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Genetic factors associated with the co‑occurrence of endometriosis with antiphospholipid syndrome (Review)

  • Authors:
    • Maria I. Zervou
    • Theoni B. Tarlatzi
    • Demetrios A. Spandidos
    • Basil C. Tarlatzis
    • George Bertsias
    • George N. Goulielmos
  • View Affiliations / Copyright

    Affiliations: Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of Medicine, University of Crete, 71003 Heraklion, Greece, Unit for Human Reproduction, 1st Department of Obstetrics and Gynecology, School of Medicine, Aristotle University of Thessaloniki, 56403 Thessaloniki, Greece, Laboratory of Clinical Virology, School of Medicine, University of Crete, 71003 Heraklion, Greece, Department of Rheumatology and Clinical Immunology, School of Medicine, University of Crete, 71003 Heraklion, Greece
    Copyright: © Zervou et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 205
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    Published online on: August 22, 2025
       https://doi.org/10.3892/etm.2025.12955
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Abstract

Immune‑related factors may serve an important role in the development of endometriosis, considering the occurrence of substantial abnormalities in the immune system of women with endometriosis, including reduced T‑cell reactivity and natural killer cell cytotoxicity, as well as increased numbers and activation of peritoneal macrophages. Moreover, women suffering from endometriosis are at a higher risk for developing various autoimmune diseases as comorbidities of endometriosis. Recent epidemiological data demonstrate that patients with endometriosis have a significantly higher risk (2.84‑fold) of developing subsequent antiphospholipid syndrome (APS) compared with women without endometriosis. These data pose a question about the putative role of a shared genetic background affecting the co‑occurrence of these two disorders. Endometriosis is a chronic, complex, inflammatory, estrogen‑dependent and progressive gynecological disorder, with an incidence of up to 10% in women of reproductive age, characterized by the growth of endometrial tissue outside the uterine cavity. APS is a systemic autoimmune disorder characterized by the development of thrombotic and/or obstetric complications in the presence of specific types of antibodies, including antiphospholipid antibodies. The present review aims to delineate the genetic basis of the co‑occurrence of endometriosis with APS by systematically searching the literature for genes involved in the development of both conditions, with the goal to clarify the underlying shared molecular and pathogenetic mechanisms. This information may contribute to the identification of putative novel therapeutic targets for pharmaceutical intervention in both disorders and the classification of patients with endometriosis in a subgroup with a possibility of developing subsequent APS.
View Figures

Figure 1

Genetic risk factors associated with
endometriosis or APS, classified into major distinct mechanistic
pathways. Both diseases are classified into major distinct
mechanistic pathways. Pathways involving shared genetic loci
related to endometriosis-APS co-occurrence are also presented,
associated with inflammation, immune system dysregulation,
interferon pathways and signaling, thrombosis and metabolism. The
figure was partially created with BioRender.com and adapted from Zervou et al
(9). APS, antiphospholipid
syndrome.
View References

1 

Sinaii N, Cleary SD, Ballweg ML, Nieman LK and Stratton P: High rates of autoimmune and endocrine disorders, fibromyalgia, chronic fatigue syndrome and atopic diseases among women with endometriosis: a survey analysis. Hum Reprod. 17:2715–2724. 2002.PubMed/NCBI View Article : Google Scholar

2 

Kvaskoff M, Mu F, Terry KL, Harris HR, Poole EM, Farland L and Missmer SA: Endometriosis: A high-risk population for major chronic diseases? Hum Reprod Update. 21:500–516. 2015.PubMed/NCBI View Article : Google Scholar

3 

Rafi U, Ahmad S, Bokhari SS, Iqbal MA, Zia A, Khan MA and Roohi N: Association of inflammatory markers/cytokines with cardiovascular risk manifestation in patients with endometriosis. Mediators Inflamm. 2021(3425560)2021.PubMed/NCBI View Article : Google Scholar

4 

Surrey ES, Soliman AM, Johnson SJ, Davis M, Castelli-Haley J and Snabes MC: Risk of developing comorbidities among women with endometriosis: A retrospective matched cohort study. J Women's Health (Larchmt). 27:1114–1123. 2018.PubMed/NCBI View Article : Google Scholar

5 

Shigesi N, Kvaskoff M, Kirtley S, Feng Q, Fang H, Knight JC, Missmer SA, Rahmioglu N, Zondervan KT and Becker CM: The association between endometriosis and autoimmune diseases: A systematic review and meta-analysis. Hum Reprod Update. 25:486–503. 2019.PubMed/NCBI View Article : Google Scholar

6 

Yin Z, Low HY, Chen BS, Huang KS, Zhang Y, Wang YH, Ye Z and Wei JCC: Risk of ankylosing spondylitis in patients with endometriosis: A population-based retrospective cohort study. Front Immunol. 13(877942)2022.PubMed/NCBI View Article : Google Scholar

7 

Zervou MI, Vlachakis D, Papageorgiou L, Eliopoulos E and Goulielmos GN: Increased risk of rheumatoid arthritis in patients with endometriosis: Genetic aspects. Rheumatology (Oxford). 61:4252–4262. 2022.PubMed/NCBI View Article : Google Scholar

8 

Zervou MI, Papageorgiou L, Vlachakis D, Spandidos DA, Eliopoulos E and Goulielmos GN: Genetic factors involved in the co-occurrence of endometriosis with ankylosing spondylitis (review). Mol Med Rep. 27(96)2023.PubMed/NCBI View Article : Google Scholar

9 

Zervou MI, Tarlatzis BC, Grimbizis GF, Spandidos DA, Niewold TB and Goulielmos GN: Association of endometriosis with Sjögren's syndrome: Genetic insights (review). Int J Mol Med. 53(20)2024.PubMed/NCBI View Article : Google Scholar

10 

As-Sanie S, Mackenzie SC, Morrison L, Schrepf A, Zondervan KT, Horne AW and Missmer SA: Endometriosis: A review. JAMA. 334:64–78. 2025.PubMed/NCBI View Article : Google Scholar

11 

Symons LK, Miller JE, Kay VR, Marks RM, Liblik K, Koti M and Tayade C: The immunopathophysiology of endometriosis. Trends Mol Med. 24:748–762. 2018.PubMed/NCBI View Article : Google Scholar

12 

Zondervan KT, Becker CM, Koga K, Missmer SA, Taylor RN and Viganò P: Endometriosis. Nat Rev Dis Primers. 4(9)2018.PubMed/NCBI View Article : Google Scholar

13 

Abramiuk M, Grywalska E, Małkowska P, Sierawska O, Hrynkiewicz R and Niedźwiedzka-Rystwej P: The role of the immune system in the development of endometriosis. Cells. 11(2028)2022.PubMed/NCBI View Article : Google Scholar

14 

Eisenberg VH, Zolti M and Soriano D: Is there an association between autoimmunity and endometriosis? Autoimmun Rev. 11:806–814. 2012.PubMed/NCBI View Article : Google Scholar

15 

Lebovic DI, Mueller MD and Taylor RN: Immunobiology of endometriosis. Fertil Steril. 75:1–10. 2001.PubMed/NCBI View Article : Google Scholar

16 

Matarese G, De Placido G, Nikas Y and Alviggi C: Pathogenesis of endometriosis: Natural immunity dysfunction or autoimmune disease? Trends Mol Med. 9:223–228. 2003.PubMed/NCBI View Article : Google Scholar

17 

Chen Z, Cui R, Wang SI, Zhang H, Chen M, Wang Q, Tong Q, Wei JCC and Dai SM: Increased risk of subsequent antiphospholipid syndrome in patients with endometriosis. Int J Epidemiol. 54(dyae167)2024.PubMed/NCBI View Article : Google Scholar

18 

Clark KEN and Giles I: Antiphospholipid syndrome. Medicine. 46:118–125. 2018.

19 

Sciascia S, Amigo MC, Roccatello D and Khamashta M: Diagnosing antiphospholipid syndrome: ‘Extra-criteria’ manifestations and technical advances. Nat Rev Rheumatol. 13:548–560. 2017.PubMed/NCBI View Article : Google Scholar

20 

Rodríguez-García V, Ioannou Y, Fernández-Nebro A, Isenberg DA and Giles IP: Examining the prevalence of non-criteria anti-phospholipid antibodies in patients with anti-phospholipid syndrome: A systematic review. Rheumatology (Oxford). 54:2042–2050. 2015.PubMed/NCBI View Article : Google Scholar

21 

Celia AI, Galli M, Mancuso S, Alessandri C, Frati G, Sciarretta S and Conti F: Antiphospholipid syndrome: Insights into molecular mechanisms and clinical manifestations. J Clin Med. 13(4191)2024.PubMed/NCBI View Article : Google Scholar

22 

Ravindran V, Rajendran S and Elias G: Primary antiphospholipid syndrome in monozygotic twins. Lupus. 22:92–94. 2013.PubMed/NCBI View Article : Google Scholar

23 

Lopez-Pedrera C, Barbarroja N, Patiño-Trives AM, Collantes E, Aguirre MA and Perez-Sanchez C: New biomarkers for atherothrombosis in antiphospholipid syndrome: Genomics and epigenetics approaches. Front Immunol. 10(764)2019.PubMed/NCBI View Article : Google Scholar

24 

Zubrzycka A, Zubrzycki M, Perdas E and Zubrzycka M: Genetic, epigenetic, and steroidogenic modulation mechanisms in endometriosis. J Clin Med. 9(1309)2020.PubMed/NCBI View Article : Google Scholar

25 

Barinotti A, Radin M, Cecchi I, Foddai SG, Rubini E, Roccatello D, Sciascia S and Menegatti E: Genetic factors in antiphospholipid syndrome: Preliminary experience with whole exome sequencing. Int J Mol Sci. 21(9551)2020.PubMed/NCBI View Article : Google Scholar

26 

Gómez-Puerta JA and Cervera R: Diagnosis and classification of the antiphospholipid syndrome. J Autoimmun. 48-49:20–25. 2014.PubMed/NCBI View Article : Google Scholar

27 

Zervou MI, Matalliotakis M and Goulielmos GN: Comment on ‘Risk of systemic lupus erythematosus in patients with endometriosis: A nationwide population-based cohort study’. Arch Gynecol Obstet. 305:543–544. 2022.PubMed/NCBI View Article : Google Scholar

28 

Goulielmos GN, Tarlatzi TB, Grimbizis GF, Spandidos DA, Niewold TB, Bertsias G, Tarlatzis BC and Zervou MI: Co-occurrence of endometriosis with psoriasis and psoriatic arthritis: Genetic insights (review). Exp Ther Med. 30(171)2025.PubMed/NCBI View Article : Google Scholar

29 

Domenico Sebastiani G, Minisola G and Galeazzi M: HLA class II alleles and genetic predisposition to the antiphospholipid syndrome. Autoimmun Rev. 2:387–394. 2003.PubMed/NCBI View Article : Google Scholar

30 

Ishii K, Takakuwa K, Kashima K, Tamura M and Tanaka K: Associations between patients with endometriosis and HLA class II; the analysis of HLA-DQB1 and HLA-DPB1 genotypes. Hum Reprod. 18:985–989. 2003.PubMed/NCBI View Article : Google Scholar

31 

Zong L, Pan D, Chen W, He Y, Liu Z, Lin J and Xu A: Comparative study of HLA-DQA1 and HLA-DRB1 allele in patients with endometriosis and adenomyosis. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 19:49–51. 2002.PubMed/NCBI(In Chinese).

32 

Bedaiwy MA, Falcone T and Casper RF: Plasminogen activator inhibitor (PAI) and thrombin activatable fibrinolysis inhibitor (TAFI) Polymorphisms in women with endometriosis. Fertil Steril. 84 (Suppl 1):S189–S190. 2005.

33 

Aisina RB, Mukhametova LI, Ostryakova EV, Seredavkina NV, Patrushev LI, Patrusheva NL, Reshetnyak TM, Gulin DA, Gershkovich KB, Nasonov EL and Varfolomeyev SD: Polymorphism of the plasminogen activator inhibitor type 1 gene, plasminogen level and thromboses in patients with the antiphospholipid syndrome. Biochem Suppl Ser B Biomed Chem. 7:1–15. 2013.

34 

Sayfutdinovich KZ, Shakarimovna AD, Rudolfovna KT and Erkinovna ZN: Association of MTHFR and MTRR genes with the development of antiphospholipid syndrome in pregnant women of Uzbek population. Eur Sci Rev. 7-8:85–87. 2016.

35 

Delli Carpini G, Giannella L, Di Giuseppe J, Montik N, Montanari M, Fichera M, Crescenzi D, Marzocchini C, Meccariello ML, Di Biase D, et al: Homozygous C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism as a risk factor for endometriosis: A retrospective case-control study. Int J Mol Sci. 24(15404)2023.PubMed/NCBI View Article : Google Scholar

36 

Bianco B, Fernandes RFM, Trevisan CM, Christofolini DM, Sanz-Lomana CM, de Bernabe JV and Barbosa CP: Influence of STAT4 gene polymorphisms in the pathogenesis of endometriosis. Ann Hum Genet. 83:249–255. 2019.PubMed/NCBI View Article : Google Scholar

37 

Horita T, Atsumi T, Yoshida N, Nakagawa H, Kataoka H, Yasuda S and Koike T: STAT4 single nucleotide polymorphism, rs7574865 G/T, as a risk for antiphospholipid syndrome. Ann Rheum Dis. 68:1366–1367. 2009.PubMed/NCBI View Article : Google Scholar

38 

Latha M, Vaidya S, Movva S, Chava S, Govindan S, Govatati S, Banoori M, Hasan Q and Kodati VL: Molecular pathogenesis of endometriosis; Toll-like receptor-4 A896G (D299G) polymorphism: A novel explanation. Genet Test Mol Biomarkers. 15:181–184. 2011.PubMed/NCBI View Article : Google Scholar

39 

Pierangeli SS, Vega-Ostertag ME, Raschi E, Liu X, Romay-Penabad Z, De Micheli V, Galli M, Moia M, Tincani A, Borghi MO, et al: Toll-like receptor and antiphospholipid mediated thrombosis: In vivo studies. Ann Rheum Dis. 66:1327–1333. 2007.PubMed/NCBI View Article : Google Scholar

40 

Carey BS, Poulton KV and Poles A: Factors affecting HLA expression: A review. Int J Immunogenet. 46:307–320. 2019.PubMed/NCBI View Article : Google Scholar

41 

Ali AM, Nader MI, Al-Ghurabi BH and Mohammed AK: Association of HLA class II alleles (DRB1 and DQB1) in Iraqi women with endometriosis. Iraqi J Biotechnol. 15:42–50. 2016.

42 

Ioannidis JP, Tektonidou MG, Vlachoyiannopoulos PG, Stavropoulos-Giokas C, Spyropoulou-Vlachou M, Reveille JD, Arnett FC and Moutsopoulos HM: HLA associations of anti-beta2 glycoprotein I response in a Greek cohort with antiphospholipid syndrome and meta-analysis of four ethnic groups. Hum Immunol. 60:1274–1280. 1999.PubMed/NCBI View Article : Google Scholar

43 

Mansilha A, Araújo F, Severo M, Sampaio SM, Toledo T, Henriques I and Albuquerque R: The association between the 4G/5G polymorphism in the promoter of the plasminogen activator inhibitor-1 gene and deep venous thrombosis in young people. Phlebology. 20:48–52. 2005.

44 

Dossenbach-Glaninger A, van Trotsenburg M, Dossenbach M, Oberkanins C, Moritz A, Krugluger W, Huber J and Hopmeier P: Plasminogen activator inhibitor 1 4G/5G polymorphism and coagulation factor XIII Val34Leu polymorphism: Impaired fibrinolysis and early pregnancy loss. Clin Chem. 49:1081–1086. 2003.PubMed/NCBI View Article : Google Scholar

45 

Islam MA, Khandker SS, Alam F, Kamal MA and Gan SH: Genetic risk factors in thrombotic primary antiphospholipid syndrome: A systematic review with bioinformatic analyses. Autoimmun Rev. 17:226–243. 2018.PubMed/NCBI View Article : Google Scholar

46 

Raghubeer S and Matsha TE: Methylenetetrahydrofolate (MTHFR), the one-carbon cycle, and cardiovascular risks. Nutrients. 13(4562)2021.PubMed/NCBI View Article : Google Scholar

47 

Guedes T, Santos AA, Vieira-Neto FH, Bianco B, Barbosa CP and Christofolini DM: Folate metabolism abnormalities in infertile patients with endometriosis. Biomark Med. 16:549–557. 2022.PubMed/NCBI View Article : Google Scholar

48 

Luo Z, Lu Z, Muhammad C, Chen Y, Chen Q, Zhang J and Song Y: Associations of the MTHFR rs1801133 polymorphism with coronary artery disease and lipid levels: A systematic review and updated meta-analysis. Lipids Health Dis. 17(191)2018.PubMed/NCBI View Article : Google Scholar

49 

Wu S, Wang M, Wang Y, Zhang M and He JQ: Polymorphisms of the STAT4 gene in the pathogenesis of tuberculosis. Biosci Rep. 38(BSR20180498)2018.PubMed/NCBI View Article : Google Scholar

50 

Korman BD, Kastner DL, Gregersen PK and Remmers EF: STAT4: Genetics, mechanisms, and implications for autoimmunity. Curr Allergy Asthma Rep. 8:398–403. 2008.PubMed/NCBI View Article : Google Scholar

51 

Liang YL, Wu H, Shen X, Li PQ, Yang XQ, Liang L, Tian WH, Zhang LF and Xie XD: Association of STAT4 rs7574865 polymorphism with autoimmune diseases: A meta-analysis. Mol Biol Rep. 39:8873–8882. 2012.PubMed/NCBI View Article : Google Scholar

52 

Bravo-Villagra KM, Muñoz-Valle JF, Baños-Hernández CJ, Cerpa-Cruz S, Navarro-Zarza JE, Parra-Rojas I, Aguilar-Velázquez JA, García-Arellano S and López-Quintero A: STAT4 gene variant rs7574865 is associated with rheumatoid arthritis activity and anti-CCP levels in the western but not in the southern population of Mexico Mexico. Genes (Basel). 15(241)2024.PubMed/NCBI View Article : Google Scholar

53 

Podgaec S, Dias Junior JA, Chapron C, de Oliveira RM, Baracat EC and Abrão MS: Th1 and Th2 ummune responses related to pelvic endometriosis. Assoc Med Bras (1992). 56:92–98. 2010.PubMed/NCBI View Article : Google Scholar

54 

Medzhitov R and Janeway C Jr: Innate immunity. N Engl J Med. 343:338–344. 2000.PubMed/NCBI View Article : Google Scholar

55 

Ozato K, Tsujimura H and Tamura T: Toll-like receptor signaling and regulation of cytokine gene expression in the immune system. BioTechniques. 33 (Suppl):S66–S75. 2002.PubMed/NCBI

56 

Poltorak A, Smirnova I, He X, Liu MY, Van Huffel C, McNally O, Birdwell D, Alejos E, Silva M, Du X, et al: Genetic and physical mapping of the Lps locus: Identification of the toll-4 receptor as a candidate gene in the critical region. Blood Cells Mol Dis. 24:340–355. 1998.PubMed/NCBI View Article : Google Scholar

57 

Akira S, Uematsu S and Takeuchi O: Pathogen recognition and innate immunity. Cell. 124:783–801. 2006.PubMed/NCBI View Article : Google Scholar

58 

Kim HJ, Kim H, Lee JH and Hwangbo C: Toll-like receptor 4 (TLR4): New insight immune and aging. Immun Ageing. 20(67)2023.PubMed/NCBI View Article : Google Scholar

59 

Yamakawa N, Ohto U, Akashi-Takamura S, Takahashi K, Saitoh S, Tanimura N, Suganami T, Ogawa Y, Shibata T, Shimizu T and Miyake K: Human TLR4 polymorphism D299G/T399I alters TLR4/MD-2 conformation and response to a weak ligand monophosphoryl lipid A. Int Immunol. 25:45–52. 2013.PubMed/NCBI View Article : Google Scholar

60 

Khan KN, Kitajima M, Fujishita A, Nakashima M and Masuzaki H: Toll-like receptor system and endometriosis. J Obstet Gynaecol Res. 39:1281–1292. 2013.PubMed/NCBI View Article : Google Scholar

61 

Anwar MA and Choi S: Structure-activity relationship in TLR 4 mutations: Atomistic molecular dynamics simulations and residue interaction network analysis. Sci Rep. 7(43807)2017.PubMed/NCBI View Article : Google Scholar

62 

Benhamou Y, Bellien J, Armengol G, Brakenhielm E, Adriouch S, Iacob M, Remy-Jouet I, Le Cam-Duchez V, Monteil C, Renet S, et al: Role of Toll-like receptors 2 and 4 in mediating endothelial dysfunction and arterial remodeling in primary arterial antiphospholipid syndrome. Arthritis Rheum. 66:3210–3220. 2014.PubMed/NCBI View Article : Google Scholar

63 

Palli E, Kravvariti E and Tektonidou MG: Type I interferon signature in primary antiphospholipid syndrome: Clinical and laboratory associations. Front Immunol. 10(487)2019.PubMed/NCBI View Article : Google Scholar

64 

Tang KT, Chen HH, Chen TT, Bracci NR and Lin CC: Dendritic cells and antiphospholipid syndrome: An updated systematic review. Life (Basel). 11(801)2021.PubMed/NCBI View Article : Google Scholar

65 

Wu XG, Chen JJ, Zhou HL, Wu Y, Lin F, Shi J, Wu HZ, Xiao HQ and Wang W: Identification and validation of the signatures of infiltrating immune cells in the eutopic endometrium endometria of women with endometriosis. Front Immunol. 12(671201)2021.PubMed/NCBI View Article : Google Scholar

66 

Ahn SH, Khalaj K, Young SL, Lessey BA, Koti M and Tayade C: Immune-inflammation gene signatures in endometriosis patients. Fertil Steril. 106:1420–1431.e7. 2016.PubMed/NCBI View Article : Google Scholar

67 

Hubben AK, Bazeley P, Swaidani S, Alarabi A, Kulkarni PP, Shim YJ, Palihati M, Barnard J and Mccrae KR: Cytokine profiling in antiphospholipid syndrome demonstrates persistent immune dysregulation and a procoagulant phenotype. Blood. 142 (Suppl 1)(S5400)2023.

68 

Yan H, Li B, Su R, Gao C, Li X and Wang C: Preliminary study on the imbalance between Th17 and regulatory T cells in antiphospholipid syndrome. Front Immunol. 13(873644)2022.PubMed/NCBI View Article : Google Scholar

69 

Llarena NC, Richards EG, Priyadarshini A, Fletcher D, Bonfield T and Flyckt RL: Characterizing the endometrial fluid cytokine profile in women with endometriosis. J Assist Reprod Genet. 37:2999–3006. 2020.PubMed/NCBI View Article : Google Scholar

70 

Oală IE, Mitranovici MI, Chiorean DM, Irimia T, Crișan AI, Melinte IM, Cotruș T, Tudorache V, Moraru L, Moraru R, et al: Endometriosis and the Role of Pro-Inflammatory and Anti-Inflammatory Cytokines in Pathophysiology: A narrative review of the literature. Diagnostics (Basel). 14(312)2024.PubMed/NCBI View Article : Google Scholar

71 

Papageorgiou L, Andreou A, Zervou M, Vlachakis D, Goulielmos GN and Eliopoulos E: A global population genomic analysis shows novel insights into the genetic characteristics of endometriosis. World Acad Sci J. 5(12)2023.

72 

Goulielmos GN, Matalliotakis M, Matalliotaki C, Eliopoulos E, Matalliotakis I and Zervou MI: Endometriosis research in the-omics era. Gene. 741(144545)2020.PubMed/NCBI View Article : Google Scholar

73 

Zouein J, Naim N, Spencer DM and Ortel TL: Genetic and genomic associations in antiphospholipid syndrome: A systematic review. Autoimmun Rev. 24(103712)2025.PubMed/NCBI View Article : Google Scholar

74 

Murrin O, Mounier N, Voller B, Tata L, Gallego-Moll C, Roso-Llorach A, Carrasco-Ribelles LA, Fox C, Allan LM, Woodward RM, et al: A systematic analysis of the contribution of genetics to multimorbidity and comparisons with primary care data. EBioMedicine. 113(105584)2025.PubMed/NCBI View Article : Google Scholar

75 

Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, Behrens TW, de Bakker PIW, Le JM, Lee HS, Batliwalla F, et al: STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med. 357:977–986. 2007.PubMed/NCBI View Article : Google Scholar

76 

Zhou HY and Yuan M: MTHFR polymorphisms (rs1801133) and systemic lupus erythematosus risk: A meta-analysis. Medicine (Baltimore). 99(e22614)2020.PubMed/NCBI View Article : Google Scholar

77 

Chen L, Huang Z, Liao Y, Yang B and Zhang J: Association between tumor necrosis factor polymorphisms and rheumatoid arthritis as well as systemic lupus erythematosus: A meta-analysis. Braz J Med Biol Res. 52(e7927)2019.PubMed/NCBI View Article : Google Scholar

78 

Zervou MI and Goulielmos GN: Comment on: Enhancing current guidance for psoriatic arthritis and its comorbidities: Recommendations from an expert consensus panel. Rheumatology (Oxford). 64:904–905. 2025.PubMed/NCBI View Article : Google Scholar

79 

Uthman I and Khamashta M: Ethnic and geographical variation in antiphospholipid (Hughes) syndrome. Ann Rheum Dis. 64:1671–1676. 2005.PubMed/NCBI View Article : Google Scholar

80 

Weeding E, Coit P, Yalavarthi S, Kaplan MJ, Knight JS and Sawalha AH: Genome-wide DNA methylation analysis in primary antiphospholipid syndrome neutrophils. Clin Immunol. 196:110–116. 2018.PubMed/NCBI View Article : Google Scholar

81 

López-Pedrera C, Cerdó T, Jury EC, Muñoz-Barrera L, Escudero-Contreras A, Aguirre MA and Pérez-Sánchez C: New advances in genomics and epigenetics in antiphospholipid syndrome. Rheumatology (Oxford). 63 (SI):SI14–SI23. 2024.PubMed/NCBI View Article : Google Scholar

82 

Caporossi L, Capanna S, Viganò P, Alteri A and Papaleo B: From environmental to possible occupational exposure to risk factors: What role do they play in the etiology of endometriosis? Int J Environ Res Public Health. 18(532)2021.PubMed/NCBI View Article : Google Scholar

83 

Matta K, Lefebvre T, Vigneau E, Cariou V, Marchand P, Guitton Y, Royer AL, Ploteau S, Le Bizec B, Antignac JP and Cano-Sancho G: Associations between persistent organic pollutants and endometriosis: A multiblock approach integrating metabolic and cytokine profiling. Environ Int. 158(106926)2022.PubMed/NCBI View Article : Google Scholar

84 

Martirosyan A, Aminov R and Manukyan G: Environmental triggers of autoreactive responses: Induction of antiphospholipid antibody formation. Front Immunol. 10(1609)2019.PubMed/NCBI View Article : Google Scholar

85 

Oskotsky TT, Bhoja A, Bunis D, Le BL, Tang AS, Kosti I, Li C, Houshdaran S, Sen S, Vallvé-Juanico J, et al: Identifying therapeutic candidates for endometriosis through a transcriptomics-based drug repositioning approach. iScience. 27(109388)2024.PubMed/NCBI View Article : Google Scholar

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Copy and paste a formatted citation
Spandidos Publications style
Zervou MI, Tarlatzi TB, Spandidos DA, Tarlatzis BC, Bertsias G and Goulielmos GN: Genetic factors associated with the co‑occurrence of endometriosis with antiphospholipid syndrome (Review). Exp Ther Med 30: 205, 2025.
APA
Zervou, M.I., Tarlatzi, T.B., Spandidos, D.A., Tarlatzis, B.C., Bertsias, G., & Goulielmos, G.N. (2025). Genetic factors associated with the co‑occurrence of endometriosis with antiphospholipid syndrome (Review). Experimental and Therapeutic Medicine, 30, 205. https://doi.org/10.3892/etm.2025.12955
MLA
Zervou, M. I., Tarlatzi, T. B., Spandidos, D. A., Tarlatzis, B. C., Bertsias, G., Goulielmos, G. N."Genetic factors associated with the co‑occurrence of endometriosis with antiphospholipid syndrome (Review)". Experimental and Therapeutic Medicine 30.4 (2025): 205.
Chicago
Zervou, M. I., Tarlatzi, T. B., Spandidos, D. A., Tarlatzis, B. C., Bertsias, G., Goulielmos, G. N."Genetic factors associated with the co‑occurrence of endometriosis with antiphospholipid syndrome (Review)". Experimental and Therapeutic Medicine 30, no. 4 (2025): 205. https://doi.org/10.3892/etm.2025.12955
Copy and paste a formatted citation
x
Spandidos Publications style
Zervou MI, Tarlatzi TB, Spandidos DA, Tarlatzis BC, Bertsias G and Goulielmos GN: Genetic factors associated with the co‑occurrence of endometriosis with antiphospholipid syndrome (Review). Exp Ther Med 30: 205, 2025.
APA
Zervou, M.I., Tarlatzi, T.B., Spandidos, D.A., Tarlatzis, B.C., Bertsias, G., & Goulielmos, G.N. (2025). Genetic factors associated with the co‑occurrence of endometriosis with antiphospholipid syndrome (Review). Experimental and Therapeutic Medicine, 30, 205. https://doi.org/10.3892/etm.2025.12955
MLA
Zervou, M. I., Tarlatzi, T. B., Spandidos, D. A., Tarlatzis, B. C., Bertsias, G., Goulielmos, G. N."Genetic factors associated with the co‑occurrence of endometriosis with antiphospholipid syndrome (Review)". Experimental and Therapeutic Medicine 30.4 (2025): 205.
Chicago
Zervou, M. I., Tarlatzi, T. B., Spandidos, D. A., Tarlatzis, B. C., Bertsias, G., Goulielmos, G. N."Genetic factors associated with the co‑occurrence of endometriosis with antiphospholipid syndrome (Review)". Experimental and Therapeutic Medicine 30, no. 4 (2025): 205. https://doi.org/10.3892/etm.2025.12955
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