ELASTIN GENETIC POINT MUTATION ANDTHE RISK FOR PELVIC ORGAN PROLAPSE
N. HAYA 1, I. FEFERKORN1,F. FARES 2, N. AZZAM 2, A. ZILBERLICHT 1,R. AUSLENDER 1, Y. ABRAMOV 1;
1Obstetricsand Gynecology, Carmel Med. Ctr., Haifa, Israel, 2Facultyof Natural Sciences, Univ. of Haifa, Haifa, Israel.
Introduction: A missensemutation in the Elastin gene (g28197A > G) is associated with anincreased risk for inguinal hernias. Due to the sharedepidemiological and pathophysiological features between pelvic organprolapse (POP) and inguinal hernias, we hypothesized that a similarassociation exists between Elastin gene polymorphism andPOP.
Objective: To assess whether a missense mutation inthe Elastin gene is more prevalent in a population with advancedpelvic organ prolapse
Methods: Patients of Ashkenazi Jewishorigin with advanced (stage III-IV) POP (as assessed by POP-Q) andhealthy controls were compared for the presence of the Elastin geneg28197A > G missense mutation.
Results: The missensemutation in the Elastin gene was not found in either the study or thecontrol group.
Conclusions: The Elastin gene g28197A > Gmissense mutation was not found to be associated with an increasedrisk for POP.
References: 1. The ELN f gene exon 20 g28197A> G missense point mutation is present at a significantly higherfrequency in inguinal hernia patients than in non-herniated controls2. Patients with advanced pelvic organ prolapse have a higherprevalence of hiatal and inguinal hernias. This finding may beexplained by similar pathophysiological mechanisms shared by bothdisorders