Genital prolapse: Genetic aspects


Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

Objective. To analyze the currently available literature data on investigations identifying the genetic predictors of genital prolapse. Material and methods. A systematic review of the published literature on the genetic epidemiology of genital prolapse was carried out. Results. The analysis of the data available in the literature has shown that a change in the expression of a number of genes, as well as some genetic polymorphisms and hereditary diseases associated with connective tissue malformation increase the risk of genital prolapse. However, genital prolapse develops in 50% of women whose genetic predisposition is unknown. Conclusion. Identification of a group at risk for genital prolapse is relevant in practical medicine, which may be favored by further investigations detecting the markers of connective tissue and smooth muscle abnormalities, including those using molecular genetic methods that can estimate changes at the level of exome, genome, and transcriptome.

Full Text

Restricted Access

About the authors

Yana Z. Plieva

Research Center of Obstetrics, Gynecology, and Perinatology

Email: yana-plieva@mail.ru
post-graduate department of operative gynecology

Marina V. Bobkova

Research Center of Obstetrics, Gynecology, and Perinatology

Email: morskoisapflr@rambler.ru
MD, Operativa Gynecology Department

Elena E. Baranova

Russian Medical Academy of Postgraduate Education

Email: baranova.gen@gmail.com
MD, PhD, Junior member of teaching (assistant), Department of the medical genetics

References

  1. Смольнова Т.Ю. Клинико-патогенетические аспекты опущения и выпадения внутренних половых органов и патологии структур тазового комплекса у женщин при дисплазии соединительной ткани: дисс.. д-ра мед. наук. М.; 2009. 291с. [Smolnova T.Yu. Clinico-pathogenetic aspects of descent and prolapse of internal genital organs and structures of the pelvic pathology complex in women with connective tissue dysplasia. Diss. Moscow; 2009. 291p. (in Russian)]
  2. Bump R.C., Mattiasson A., Bø K., BrubakerL.P., DeLancey J.O., Klarskov P. et al. The standartization of terminology of female genital prolapse and pelvic floor disfunction. Am. J. Obstet. Gynecol. 1996; 175(1): 10-7.
  3. Connell K.A., Guess M.K., Chen H., Andikyan V., Bercik R., Taylor H.S. HOXA11 is critical for development and maintenance of uterosacral ligaments and deficient in pelvic prolapse. J. Clin. Invest. 2008;118(3): 1050-5.
  4. Адамян Л.В., Кулаков В.И., Киселев С.В., Сашин Б.Е. Лапаро-вагинальный доступ в хирургическом лечении опущения стенок влагалища, несостоятельности мышц тазового дна и недержания мочи при напряжении у женщин детородного возраста. В кн.: Эндоскопия в диагностике и лечении патологии матки (с курсом эндоскопии): Международный конгресс. М.; 1997: 191-3. [Adamyan L.V., Kulakov V.I., Kiselev S.V., Sashin B.E. Lapar-vaginal access to the surgical treatment of prolapse of the vaginal walls, failure of the pelvic floor muscles and stress urinary incontinence in women of childbearing age. In: Endoscopy in the diagnosis and treatment of uterine pathology (with a course of endoscopy): International Congress. Moscow; 1997: 191-3. (in Russian)]
  5. Краснопольский В.И., Иоселиани М.Н., Рижинашвили И.Д., Слободянюк А.И. Современные аспекты хирургического лечения опущения и выпадения внутренних половых органов женщины. Акушерство и гинекология. 1990; 8: 58-60. [Krasnopolskiy V.I., Ioseliani M.N., Rizhinashvili I.D., Slobodyanyuk A.I. Modern aspects of surgical treatment of descent and prolapse of internal genital organs of women. Akusherstvo i ginekologiya/Obstetrics and gynecology. 1990; 8: 58-60. (in Russian)]
  6. Samuelsson E.C., Victor F.T., Tibblin G., Svardsudd K.F. Signs of genital prolapsed in a Swedish population of women 20 to 59 years of age and possible related factors. Am. J. Obstet. Gynecol. 1999; 180(2, Pt l): 299-305.
  7. Deeb M.E., Awwad J., Yeretzian J.S., Kaspar H.G. Prevalence of reproductive tract infections, genital prolapse, and obesity in a rural community in Lebanon. Bull. World Health Organ. 2003; 81(9): 639-45.
  8. Mawajdeh S.M., Al-Qutob R., Schmidt A. Measuring reproductive morbidity: a community-based approach, Jordan. Health Care Women Int. 2003; 24(7): 635-49.
  9. Scherf C., Morison L., Fiander A., Ekpo G., Walraven G. Epidemiology of pelvic organ prolapse in rural Gambia, West Africa. BJOG. 2002; 109(4): 431-6.
  10. Sewell C.A., Chang E., Sultana C.J. Prevalence of genital prolapse in 3 ethnic groups. J. Reprod. Med. 2007; 52(9): 769-73.
  11. Pierce C.B., Hallock J.L., Blomquist J.L., Handa V.L. Longitudinal changes in pelvic organ support among parous women. Female Pelvic Med. Reconstr. Surg. 2012; 18(4): 227-32.
  12. Ashton-Miller J.A., DeLancey J.O. Functional anatomy of the female pelvic floor. Ann. N. Y. Acad. Sci. 2007; 1101: 266-96.
  13. Смольнова Т.Ю., Адамян Л.В., Сидоров В.В. Особенности микроциркуляции при опущении и выпадении половых органов у женщин репродуктивного возраста. Акушерство и гинекология. 2007; 1: 39-44. [Smolnova T.Yu., Adamyan L.V., Sidorov V.V. Features microcirculation during descent and prolapse of the genital organs of women of reproductive age. Akusherstvo i ginekologiya/Obstetrics and gynecology. 2007; 1: 39-44. (in Russian)]
  14. Boreham M.K., Wai C.Y., Miller R.T., Schaffer J.I., Word R.A. Morphometric properties of the posterior vaginal wall in women with pelvic organ prolapse. Am. J. Obstet. Gynecol. 2002; 187(6): 1501-8.
  15. Carley M.E., Turner R.J., Scott D.E., Alexander J.M. Obstetric history in women with surgically corrected adult urinary incontinence or pelvic organ prolapse. J. Am. Assoc. Gynecol. Laparosc. 1999; 6(1): 85-9.
  16. Mladenovic-Segedi L., Segedi D. Most important etiologic factors in the development of genital prolapsed. Srp. Arh. Celok. Lek. 2010; 138(5-6): 315-8.
  17. Handa V.L., Blomquist J.L., McDermott K.C., Friedman S., Munoz A. Pelvic floor disorders after vaginal birth: effect of episiotomy, perineal laceration, and operative birth. Obstet. Gynecol. 2012; 119(2, Pt 1): 233-9.
  18. Aytan H., Tok E.C., Ertunc D., Yasa O. The effect of episiotomy on pelvic organ prolapse assessed by pelvic organ prolapse quantification system. Eur. J. Obstet. Gynecol. Reprod. Biol. 2014; 173(1): 34-7.
  19. Araco F., Gravante G., Sorge R., De Vita D., Piccione E. Risk evaluation of smoking and age on the occurrence of postoperative erosions after transvaginal mesh repair for pelvic organ prolapses. Int. Urogynecol. J. Pelvic Floor. Dysfunct. 2008; 19(4): 473-9.
  20. Gomman H.M., Nossier S.A., Fotohi E.M., Kholeif A.E. Prevalence and factors associated with genital prolapse: a hospital-based study in Alexandria (Part I). J. Egypt. Public Health Assoc. 2001; 76(5-6): 313-35.
  21. Nikolova G., Lee H., Berkovitz S., Nelson S., Sinsheimer J., Vilain E., Rodríguez L.V. Sequence variant in the laminin y1 (LAMC1) gene associated with familial pelvic organ prolapsed. Hum. Genet. 2007; 120(6): 847-56.
  22. Lince S.L., van Kempen L.C., Vierhout M.E., Kluivers K.B. A systematic review of clinical studies on hereditary factors in pelvic organ prolapse. Int. Urogynecol. J. 2012; 23(10): 1327-36.
  23. Смольнова Т.Ю., Адамян Л.В. Клинико-патогенетические аспекты опущения и выпадения внутренних половых органов при недифференцированных формах дисплазии соединительной ткани. Кубанский научный медицинский вестник. 2009; 6: 69-73. [Smolnova T.Yu., Adamyan L.V. Clinico-pathogenetic aspects of descent and prolapse of internal genital organs in undifferentiated forms of connective tissue dysplasia. Kubanskiy nauchnyiy meditsinskiy vestnik. 2009; 6: 69-73. (in Russian)]
  24. Смольнова Т.Ю. Патогенетическое обоснование выбора метода хирургической коррекции пролапса гениталий у женщин репродуктивного возраста: дисс.. канд. мед. наук. М.; 1999. 165с. [Smolnova T.Yu. Pathogenetic rationale for the choice of the method of surgical correction of genital prolapse in women of reproductive age. Diss. Moscow; 1999. 165p. (in Russian)]
  25. Buchsbaum G.M., Duecy E.E., Kerr L.A., Huang L.S., Guzick D.S. Urinary incontinence in nulliparous women and their parous sisters. Obstet. Gynecol. 2005; 106(6): 1253-8.
  26. Смольнова Т.Ю., Буянова С.Н., Титченко Л.И., Гришин В.Л., Савельев С.В., Яковлева Н.И. Пролапс митрального клапана - как один из фенотипических маркеров генерализованной дисплазии соединительной ткани у женщин с выпадением половых органов. Российские медицинские вести. 2001; 6(3): 41-6. Smolnova T.Yu., Buyanova S.N., Titchenko L.I., Grishin V.L., Savelev S.V., Yakovleva N.I. Mitral valve prolapse - as one of the phenotypic markers of generalized connective tissue dysplasia in women with prolapse of genital organs. Rossiyskie meditsinskie vesti. 2001; 6(3): 41-6. (in Russian)]
  27. Schwarze U., Schievink W., Petty E., Jaff M.R., Babovic-Vuksanovic D., Cherry K.J. et al. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. Am. J. Hum. Genet. 2001; 69(5): 989-1001.
  28. Смольнова Т.Ю., Адамян Л.В. Фенотип и его взаимосвязь с клиническими проявлениями у женщин, определяемыми функциональными и патофизиологическими особенностями сердечно-сосудистой системы при дисплазии соединительной ткани. Справочник врача общей практики. 2014; 10: 52-8. [Smolnova T.Yu., Adamyan L.V. Phenotype and its relationship with clinical manifestations in women, defined functional and pathophysiological characteristics of the cardiovascular system in connective tissue dysplasia. Spravochnik vracha obschey praktiki. 2014; 10: 52-8. (in Russian)]
  29. Carley M.E., Schaffer J. Urinary incontinence and pelvic organ prolapse in women with Marfan or Ehlers Danlos syndrome. Am. J. Obstet. Gynecol. 2000; 182(5): 1021-3.
  30. Комитет экспертов Всероссийского научного общества кардиологов. Наследственные нарушения соединительной ткани. Российские рекомендации. Кардиоваскулярная терапия и профилактика. 2009; 8(6, приложение 5): 2-24. [The Committee of Experts of the All-Russian Scientific Society of Cardiology. Hereditary disorders of connective tissue. Russian recommendations. Cardiovascular therapy and prevention. 2009; 8 (6, Annex 5): 2-24. (in Russian)]
  31. Ящук А.Г. Медико-генетическое прогнозирование десценции тазового дна у женщин уральского региона. Казанский медицинский журнал. 2008; 89(2): 169-73. [Yashchuk A.G. Medical and genetic prediction destsentsii pelvic floor in women Ural region. Kazanskiy meditsinskiy zhurnal. 2008; 89(2): 169-73. (in Russian)]
  32. Ward R.M., Velez Edwards D.R., Edwards T., Giri A., Jerome R.N., Wu J.M. Genetic epidemiology of pelvic organ prolapse: a systematic review. Am. J. Obstet. Gynecol. 2014; 211(4): 326-35.
  33. Rodrigues A.M., Girdo M.J., da Silva I.D., Sartori M.G., Martins Kde E., Castro Rde A. COL1A1 Sp1-binding site polymorphism as a risk factor for genital prolapse. Int. Urogynecol. J. Pelvic Floor Dysfunct. 2008; 19(11): 1471-5.
  34. Ильина И.Ю., Доброхотова Ю.Э., Жданова М.С. Влияние дисплазии соединительной ткани на развитие пролапса гениталий. Российский вестник акушера-гинеколога. 2009; 9(4): 15-8. [Ilina I.Yu., Dobrohotova Yu.E., Zhdanova M.S. Effect of connective tissue dysplasia on the development of genital prolapse. Rossiyskiy vestnik akushera-ginekologa. 2009; 9(4): 15-8. (in Russian)]
  35. Громова О.А., Торшин И.Ю. Дисплазия соединительной ткани, клеточная биология и молекулярные механизмы воздействия магния. Русский медицинский журнал. 2008; 16(4): 230-9. Gromova O.A., Torshin I.Yu. Dysplasia of connective tissue, cell biology and molecular mechanisms of effects of magnesium. Russkiy meditsinskiy zhurnal. 2008; 16(4): 230-9. (in Russian)]
  36. Drewes P.G., Yanagisawa H., Starcher B., Hornstra I., Csiszar K., Marinis S.I. et al. Pelvic organ prolapse in fibulin-5 knockout mice: pregnancy-induced changes in elastic fiber homeostasis in mouse vagina. Am. J. Pathol. 2007; 170(2): 578-89.
  37. Wieslander C.K., Marinis S.I., Keller P., Boreham M.K., Drewes P.G., Schaffer J.I., Word R.A. Elastic fiber homeostasis in vaginal tissues from women with pelvic organ prolapse. Int. Urogynecol. J. Pelvic Floor Dysfunct. 2006; 17(Suppl. 3): S407-8. (Abstracts from the 27th Annual American Urogynecologic Society Scientific Meeting. 19-21 October 19-21, 2006. Palm Springs, California, USA)
  38. Zacchigna L., Vecchione C., Notte A., Cordenonsi M., Dupont S., Maretto S. et al. Emilin1 links TGF-beta maturation to blood pressure homeostasis. Cell. 2006; 124(5): 929-42.
  39. Kobak W., Lu J., Hardart A., Zhang C., Stanczyk E.Z., Eelix J.C. Expression of lysyl oxidase and transforming growth factor beta2 in women with severe pelvic organ prolapse. J. Reprod. Med. 2005; 50(11): 827-31.
  40. Takacs P., Nassiri M., Viciana A., Candiotti K., Eornoni A., Medina C.A. Fibulin-5 expression is decreased in women with anterior vaginal wall prolapse. Int. Urogynecol. J. Pelvic Floor Dysfunct. 2009; 20(2): 207-11.
  41. Zhou Y., Ling O., Bo L. Expression and significance of lysyl oxidase-like 1 and fibulin-5 in the cardinal ligament tissue of patients with pelvic floor dysfunction. J. Biomed. Res. 2013; 27(1): 23-8.
  42. Jian J., Zheng Z., Zhang K., Rackohn T.M., Hsu C., Levin A. et al. Fibromodulin promoted in vitro and in vivo angiogenesis. Biochem. Biophys. Res. Commun. 2013; 436(3): 530-5.
  43. Klutke J., Ji Q., Campeau J., Starcher B., Eelix J.C., Stanczyk E.Z., Klutke C. Decreased endopelvic fascia elastin content in uterine prolapsed. Acta Obstet. Gynecol. Scand. 2008; 87(1): 111-5.
  44. Wang X., Li Y., Chen J., Guo X., Guan H., Li C. Differential expression profiling of matrix metalloproteinases and tissue inhibitors of metalloproteinases in females with or without pelvic organ prolapsed. Mol. Med. Rep. 2014; 10(4): 2004-8.
  45. Ferrari M.M., Rossi G., Biondi M.L., Vigano P., Dell’utri C., Meschia M. Type I collagen and matrix metalloproteinase 1, 3 and 9 gene polymorphisms in the predisposition to pelvic organ prolapse. Arch. Gynecol. Obstet. 2012; 285(6): 1581-6.
  46. Wu J.M., Visco A.G., Grass E.A., Craig D.M., Fulton R.G., Haynes C. et al. Matrix metalloproteinase-9 genetic polymorphisms and the risk for advanced pelvic organ prolapse. Obstet. Gynecol. 2012; 120(3): 587-93.
  47. Yilmaz N., Ozaksit G., Terzi K. Y., Yilmaz S., Budak B., Aksakal O., Şahin E.I. HOXA11 and MMP2 gene expression in uterosacral ligaments of women with pelvic organ prolapse. J. Turk. Ger. Gynecol. Assoc. 2014; 15(2): 104-8.
  48. Адамян Л.В., Смольнова Т.Ю., Банин В.В. Роль «тканевого фенотипа» в развитии гинекологических заболеваний. Проблемы репродукции. 2007; 13(4): 6-11. [Adamyan L.V., Smolnova T.Yu., Banin V.V. The role of „tissue phenotype” in cancer development. Problemyi reproduktsii. 2007; 13(4): 6-11. (in Russian)]
  49. Boreham M.K., Wai C.Y., Miller R.T., Schaffer J.I., Word R.A. Morphometric analysis of smooth muscle in the anterior vaginal wall of women with pelvic organ prolapse. Am. J. Obstet. Gynecol. 2002; 187(1): 56-63.
  50. Corton M.M. Anatomy of pelvic floor dysfunction. Obstet. Gynecol. Clin North Am. 2009; 36(3): 401-19.
  51. Boreham M.K., Miller R.T., Schaffer J.I., Word R.A. Smooth muscle myosin heavy chain and caldesmon expression in the anterior vaginal wall of women with and without pelvic organ prolapse. Am. J. Obstet. Gynecol. 2001; 185(4): 944-52.
  52. Visco A.G., Yuan L. Differential gene expression in pubococcygeus muscle from patients with pelvic organ prolapse. Am. J. Obstet. Gynecol. 2003; 189(1): 102-12.
  53. Athanasiou S., Lymberopoulos E., Kanellopoulou S., Rodolakis A., Vlachos G., Antsaklis A. Proteomic analysis of pubocervical fascia in women with and without pelvic organ prolapse and urodynamic stress incontinence. Int. Urogynecol. J. 2010; 21(11): 1377-84.

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies