Elastin Mutation And Pelvic Organ Prolapse

Objective:1 To find out if there were mutations at exon16,exon17 and exon26 of elastin gene in the patients with pelvic organ prolapse .2 To discuss if the mutations of elastin gene were associated with the risk ofⅠ,Ⅱstandard or III,IV standard pelvic organ prolapse .3 To quest the mechanism of pelvic organ prolapse.Methods:1 Study object: From September 2007 to September 2009,we collected blood of the inpatients who were suffering from pelvic organ prolapse disease or other gynecological disease complicated with pelvic organ prolapse in the second Hospital, Hebei Medical University.We grouped the patients who were suffering from pelvic organ prolapse according to International Continence Society published the pelvic organ prolapse quantitative examination( POP-Q) in 1996. 9 patients with pelvic organ prolapse ofⅠ,Ⅱstandard(patients with uterinee and vaginae anterior prolapse were three; patient with uterine and vaginae posterior prolapse was one;patient with vaginae anterior prolapse was one; patients with vaginae anterior and vaginae posterior prolapse were four), mean age is 56.63±9.28.21 patients with pelvic organ prolapse of III,IV standard(patients with uterine and vaginae anterior prolapse were ten; patients with uterine and vaginae posterior prolapse was three;patients with vaginae anterior prolapse were two; patients with uterine ,vaginae anterior and vaginae posterior prolapse were six), mean age is 57.3±9.9 . Control group:20 control women who came to our hospital for other benign diseases, mean age is 43.45±6.89. Patients with pelvic organ prolapse of III,IV standard andⅠ,Ⅱstandard were frequency matched by age (P>0.05). Patients with pelvic organ prolapse of III,IV standard and controls were frequency matched by age (P>0.05). Patients with pelvic organ prolapse ofⅠ,Ⅱstandard and controls were frequency matched by age too(P>0.05). All the patients did not suffer from connective tissue disease or any other malignant disease. Informed consent was obtained from all recruited subjects.2 Exon 16-17 and exon 26 of elastin gene were amplified by polymerase chain reaction, then pured and sequenced by Biology Engineering corporation in Shanghai.3 To analyze the sequenced results uses EditSeq software,MegAlign software and ChromasPro software. Statistical analysis was performed using SPSS13.0 software package.Results:1 We identified two variants of exon 16, including 846T/A and 853G/A.There were five 846T/A cases in 21 pop patients of III,IV standard(23.81%),the OR was 5.94,(95%CI 0.63-56.20). There was no mutation in the 9 pop patients ofⅠ,Ⅱstandard.One 846T/A case in 20 controls(5.0%). There were ten 853G/A cases in 21 pop patients of III,IV standard(47.62%), there was no mutation in the 9 pop patients ofⅠ,Ⅱstandard too. One 853G/A case in 20 controls(5.0%). The OR was 17.27,(95%CI 1.94-153.66). There were six 846T/A+853G/A cases in all the objects. Five 846T/A+853G/A cases in the pop patients of III,IV standard .One 846T/A+853G/A case in the controls. However there was no mutation in exon 17 and exon 26.2 The relationship between elastin mutation and clinical symptoms: The 846T/A mutation rates in pop patients of III,IV standard and controls were 23.81%, 5.0% respectively .Additional, there were no statistic difference, OR= 5.94,(95%CI 0.63-56.20). So 846T/A was not a risk factor to pop of III,IV standard.The 853G/A mutation rates in pop patients of III,IV standard and controls were 47.62%,5.0% respectively.In addition,there were statistic difference, OR=17.27,(95%CI 1.94-153.66).So 853G/A was a risk factor to pop of III,IV standard.Conclusion:1 846T/A led GTT to GTA,but did not induce the change of amino acid,so it belonged to the same meaning mutation. There were no statistic difference, 846T/A was not associated with the risk of III,IV standard pop development.846T /A was not a risk factor to pop of III,IV standard.2 853G/A led valineto to methionine. Moreover,there were statistic difference, 853G/A was associated with the risk of III,IV standard pop development. 853G/A was a risk factor to pop of III,IV standard.3 We found that 846T/A and 853G/A appearing at the same time was five times in pop of III,IV standard, the rate was higher .So they were in linkage disequilibrium perhaps.