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Associations of mitochondrial DNA copy number and deletion rate with early pregnancy loss
- Source :
- Mitochondrion. 55:48-53
- Publication Year :
- 2020
- Publisher :
- Elsevier BV, 2020.
-
Abstract
- Early pregnancy loss (EPL) is a common event worldwide. Previous studies show that mitochondrial DNA (mtDNA) copy number (CN) is associated with semen parameters and preimplantation embryo viability, indicating the predictive potential of mtDNA CN for ongoing pregnancy outcomes. However, no relevant study has assessed the relationship between mtDNA CN and EPL. Thus, we aimed to determine whether mtDNA CN and mtDNA 4977-bp deletion rate (DR) in chorionic villous tissue are associated with EPL. Chorionic villous tissue total DNA was extracted from 75 EPL cases and 75 healthy controls. Chromosomal analysis was conducted using copy number variation (CNV) sequencing. The mtDNA CN and DR were measured in samples without pathogenic CNVs. The association between mtDNA CN or DR and EPL risk were estimated using logistic regression. The EPL group had a significantly different mtDNA CN (P 0.001) and DR (P = 0.005) compared to the control group. Both biomarkers were independent risk factors for EPL (CN odds ratio 1.71, 95% confidence interval 1.17 to 2.49, P = 0.005; DR odds ratio 1.07, 95% confidence interval 1.02 to 1.12, P = 0.006). These results suggest that higher mtDNA CN and DR levels are strongly associated with EPL and represent independent risk factors for EPL. Further studies validating these findings and exploring the underlying biological mechanisms are warranted.
- Subjects :
- Adult
0301 basic medicine
Mitochondrial DNA
DNA Copy Number Variations
Early Pregnancy Loss
Gestational Age
Semen
Biology
DNA, Mitochondrial
Andrology
03 medical and health sciences
chemistry.chemical_compound
0302 clinical medicine
Pregnancy
Ongoing pregnancy
Humans
Copy-number variation
Molecular Biology
Genetic Association Studies
Sequence Deletion
Chromosomal analysis
Embryo
Sequence Analysis, DNA
Cell Biology
Abortion, Spontaneous
Logistic Models
030104 developmental biology
chemistry
Case-Control Studies
Molecular Medicine
Female
Chorionic Villi
030217 neurology & neurosurgery
DNA
Maternal Age
Subjects
Details
- ISSN :
- 15677249
- Volume :
- 55
- Database :
- OpenAIRE
- Journal :
- Mitochondrion
- Accession number :
- edsair.doi.dedup.....1d494beec59ce674297aca4f865e2871
- Full Text :
- https://doi.org/10.1016/j.mito.2020.07.006