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Clinical and Experimental Obstetrics & Gynecology  2020, Vol. 47 Issue (1): 75-78    DOI: 10.31083/j.ceog.2020.01.5100
Original Research Previous articles | Next articles
Elastin genetic point mutation and the risk of pelvic organ prolapse
N. Haya1, I. Feferkorn1, *(), F. Fares2, N. Azzam2, R. Auslender1, Y. Abramov1
1Division of Urogynecology and Reconstructive Pelvic Surgery, Department of Obstetrics and Gynecology, Carmel Medical Center, The Ruth and Bruce Rappaport Faculty of Medicine, Technion University, Haifa, Israel
2Faculty of Natural Sciences, University of Haifa, Israel
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Abstract  

Aim: A missense mutation in the elastin gene (g28197A > G) is associated with an increased risk for inguinal hernias. Due to the shared epidemiological and pathophysiological features between pelvic organ prolapse (POP) and inguinal hernias, the authors hypothesized that a similar association exists between elastin gene polymorphism and POP. Materials and Methods: Patients of Ashkenazi Jewish origin with advanced (stage III-IV) POP (as assessed by POP-Q) and healthy controls were compared for the presence of the elastin gene g28197A > G missense mutation. Results: The missense mutation in the elastin gene was not found in neither the study or the control group. Conclusion: The elastin gene g28197A > G missense mutation was not found to be associated with an increased risk for POP.

Key words:  Elastin      Genetic polymorphism      Pelvic organ prolapse      Point mutation     
Published:  15 February 2020     
*Corresponding Author(s):  I. Feferkorn     E-mail:  idofeferkorn@gmail.com

Cite this article: 

N. Haya, I. Feferkorn, F. Fares, N. Azzam, R. Auslender, Y. Abramov. Elastin genetic point mutation and the risk of pelvic organ prolapse. Clinical and Experimental Obstetrics & Gynecology, 2020, 47(1): 75-78.

URL: 

https://ceog.imrpress.com/EN/10.31083/j.ceog.2020.01.5100     OR     https://ceog.imrpress.com/EN/Y2020/V47/I1/75

Figure 1.  — MaeI cut of DNA from healthy (control) women. The presence of only one band signifies that no mutation is present.

Figure 2.  — MaeI cut of DNA from women with POP. The presence of only one band signifies no mutation is present.

Table 1  — Demographic data of the study and control groups.
Characteristic Study group ((n=36) Control group (n=36) p value
Mean age ± SD 61.8 ± 10.1 58.2 ± 8.7 0.11
Mean BMI (kg/m2) ± SD 26.3 ± 10 26.5 ± 5.0 0.84
Mean overall parity ± SD 2.4 ± 0.8 2.5 ± 0.8 0.66
Mean vaginal parity ± SD 2.3 ± 0.8 2.4 ± 0.8 0.49
Total instrumental deliveries (%) 7 (8.5) 7 (8.0) 0.91
Total macrosomic infants (%) 5 (6.1) 7 (8.0) 0.62
Menopause rate, n (%) 30 (83.3) 30 (83.3) 1
Smoking rate n, (%) 6 (16.7) 11 (30.6) 0.17
Chronic constipation rate, n (%) 4 (11.1) 6 (16.7) 0.5
Table 2  — POP-Q stage of the study and control groups.
Control group (n=36) Study group (n=36) POP-Q stage
4 (11) 0 0
32 (89.9) 0 1
0 0 2
0 33 (91.7) 3
0 3 (8.3) 4
[1] Hendrix S.L., Clark A., Nygaard I., Aragaki A., Barnabei V., McTiernan A.: “Pelvic organ prolapse in the Women’s Health Initiative: gravity and gravidity”. Am. J. Obstet. Gynecol., 2002, 186, 1160.
[2] Swift S., Woodman P., O’Boyle A., Kahn M., Valley M., Bland D., et al.: “Pelvic Organ Support Study (POSST): the distribution, clinical definition, and epidemiologic condition of pelvic organ support defects”. Am. J. Obstet. Gynecol., 2005, 192, 795.
[3] Olsen A.L., Smith V.J., Bergstrom J.O., Colling J.C., Clark A.L.: “Epidemiology of Surgically Managed Pelvic Organ Prolapse and Urinary Incontinence”. Obstet. Gynecol., 1997, 89, 501.
[4] Wu J.M., Hundley A.F., Fulton R.G., Myers E.R.: “Forecasting the prevalence of pelvic floor disorders in U.S. Women: 2010 to 2050”. Obstet. Gynecol., 2009, 114, 1278.
[5] Vergeldt T.F., Weemhoff M., IntHout J., Kluivers K.B.: “Risk factors for pelvic organ prolapse and its recurrence: a systematic review”. Int. Urogynecol. J., 2015, 26, 1559.
[6] 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, 326.
[7] Cartwright R., Kirby A.C., Tikkinen K.A., Mangera A., Thiagamoorthy G., Rajan P., et al.: “Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women”. Am. J. Obstet. Gynecol., 2015, 212, 199.e1.
[8] Segev Y., Auslender R., Feiner B., Lissak A., Lavie O., Abramov Y.: “Are women with pelvic organ prolapse at a higher risk of developing hernias?”. Int. Urogynecol. J. Pelvic Floor Dysfunct., 2009, 20, 1451.
[9] Barnett C., Langer J.C., Hinek A., Bradley T.J., Chitayat D.: “Looking past the lump: genetic aspects of inguinal hernia in children”. J. Pediatr. Surg., 2009, 44, 1423.
[10] Junqueira Rodrigues C., Yoo J.H., Junqueira Rodrigues Junior A.: “Elastin(ELN) gene point mutation in patients with inguinal hernia”. Genet. Mol. Biol., 2006, 29, 45.
[11] Bump R.C., Mattiasson A., Bø K., Brubaker L.P., DeLancey J.O., Klarskov P., et al.: “The standardization of terminology of female pelvic organ prolapse and pelvic floor dysfunction”. Am. J. Obstet. Gynecol., 1996, 175, 10.
[12] Ewies A.A., Al-Azzawi F., Thompson J.: “Changes in extracellular matrix proteins in the cardinal ligaments of post-menopausal women with or without prolapse: a computerized immunohistomorphometric analysis”. Hum. Reprod., 2003, 18, 2189.
[13] Yamamoto K., Yamamoto M., Akazawa K., Tajima S., Wakimoto H., Aoyagi M.: “Decrease in elastin gene expression and protein synthesis in fibroblasts derived from cardinal ligaments of patients with prolapsus uteri”. Cell. Biol. Int., 1997, 21, 605.
[14] Klutke J., Ji Q., Campeau J., Starcher B., Felix J.C., Stanczyk F.Z., Klutke C.: “Decreased endopelvic fascia elastin content in uterine prolapse”. Acta Obstet. Gynecol. Scand., 2008, 87, 111.
[15] Karam J.A., Vazquez D.V., Lin V.K., Zimmern P.E.: “Elastinexpression and elastic fibre width in the anterior vaginal wall of postmenopausal women with and without prolapse”. BJU Int., 2007, 100, 346.
[16] Moon Y.J., Choi J.R., Jeon M.J., Kim S.K., Bai S.W.: “Alteration of elastin metabolism in women with pelvic organ prolapse”. J. Urol., 2011, 185, 1786.
[17] Budatha M., Roshanravan S., Zheng Q., Weislander C., Chapman S.L., Davis E.C., et al.: “Extracellular matrix proteases contribute to progression of pelvic organ prolapse in mice and humans”. J. Clin. Invest., 2011, 12., 2048.
[18] Connell K.A.: “Elastogenesis in the vaginal wall and pelvic-organ prolapse”. N. Engl. J. Med., 2011, 364, 2356.
[19] Ferrell G., Lu M., Stoddard P., Sammel M.D., Romero R., Strauss 3rd., Matthews CA.: “A single nucleotide polymorphism in the promoter of the LOXL1 gene and its relationship to pelvic organ prolapse and preterm premature rupture of membranes”. Reprod. Sci., 2009, 16, 438.
[20] Jorgenson E., Makki N., Shen L., Chen D.C., Tian C., Eckalbar W.L., et al.: “A genome-wide association study identifies four novel susceptibility loci underlying inguinal”. Nat. Commun., 2015, 6, 10130.
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