Gene-polymorphisms Relating to Human Subfertility

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01385618
Recruitment Status : Completed
First Posted : June 30, 2011
Last Update Posted : March 25, 2015
Weill Medical College of Cornell University
Information provided by (Responsible Party):
Prof. Dr. Stefan Dieterle, Infertility Treatment Center Dortmund

Brief Summary:

Estradiol is synthesized by granulosa cells of ovaries under control of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). It is known that Estradiol plays a crucial role in maturation and fertilization of oocytes. Furthermore it is involved in development of secondary female sexual organs, fertility and maintenance of pregnancy.

Estradiol influences these processes by binding to estradiol receptors (ER). They are ligand-depending transcription-factors. In humans there are two subtypes: ERa and ERb, which are synthetized from gene ESR1 on chromosome 6 and ESR2 on chromosome 14. Both subtypes are expressed in the ovary. Both genes are polymorph. Especially for ERa subtype several polymorphisms and mutations are known which can be linked to breast cancer, spontaneous abortions, osteoporosis and the point in time of menarche. Furthermore some studies have shown a relationship between certain polymorphisms and the risk of infertility associated gynecological malfunctions and the result of IVF treatments.

Progesterone is a hormone which plays a crucial role in initiation and maintenance of pregnancy. It induces the transformation of the endometrium, which facilitates the implantation of the fertilized oocyte and supports the pregnancy. Progesterone acts by binding to its receptor. The gene for this receptor is polymorph within the population, whereas some variants seem to account for implantation failure of embryos.

In the investigators study the investigators will analyse the role of ERP and PRP polymorphisms in the context of IVF treatment. The analyzed genotypes are two polymorphisms of ESRI, called Pvu and Xba, as well as a variant of ESRII, ER2. In the progesterone receptor gene a single nucleotide exchange at position +331 (G->A) plays a role.

The parameters correlated with are concentrations of estradiol, progesterone and FSH, number of follicles, number of fertilized oocytes and pregnancy rate.

The investigators hope to optimize established treatment protocols and to improve the chances of success of IVF treatments depending on the genotype of the patient.

Condition or disease
Estradiol Receptor Polymorphism Progesterone Receptor Polymorphism IVF Subfertility

Study Type : Observational
Actual Enrollment : 150 participants
Observational Model: Case Control
Official Title: Analysis of Gene-polymorphisms Relating to Human Subfertility: Estradiol-receptor-polymorphism and Progesterone-receptor-polymorphism
Study Start Date : October 2010
Actual Primary Completion Date : March 2015
Actual Study Completion Date : March 2015

Resource links provided by the National Library of Medicine

high responder
females with >15 follicles or E2>3000 after treatment with gonadotropins
low responder
patients with <3 follicles or no response to treatment with gonadotropins
females with an indication for treatment because of male subfertility

Primary Outcome Measures :
  1. genetic testing for two estrogene receptor genes, correlating to numbers of oocytes retrieved at oocyte punction after hormonal stimulation [ Time Frame: 30.06.2013 ]

Biospecimen Retention:   Samples With DNA
buccal swabs

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 40 Years   (Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Female patients at reproductive age seeking IVF treatment

Inclusion Criteria:

  • IVF/ ICSI treatment with hormonal stimulation
  • reproductive age
  • high response OR low response OR male subfertility

Exclusion Criteria:

  • other fertility treatments like IUI or timed intercourse

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 identifier (NCT number): NCT01385618

Infertility treatment center Dortmund
Dortmund, NRW, Germany, 44135
Sponsors and Collaborators
Infertility Treatment Center Dortmund
Weill Medical College of Cornell University
Principal Investigator: Andreas Neuer Infertility Treatment Center Dortmund

Responsible Party: Prof. Dr. Stefan Dieterle, Prof. Dr., Infertility Treatment Center Dortmund Identifier: NCT01385618     History of Changes
Other Study ID Numbers: PRP-ERP2010
First Posted: June 30, 2011    Key Record Dates
Last Update Posted: March 25, 2015
Last Verified: March 2015

Additional relevant MeSH terms:
Genital Diseases, Male
Genital Diseases, Female