriosis risk loci, Nat. Genet. source

In the paper

“It was shown that the GG genotype of the rs1632947 polymorphism of the HLA-G gene played a protecting role against disease and its severe stages; similarly, the CT genotype of the polymorphism rs1233334 HLA-G played a protective role against disease progression.”

What the sources say

• Not checked yetcites [193] Mostowska, 2018, The assessment of GWAS—Identified polymorphisms associated with infertility risk in Polish women with endometriosis, Ginekol. Pol. source

In the paper

“In these studies, a relationship was observed between the rs10129516 polymorphism, located on chromosome 14 in the PARP1P2 and RHOJ intergenic region, and endometriosis.”

What the sources say

• Not checked yetcites [189] Smolarz, 2017, New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study, Eur. J. Obstet. Gynecol. Reprod. Biol. source

In the paper

“It is worth noting that three genetic variants in the area of GREB1 (close to rs13394619) and CDKN2B-AS1 (close to rs1537377) also showed nominally significant associations with endometriosis [186].”

What the sources say

• Not checked yetcites [186] Sapkota, 2015, Independent Replication and Meta-Analysis for Endometriosis Risk Loci, Twin Res. Hum. Genet. source

In the paper

“Literature data on GWAS studies suggest that certain genetic variants, significantly more common in endometriosis, appear to be good functional candidates for the genetic factors responsible for the onset of this disease [185].”

What the sources say

• Not checked yetcites [185] Fung, 2015, Functional evaluation of genetic variants associated with endometriosis near GREB1, Hum. Reprod. source

In the paper

“On the basis of statistical analyses of the family history of endometriosis, it has been proven that a genetic factor is responsible for about 50% of the predisposition to the disease [178].”

What the sources say

• Not checked yetcites [178] Montgomery, 2020, Should genetics now be considered the pre-eminent etiologic factor in endometriosis?, J. Minim. Invasive Gynecol. source

In the paper

“It was shown that the GG genotype of the rs1632947 polymorphism of the HLA-G gene played a protecting role against disease and its severe stages; similarly, the CT genotype of the polymorphism rs1233334 HLA-G played a protective role against disease progression.”

What the sources say

• Not checked yetcites [193] Mostowska, 2018, The assessment of GWAS—Identified polymorphisms associated with infertility risk in Polish women with endometriosis, Ginekol. Pol. source

In the paper

“No association of polymorphism of the KIR2DL4 gene with endometriosis was observed [193].”

What the sources say

• Not checked yetcites [193] Mostowska, 2018, The assessment of GWAS—Identified polymorphisms associated with infertility risk in Polish women with endometriosis, Ginekol. Pol. source

In the paper

“On the basis of these studies, loci associated with the development of the disease–7p15.2–was established.”

What the sources say

• Not checked yetcites [165] Zafari, 2021, A Panel of Plasma miRNAs 199b-3p, 224–225p and Let-7d-3p as Non-Invasive Diagnostic Biomarkers for Endometriosis, Reprod. Sci. source

In the paper

“The AA genotypes of the rs41308748 polymorphism of the LILRB1 gene and AG rs383369 of the LILRB2 gene predisposed to endometriosis and its progression.”

What the sources say

• Not checked yetcites [193] Mostowska, 2018, The assessment of GWAS—Identified polymorphisms associated with infertility risk in Polish women with endometriosis, Ginekol. Pol. source

In the paper

“Genetic studies provide evidence that changes in DNA increase the likelihood of some women developing endometriosis.”

What the sources say

• Not checked yetcites [195] Rahmioglu, 2015, Genetics of endometriosis, Womens Health

In the paper

“It can therefore be assumed that the RHOJ gene may be involved in the development of endometriosis.”

In the paper

“The AA genotypes of the rs41308748 polymorphism of the LILRB1 gene and AG rs383369 of the LILRB2 gene predisposed to endometriosis and its progression.”

What the sources say

• Not checked yetcites [193] Mostowska, 2018, The assessment of GWAS—Identified polymorphisms associated with infertility risk in Polish women with endometriosis, Ginekol. Pol. source

In the paper

“In a study on coupling analysis conducted on thousands of families burdened with endometriosis (GWAS–genome-wide association study) from different populations, a number of potential regions associated with the inheritance of this disease were indicated.”

In the paper

“Overexpression of the RHOJ gene has been shown in ectopic endometrium [191].”

What the sources say

• Not checked yetcites [191] Savaris, 2008, Endometrial gene expression in early pregnancy: Lessons from human ectopic pregnancy, Reprod. Sci. source

In the paper

“Of lesser importance in the mentioned populations was the loci of chromosome 1p36 previously announced by Japanese studies [180].”

What the sources say

• Not checked yetcites [180] Uno, 2010, A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese, Nat. Genet. source

In the paper

“The work of another team of Polish researchers showed the relationship of polymorphisms rs12700667 and rs4141819 of the RAF gene with infertility in women with advanced endometriosis [193].”

What the sources say

• Not checked yetcites [193] Mostowska, 2018, The assessment of GWAS—Identified polymorphisms associated with infertility risk in Polish women with endometriosis, Ginekol. Pol. source

In the paper

“The important role of the WNT4, CDKN2BAS and FN1 genes was confirmed by the research of the team of Pagliardini et al. [184].”

What the sources say

• Not checked yetcites [184] Pagliardini, 2013, An Italian association study and meta-analysis with previous GWAS confirm WNT4, CDKN2BAS and FN1 as the first identified susceptibility loci for endometriosis, J. Med. Genet. source

In the paper

“Expression of HLA-G molecules in the ectopic endometrium has been demonstrated.”

What the sources say

• Not checked yetcites [192] Malejczyk, 2018, The impact of HLA-G, LILRB1 and LILRB2 gene polymorphisms on susceptibility to and severity of endometriosis, Mol. Genet. Genom. source

In the paper

“The second variant is located near the WNT4gene, which is involved in hormone metabolism and the development and functioning of the woman’s genital tract.”

What the sources say

• Not checked yetcites [183] Nyholt, 2012, Genome-wide association meta-analysis identifies new endometriosis risk loci, Nat. Genet. source

In the paper

“Literature data indicate that studies draw attention to the significant role of estrogen receptor genes, especially the ESR2 gene and the CYP19A1 gene for the susceptibility and occurrence of endometriosis [199,200,201].”

What the sources say

• Not checked yetcites [199] Szaflik, 2020, An Analysis of ESR2 and CYP19A1 Gene Expression Levels in Women with Endometriosis, In Vivo source
• Not checked yetcites [200] Szaflik, 2020, Polymorphisms in the 3′UTR Region of ESR2 and CYP19A1 Genes in Women with Endometriosis, Eur. J. Obstet. Gynecol. Reprod. Biol. source
• Not checked yetcites [201] Smolarz, 2020, Polymorphisms in the 3′ UTR Region of ESR2 and CYP19A1 Genes and Its Influence on Allele-Specific Gene Expression in Endometriosis, Dis. Markers source

In the paper

“Most of the variants described in the context of changes in drug metabolism were found to have no effect on the risk of endometriosis.”

What the sources say

• Not checked yetcites [197] Mear, 2020, Polymorphisms and endometriosis: A systematic review and meta-analyses, Hum. Reprod. Update source

In the paper

“The presence of glutathione transferase polymorphisms combined with significant dioxin exposure was associated with the development of endometriosis [197].”

What the sources say

• Not checked yetcites [197] Mear, 2020, Polymorphisms and endometriosis: A systematic review and meta-analyses, Hum. Reprod. Update source

In the paper

“In the studied group of women with endometriosis, a significant increase in the expression of the ESR2 gene was found, which may indicate the participation of this factor in the pathogenesis of endometriosis [200].”

What the sources say

• Not checked yetcites [200] Szaflik, 2020, Polymorphisms in the 3′UTR Region of ESR2 and CYP19A1 Genes in Women with Endometriosis, Eur. J. Obstet. Gynecol. Reprod. Biol. source

In the paper

“Many years of GWAS molecular studies have resulted in the selection of several candidate genes as potential markers of endometriosis [195].”

What the sources say

• Not checked yetcites [195] Rahmioglu, 2015, Genetics of endometriosis, Womens Health

In the paper

“The study identified statistically significant correlations between the new, previously unseen, two SNPs and endometriosis: rs4986938 and rs928554 [200,202].”

What the sources say

• Not checked yetcites [200] Szaflik, 2020, Polymorphisms in the 3′UTR Region of ESR2 and CYP19A1 Genes in Women with Endometriosis, Eur. J. Obstet. Gynecol. Reprod. Biol. source
• Not checked yetcites [202] Smolarz, 2021, Association between single nucleotide polymorphism of the CYP19A1 and ESR2 genes and endometriosis, Arch. Gynecol. Obstet. source

In the paper

“Some of these mutations have previously been described as mutations that have an initiating effect on the formation of tumors.”

What the sources say

• Not checked yetcites [203] Zondervan, 2020, Endometriosis, N. Engl. J. Med. source

In the paper

“The few polymorphisms associated with this disease include rs12248560 and rs4244285 that alter the expression of CYP2C19, which is involved in the breakdown of estrogens and xenobiotics.”

What the sources say

• Not checked yetcites [197] Mear, 2020, Polymorphisms and endometriosis: A systematic review and meta-analyses, Hum. Reprod. Update source

In the paper

“Analyzing samples taken from DIE patients with the help of next generation sequencing (NGS), it was possible to describe 51 new mutations involving a large group of proto-oncogenes.”

What the sources say

• Not checked yetcites [203] Zondervan, 2020, Endometriosis, N. Engl. J. Med. source

In the paper

“The occurrence of de novo mutations in both the endometrial cyst epithelial and peritoneal foci as well as in DIE foci is described.”

What the sources say

• Not checked yetcites [203] Zondervan, 2020, Endometriosis, N. Engl. J. Med. source
• Not checked yetcites [204] Redwine, 2020, Regarding “Should Genetics Now Be Considered the Pre-eminent Etiologic Factor in Endometriosis?”, J. Minim. Invasive Gynecol. source

In the paper

“A recently published meta-analysis showed that in addition to the above-mentioned variants, gene variants for interferon γ (IFNG CA repeat) and variants of rs16826658 and rs2235529 of the WNT4 gene may be relevant.”

What the sources say

• Not checked yetcites [198] Bulun, 2012, Role of estrogen receptor-β in endometriosis, Semin. Reprod. Med. source

In the paper

“In the studied group of women with endometriosis, a significant increase in the expression of the ESR2 gene was found, which may indicate the participation of this factor in the pathogenesis of endometriosis [200].”

What the sources say

• Not checked yetcites [200] Szaflik, 2020, Polymorphisms in the 3′UTR Region of ESR2 and CYP19A1 Genes in Women with Endometriosis, Eur. J. Obstet. Gynecol. Reprod. Biol. source

In the paper

“Genetic contribution appears to be particularly large in more serious forms of the disease.”

What the sources say

• Not checked yetcites [195] Rahmioglu, 2015, Genetics of endometriosis, Womens Health

In the paper

“The most frequently noted genes are: ARID1A, KRAS, PIK3CA and PPP2R1A [203,204].”

What the sources say

• Not checked yetcites [203] Zondervan, 2020, Endometriosis, N. Engl. J. Med. source
• Not checked yetcites [204] Redwine, 2020, Regarding “Should Genetics Now Be Considered the Pre-eminent Etiologic Factor in Endometriosis?”, J. Minim. Invasive Gynecol. source

In the paper

“Other significant changes concern the deletion variant of the glutathione transferase (GSTM1) gene and the glutathione transferase (GSTP1) variant rs1695, which as phase II detoxification enzymes participate in the final removal of drugs and toxins.”

What the sources say

• Not checked yetcites [197] Mear, 2020, Polymorphisms and endometriosis: A systematic review and meta-analyses, Hum. Reprod. Update source

In the paper

“The ERβ receptor encoded by the ESR2 gene is the dominant isoform in those with endometriosis [198].”

What the sources say

• Not checked yetcites [198] Bulun, 2012, Role of estrogen receptor-β in endometriosis, Semin. Reprod. Med. source