NCT04711772

Whole-genome Sequencing Study in Patients With Diminished Ovarian Reserve

A Whole-genome Sequencing Base Study on Genetic Pathogenesis of Diminished Ovarian Reserve

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 140 (estimated)
• Sponsor: Nanfang Hospital, Southern Medical University · Academic / Other
• Sex: Female
• Age: 18 Years – 40 Years
• Healthy volunteers: Not accepted

Summary

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

Detailed description

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

• Diminished Ovarian Reserve

Interventions

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

Timeline

• Start date: 2020-09-01
• Primary completion: 2022-06-30
• Completion: 2022-12-31
• First posted: 2021-01-15
• Last updated: 2021-01-15

Locations

1 site across 1 country: China