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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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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:

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.

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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
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