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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Association of Fetal APOL1 Risk Variants with ...
Association of Fetal APOL1 Risk Variants with Adverse Maternal Outcomes in Preeclampsia
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The study investigated the association between fetal APOL1 gene variants and maternal outcomes of preeclampsia. The study was conducted at a single center and had a limited sample size, which may have affected the statistical power. Additionally, the limited maternal genotyping data did not allow for investigating the interaction between maternal and fetal APOL1 variants on outcomes. <br /><br />The study found that the rate of acute kidney injury (AKI) was higher in women with fetal APOL1 high-risk (HR) variants in early onset preeclampsia. However, this association was not observed in women with late onset preeclampsia. <br /><br />To further examine the association between maternal and fetal APOL1 variants and maternal outcomes of preeclampsia, future studies with larger sample sizes are needed. <br /><br />Selected references provided include studies on APOL1 gene variants and their associations with kidney disease in individuals of African descent. They highlight the role of APOL1 HR variants in worse outcomes in sepsis and COVID-19 infection. <br /><br />The study was supported by grants from the Children's Hospital at Montefiore/Albert Einstein College of Medicine and the NIH. Funding also came from the Preeclampsia Foundation Peter Joseph Pappas Research Grant and a catalytic seed grant from the NIH CTSA. <br /><br />Preeclampsia, a hypertensive disorder unique to pregnancy, has a higher incidence in women of African descent. APOL1 gene variants, specifically the high-risk variants, have been associated with kidney disease in individuals of African descent. The study aimed to explore the association between fetal APOL1 HR variants and maternal complications of preeclampsia. Fetal APOL1 genotyping was performed in a cohort of 120 mother-infant dyads affected by preeclampsia. The study found that in early onset preeclampsia, women with fetal APOL1 HR variants had a significantly higher rate of acute kidney injury compared to those with low-risk variants. However, this association was not observed in late onset preeclampsia. The findings suggest that fetal APOL1 HR variants may be associated with adverse maternal outcomes in preeclampsia, particularly in early onset cases. Further studies with larger sample sizes are needed to validate and expand on these findings.
Asset Subtitle
Presenting Author - Desiree Fiorentino, MD, MBA, FACMG, FACOG; Co-Author - Rebecca Hjorten, MD; Co-Author - Jeffrey Kopp, MD; Co-Author - Sandra Reznik, MD; Co-Author - Tao Wang, MD; Co-Author - Cheryl Winkler, PhD; Co-Author - Kimberly Reidy, MD;
Meta Tag
Genetic Testing
Identification of Disease Genes
Maternal Genetic Disease
Pathogenesis
Phenotypic delineation of disorders
Co-Author
Rebecca Hjorten, MD
Co-Author
Jeffrey Kopp, MD
Co-Author
Sandra Reznik, MD
Co-Author
Tao Wang, MD
Co-Author
Cheryl Winkler, PhD
Co-Author
Kimberly Reidy, MD
Presenting Author
Desiree Fiorentino, MD, MBA, FACMG, FACOG
Keywords
fetal APOL1 gene variants
maternal outcomes
preeclampsia
acute kidney injury
early onset preeclampsia
late onset preeclampsia
association
kidney disease
African descent
mother-infant dyads
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