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Article Open Access

Co-existence of endometriosis with 13 non-gynecological co-morbidities: Mutation analysis by whole exome sequencing

  • Authors:
    • Charoula Matalliotaki
    • Michail Matalliotakis
    • Maria I. Zervou
    • Alexandra Trivli
    • Ioannis Matalliotakis
    • George Mavromatidis
    • Demetrios A. Spandidos
    • Hans M. Albertsen
    • Rakesh Chettier
    • Kenneth Ward
    • George N. Goulielmos
  • View Affiliations / Copyright

    Affiliations: 3rd Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Thessaloniki 54124, Greece, Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of Medicine, University of Crete, Heraklion 71003, Greece, Department of Obstetrics and Gynecology, Venizeleio General Hospital of Heraklion, Heraklion 71409, Greece, Laboratory of Clinical Virology, Medical School, University of Crete, Heraklion 71003, Greece, Juneau Biosciences, Salt Lake City, UT 84109, USA
    Copyright: © Matalliotaki et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 5053-5057
    |
    Published online on: October 1, 2018
       https://doi.org/10.3892/mmr.2018.9521
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Abstract

Endometriosis is an enigmatic condition with an unknown etiology and poorly understood pathogenesis and women with endometriosis represent a high-risk population group for a large category of chronic conditions. The study focused on a 67-year-old woman who presented with a 40-year history of familial endometriosis associated with various non-gynecological co-morbidities, thus representing a unique case from a cohort of 1,000 patients with endometriosis. Her family history included infertile members suffering from endometriosis. Thirteen non-gynecological co-morbidities were documented throughout the years, including five autoimmune diseases (i.e., systemic lupus erythematosus, ankylosing spondylitis, multiple sclerosis, bronchial asthma and Crohn's disease), urinary bladder diverticulum, osteoporosis, multinodular goiter, cardiovascular diseases, gastroesophageal reflux disease, malignant tumor of urinary bladder, Barrett's esophagus and bilateral cataract. In order to understand the potential role of gene mutations in the development of all those co-morbidities, whole exome sequencing was performed and the presence of various disease-associated, potentially causal missense variants, were observed. These findings are in accordance with the previously suggested common underlying etiologic pathway for some, but not all, autoimmune disorders. This unusual case provides novel insights demonstrating that endometriosis can coexist with various chronic autoimmune diseases and other conditions, including non-gynecological malignancies, which possibly share a common genetic cause, a fact that should be taken into consideration seriously by clinicians.
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1 

Halis G and Arici A: Endometriosis and inflammation in infertility. Ann N Y Acad Sci. 1034:300–315. 2004. View Article : Google Scholar : PubMed/NCBI

2 

Sapkota Y, Steinthorsdottir V, Morris AP, Fassbender A, Rahmioglu N, De Vivo I, Buring JE, Zhang F, Edwards TL, Jones S, et al: iPSYCH-SSI-Broad Group: Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. Nat Commun. 8:155392017.10.1038/ncomms15539. View Article : Google Scholar : PubMed/NCBI

3 

Choi EJ, Cho SB, Lee SR, Lim YM, Jeong K, Moon H-S and Chung H: Comorbidity of gynecological and non-gynecological diseases with adenomyosis and endometriosis. Obstet Gynecol Sci. 60:579–586. 2017. View Article : Google Scholar : PubMed/NCBI

4 

Alviggi C, Carrieri PB, Pivonello R, Scarano V, Pezzella M, De Placido G, Colao A and Matarese G: Association of pelvic endometriosis with alopecia universalis, autoimmune thyroiditis and multiple sclerosis. J Endocrinol Invest. 29:182–189. 2006. View Article : Google Scholar : PubMed/NCBI

5 

Pasoto SG, Abrao MS, Viana VST, Bueno C, Leon EP and Bonfa E: Endometriosis and systemic lupus erythematosus: A comparative evaluation of clinical manifestations and serological autoimmune phenomena. Am J Reprod Immunol. 53:85–93. 2005. View Article : Google Scholar : PubMed/NCBI

6 

Matalliotakis M, Zervou MI, Matalliotaki C, Arici A, Spandidos DA, Matalliotakis I and Goulielmos GN: Genetic association study in a three-generation family with seven members with endometriosis. Mol Med Rep. 16:6077–6080. 2017. View Article : Google Scholar : PubMed/NCBI

7 

Criswell LA, Pfeiffer KA, Lum RF, Gonzales B, Novitzke J, Kern M, Moser KL, Begovich AB, Carlton VE, Li W, et al: Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: The PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet. 76:561–571. 2005. View Article : Google Scholar : PubMed/NCBI

8 

Australo-Anglo-American Spondyloarthritis Consortium (TASC), . Reveille JD, Sims AM, Danoy P, Evans DM, Leo P, Pointon JJ, Jin R, Zhou X and Bradbury LA: Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat Genet. Jan 10–2010.(Epub ahead of print). doi: 10.1038/ng.513. View Article : Google Scholar : PubMed/NCBI

9 

Franke A, McGovern DP, Barrett JC, Wang K, Radford-Smith GL, Ahmad T, Lees CW, Balschun T, Lee J, Roberts R, et al: Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet. 42:1118–1125. 2010. View Article : Google Scholar : PubMed/NCBI

10 

Tong M, McHardy I, Ruegger P, Goudarzi M, Kashyap PC, Haritunians T, Li X, Graeber TG, Schwager E, Huttenhower C, et al: Reprograming of gut microbiome energy metabolism by the FUT2 Crohn's disease risk polymorphism. ISME J. 8:2193–2206. 2014. View Article : Google Scholar : PubMed/NCBI

11 

Palmieri O, Bossa F, Valvano MR, Corritore G, Latiano T, Martino G, D'Incà R, Cucchiara S, Pastore M, D'Altilia M, et al: Crohn's disease localization displays different predisposing genetic variants. PLoS One. 12:e01688212017. View Article : Google Scholar : PubMed/NCBI

12 

Gross O, Gewies A, Finger K, Schäfer M, Sparwasser T, Peschel C, Förster I and Ruland J: Card9 controls a non-TLR signalling pathway for innate anti-fungal immunity. Nature. 442:Jul 12–2006.(Epub ahead of print). doi: 10.1038/nature04926. View Article : Google Scholar : PubMed/NCBI

13 

Ma Y, Yang Y, Wang F, Wei Q and Qin H: Hippo-YAP signaling pathway: A new paradigm for cancer therapy. Int J Cancer. 137:Jul 22–2014.(Epub ahead of print). doi: 10.1002/ijc.29073.

14 

Xue H, Gao L, Wu Y, Fang W, Wang L, Li C, Li Y, Liang W and Zhang L: The IL-16 gene polymorphisms and the risk of the systemic lupus erythematosus. Clin Chim Acta. 403:Mar 17–2009.(Epub ahead of print). doi: 10.1016/j.cca.2009.03.016. View Article : Google Scholar : PubMed/NCBI

15 

Wu J, Wang Y, Zhang Y and Li L: Association between interleukin-16 polymorphisms and risk of coronary artery disease. DNA Cell Biol. 30:Jan 8–2011.(Epub ahead of print). doi: 10.1089/dna.2010.1145. View Article : Google Scholar

16 

de Maturana EL, Rava M, Anumudu C, Sáez O, Alonso D and Malats N: Bladder cancer genetic susceptibility. A systematic review. Bladder Cancer. 4:215–226. 2018. View Article : Google Scholar : PubMed/NCBI

17 

Bønnelykke K, Sleiman P, Nielsen K, Kreiner-Møller E, Mercader JM, Belgrave D, den Dekker HT, Husby A, Sevelsted A, Faura-Tellez G, et al: A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations. Nat Genet. 46:Nov 17–2013.(Epub ahead of print). doi: 10.1038/ng.2830.

18 

Matalliotakis M, Goulielmos GN, Matalliotaki C, Trivli A, Matalliotakis I and Arici A: Endometriosis in adolescent and young girls: Report on a series of 55 cases. J Pediatr Adolesc Gynecol. 30:May 27–2017.(Epub ahead of print). doi: 10.1016/j.jpag.2017.05.007. View Article : Google Scholar : PubMed/NCBI

19 

Matalliotakis IM, Cakmak H, Fragouli YG, Goumenou AG, Mahutte NG and Arici A: Epidemiological characteristics in women with and without endometriosis in the Yale series. Arch Gynecol Obstet. 277:Oct 9–2007.(Epub ahead of print). doi: 10.1007/s00404-007-0479-1. PubMed/NCBI

20 

Albertsen HM and Ward K: Genes linked to endometriosis by GWAS are integral to cytoskeleton regulation and suggests that mesothelial barrier homeostasis is a factor in the pathogenesis of endometriosis. Reprod Sci. 24:Jul 28–2016.(Epub ahead of print). doi: 10.1177/1933719116660847. PubMed/NCBI

21 

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. View Article : Google Scholar : PubMed/NCBI

22 

Prokofyeva E, Wegener A and Zrenner E: Cataract prevalence and prevention in Europe: A literature review. Acta Ophthalmol. 91:Jun 20–2012.(Epub ahead of print). doi: 10.1111/j.1755-3768.2012.02444.x. PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Matalliotaki C, Matalliotakis M, Zervou MI, Trivli A, Matalliotakis I, Mavromatidis G, Spandidos DA, Albertsen HM, Chettier R, Ward K, Ward K, et al: Co-existence of endometriosis with 13 non-gynecological co-morbidities: Mutation analysis by whole exome sequencing. Mol Med Rep 18: 5053-5057, 2018.
APA
Matalliotaki, C., Matalliotakis, M., Zervou, M.I., Trivli, A., Matalliotakis, I., Mavromatidis, G. ... Goulielmos, G.N. (2018). Co-existence of endometriosis with 13 non-gynecological co-morbidities: Mutation analysis by whole exome sequencing. Molecular Medicine Reports, 18, 5053-5057. https://doi.org/10.3892/mmr.2018.9521
MLA
Matalliotaki, C., Matalliotakis, M., Zervou, M. I., Trivli, A., Matalliotakis, I., Mavromatidis, G., Spandidos, D. A., Albertsen, H. M., Chettier, R., Ward, K., Goulielmos, G. N."Co-existence of endometriosis with 13 non-gynecological co-morbidities: Mutation analysis by whole exome sequencing". Molecular Medicine Reports 18.6 (2018): 5053-5057.
Chicago
Matalliotaki, C., Matalliotakis, M., Zervou, M. I., Trivli, A., Matalliotakis, I., Mavromatidis, G., Spandidos, D. A., Albertsen, H. M., Chettier, R., Ward, K., Goulielmos, G. N."Co-existence of endometriosis with 13 non-gynecological co-morbidities: Mutation analysis by whole exome sequencing". Molecular Medicine Reports 18, no. 6 (2018): 5053-5057. https://doi.org/10.3892/mmr.2018.9521
Copy and paste a formatted citation
x
Spandidos Publications style
Matalliotaki C, Matalliotakis M, Zervou MI, Trivli A, Matalliotakis I, Mavromatidis G, Spandidos DA, Albertsen HM, Chettier R, Ward K, Ward K, et al: Co-existence of endometriosis with 13 non-gynecological co-morbidities: Mutation analysis by whole exome sequencing. Mol Med Rep 18: 5053-5057, 2018.
APA
Matalliotaki, C., Matalliotakis, M., Zervou, M.I., Trivli, A., Matalliotakis, I., Mavromatidis, G. ... Goulielmos, G.N. (2018). Co-existence of endometriosis with 13 non-gynecological co-morbidities: Mutation analysis by whole exome sequencing. Molecular Medicine Reports, 18, 5053-5057. https://doi.org/10.3892/mmr.2018.9521
MLA
Matalliotaki, C., Matalliotakis, M., Zervou, M. I., Trivli, A., Matalliotakis, I., Mavromatidis, G., Spandidos, D. A., Albertsen, H. M., Chettier, R., Ward, K., Goulielmos, G. N."Co-existence of endometriosis with 13 non-gynecological co-morbidities: Mutation analysis by whole exome sequencing". Molecular Medicine Reports 18.6 (2018): 5053-5057.
Chicago
Matalliotaki, C., Matalliotakis, M., Zervou, M. I., Trivli, A., Matalliotakis, I., Mavromatidis, G., Spandidos, D. A., Albertsen, H. M., Chettier, R., Ward, K., Goulielmos, G. N."Co-existence of endometriosis with 13 non-gynecological co-morbidities: Mutation analysis by whole exome sequencing". Molecular Medicine Reports 18, no. 6 (2018): 5053-5057. https://doi.org/10.3892/mmr.2018.9521
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