Whole-genome Sequencing Study in Patients With Diminished Ovarian Reserve

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

140 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-09-01

Study Completion Date

2022-12-31

Brief Summary

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The study aims to explore the genetic pathogenesis of diminished ovarian reserve via whole-genome sequencing technology in Chinese women.

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Detailed Description

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Diminished ovarian reserve (DOR), a pathological condition of reduced quantity and quality of oocytes, has severe impairment on women fertility. Some women experience DOR may develop into premature ovarian insufficiency (POI), which defined as a cessation of function of ovaries in women younger than 40 years old. The pathogenesis of DOR is multiple and the etiology of most DOR remains obscure. Genetic factors, including chromosome abnormality, genetic variation, and non-coding RNA abnormal regulation are considered the major mechanisms of DOR. More than 12 gene mutations, detected by whole-exome sequencing (WES), have been implicated as potential causes of DOR. However, we have found that coding gene mutation detected by WES may only account for a small part of DOR. Whole-genome sequencing (WGS) has been developing into an important strategy for identifying exons, introns and mitochondrial DNA mutation. However, the application of WGS is still lacking in detecting pathogenic genes of DOR. Therefore, this study intends to explore the possible pathogenic genes by WGS in order to deeply and comprehensively understand the pathogenic mechanism of DOR.

Conditions

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Diminished Ovarian Reserve

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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DOR group

Genomic DNA will be extracted from peripheral blood leukocytes to perform whole-genome sequencing in participates with diminished ovarian reserve.

whole-genome sequencing

Intervention Type OTHER

Whole-genome sequencing will be preformed for each participate to explore the potential disease-causing genes of DOR.

Control group

Participants with normal ovarian reserve will be recruited as control group and peripheral blood leukocytes genomic DNA will be extracted to perform whole-genome sequencing.

whole-genome sequencing

Intervention Type OTHER

Whole-genome sequencing will be preformed for each participate to explore the potential disease-causing genes of DOR.

Interventions

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whole-genome sequencing

Whole-genome sequencing will be preformed for each participate to explore the potential disease-causing genes of DOR.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

DOR group:

1. age between 18 and 40 years;
2. number of oocytes obtained in previous ovarian stimulation cycles ≤3;
3. bilateral ovarian antral follicle count (AFC) \< 5-7;
4. serum anti-Mullerian hormone (AMH) \<0.5-1.1ng/ml.

Control group:

1. age between 18 and 40 years;
2. bilateral AFC ≥8;
3. serum AMH ≥1.2ng/ml;
4. regular menstrual cycles occurring every 25-35 days.

Exclusion Criteria

1. an abnormal karyotype;
2. a history of other endocrine diseases such as polycystic ovary syndrome, hyperprolactinemia and hyperthyroidism;
3. a history of radiotherapy, chemotherapy and ovarian surgery.

Minimum Eligible Age

18 Years

Maximum Eligible Age

40 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

No