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Influence of WNT4 VEZT FSHB and SIRT1 SNPs in Endometriosis: a Case Control Study of the Sardinian Population

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ClinicalTrials.gov Identifier: NCT02388854
Recruitment Status : Recruiting
First Posted : March 17, 2015
Last Update Posted : February 15, 2021
Sponsor:
Information provided by (Responsible Party):
Stefano Angioni, University of Cagliari

Brief Summary:

Endometriosis, defined as the presence of endometrial tissue outside the uterine cavity, affects 6-10% of the general population of women in childbearing age.

The pathogenesis of the disease is unknown. The purpose of this study is to evaluate the influence of certain polymorphisms of genes WNT4, VEZT, FSHB, known to be involved in molecular mechanisms associated with phenomena of proliferation and development of endometriotic lesions, and SIRT1, that based on metabolomics studies, could hypothetically have a role in the pathogenesis of the disease. The study focus on the Sardinian population, known to have unique genetic characteristics due to geographical isolation.


Condition or disease Intervention/treatment
Polymorphism (Genetics) Endometriosis Genetic: SNPs analysis with Sanger sequencing

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Study Type : Observational
Estimated Enrollment : 200 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Influence of WNT4 VEZT FSHB and SIRT1 Genetic Polymorphisms in the Pathogenesis of Endometriosis: a Case Control Study of the Sardinian Population
Actual Study Start Date : September 1, 2019
Estimated Primary Completion Date : June 1, 2021
Estimated Study Completion Date : December 2021

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Endometriosis

Group/Cohort Intervention/treatment
Endometriosis
Sardinian Women with diagnosis of endometriosis
Genetic: SNPs analysis with Sanger sequencing
Research of frequency of SNPs (WNT4, VEZT, FSHB and SIRT1 genes) in Sardinian women affected by endometriosis and controls

Controls
Healthy blood Sardinian donors
Genetic: SNPs analysis with Sanger sequencing
Research of frequency of SNPs (WNT4, VEZT, FSHB and SIRT1 genes) in Sardinian women affected by endometriosis and controls




Primary Outcome Measures :
  1. Frequency of Single Nucleotide Polymorphisms of WNT4, VEZT, FSHB and SIRT1 in Sardinian women with and without endometriosis diagnosis [ Time Frame: baseline ]

Biospecimen Retention:   Samples With DNA
EDTA blood samples


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Sardinian women with or without diagnosis of endometriosis
Criteria

Inclusion Criteria (cases):

  • endometriosis diagnosis (clinic, ultrasound or histological)
  • women of Sardinian origin

Inclusion Criteria (controls):

  • no signs of endometriosis
  • women of Sardinian origin

Exclusion Criteria (cases and controls):

  • women of non-Sardinian origin
  • patients unable to provide written informed consent or to follow the procedures provided by the protocol

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02388854


Locations
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Italy
University of Cagliari,Obstetrics and Gynecological Department, Recruiting
Monserrato, Cagliari, Italy, 09042
Contact: Stefano Angioni    07051093399    sangioni@yahoo.it   
Contact: Danilo Deiana    3478448629    danideiana82@gmail.com   
Sub-Investigator: Danilo Deiana         
Sponsors and Collaborators
University of Cagliari
Publications:
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Responsible Party: Stefano Angioni, Influence of WNT4 VEZT FSHB and SIRT1 genetic polymorphiisms in the pathogenesis of endometriosis: a case control study of the Sardinian population, University of Cagliari
ClinicalTrials.gov Identifier: NCT02388854    
Other Study ID Numbers: ENDOSNPs
First Posted: March 17, 2015    Key Record Dates
Last Update Posted: February 15, 2021
Last Verified: February 2021
Additional relevant MeSH terms:
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Endometriosis