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Published on: August 4, 2021
Association of Y chromosome AZF region microdeletions with recurrent miscarriage in Iranian couples: A case-control
Nasrin Pazoki1, Mitra Salehi2, Seyed Abdolhamid Angaji3
1Department of Genetics, Faculty of Biological Sciences, North Tehran Branch, Islamic Azad University, Tehran, Iran.
Background:
Recent studies have linked recurrent pregnancy loss (RPL) to abnormalities in the sperm genome, specifically microdeletions in the azoospermia factor (AZF) region. This study investigated the potential association between Y chromosome microdeletions in the AZF region and RPL in Iranian couples.
Methods:
The research presents a case-control study of 240 men: 120 whose partners experienced recurrent miscarriage, and 120 who had successful pregnancies without history of miscarriage. The study used semen parameters, hormone analyses, and microdeletion analysis via multiplex PCR and the YChromStrip kit. Thus, the sequence-tagged site (STS) markers of AZFa (sY84, sY86), AZFb (sY127, sY134), and AZFc (sY254, sY255) regions were examined.
Results:
The variations in semen parameters and sex hormone levels between cases and controls are suggest impaired testicular function in men whose partners had recurrent miscarriages (p < 0.05). Furthermore, the study revealed a negative correlation between sperm count and follicle-stimulating hormone (FSH) level, and a positive one between sperm motility and testosterone concentration. There were no microdeletions in the control group, while the RPL group showed 20 deletions in AZFb (sY134) (16.66%) and 10 deletions each in AZFb (sY127) (8.33%) and AZFc (sY254) (8.33%).
Conclusion:
Microdeletions in sY134 (AZFb) were significantly associated with RPL in Iranian men (p = 0.03). AZF microdeletion screening in couples with RPL can provide valuable information for ethnical genetic counseling and management of recurrent miscarriage. Further studies on larger populations or across various ethnic groups, conclusions and the inclusion of other factors like epigenetic changes explain the role of AZF microdeletions in RPL.
Insights
Y chromosome microdeletions in the azoospermia factor (AZF) region are linked to recurrent pregnancy loss (RPL). Specifically, sY134 (AZFb) deletions were significantly associated with RPL in Iranian men, aiding genetic counseling.
Area of Science:
- Reproductive Medicine
- Human Genetics
- Andrology
Background:
- Recurrent pregnancy loss (RPL) is increasingly linked to sperm genome abnormalities.
- Microdeletions in the azoospermia factor (AZF) region of the Y chromosome are implicated in RPL.
- This study investigates the association between AZF microdeletions and RPL in Iranian couples.
Purpose of the Study:
- To determine the prevalence of Y chromosome microdeletions in the AZF region among Iranian men experiencing recurrent pregnancy loss.
- To assess the correlation between specific AZF microdeletions and impaired testicular function indicated by semen parameters and hormone levels.
- To evaluate the clinical significance of AZF microdeletion screening for genetic counseling in couples with RPL.
Main Methods:
- A case-control study involving 240 men (120 with RPL, 120 controls).
- Analysis included semen parameters, sex hormone levels, and Y chromosome microdeletion detection using multiplex PCR and the YChromStrip kit.
- Specific sequence-tagged site (STS) markers for AZFa, AZFb, and AZFc regions were examined.
Main Results:
- Men with RPL exhibited impaired testicular function, evidenced by significant variations in semen parameters and hormone levels compared to controls (p < 0.05).
- A significant association was found between microdeletions in sY134 (AZFb) and RPL (p = 0.03).
- Deletions were observed in AZFb (sY134, sY127) and AZFc (sY254) regions in the RPL group, with no deletions in the control group.
Conclusions:
- Microdeletions in the sY134 (AZFb) region are significantly associated with recurrent pregnancy loss in Iranian men.
- AZF microdeletion screening is valuable for ethnical genetic counseling and managing recurrent miscarriage.
- Further research with larger populations and diverse ethnic groups is recommended to elucidate the role of AZF microdeletions and other factors like epigenetic changes in RPL.
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