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Single-nucleotide polymorphisms in genes involved in placental function and unexplained stillbirth
Francesca Ferrari1, Fabio Facchinetti, Huaizhi Yin
1Division of Maternal-Fetal Medicine, Mother-Infant Department, University of Modena and Reggio Emilia, Modena, Italy. ferrari196@yahoo.com
American Journal of Obstetrics and Gynecology
|October 2, 2012
Summary
Unexplained stillbirth with normal fetal growth is linked to a specific placental gene variant (eNOS-SNP rs1800783). This finding may help identify stillbirth risk factors in pregnancies with adequate fetal growth.
Area of Science:
- Genetics
- Obstetrics
- Perinatal Medicine
Background:
- Stillbirth (SB) remains a significant concern in perinatal medicine.
- Understanding the genetic factors contributing to unexplained stillbirth is crucial for prevention.
- Placental dysfunction is implicated in various pregnancy complications, including stillbirth.
Purpose of the Study:
- To investigate the association between unexplained stillbirth and single-nucleotide polymorphisms (SNPs) in placental genes.
- To identify potential genetic markers for stillbirth risk in a well-characterized cohort.
Main Methods:
- Placental DNA was analyzed from 50 unexplained stillbirth cases and 46 live birth controls.
- Stillbirths were categorized by fetal weight (appropriate for gestational age - AGA-SB, small for gestational age - SGA-SB) and gestational age.
- Single-nucleotide polymorphisms (SNPs) in endothelial nitric oxide synthase (eNOS), Klotho, hypoxic inducible factor-1α, and tumor necrosis factor-α genes were evaluated.
Main Results:
- No overall association was found between the evaluated SNPs and stillbirth.
- A significant difference in genotype distribution for eNOS-SNP rs1800783 was observed between AGA-SB, SGA-SB, and controls (P = .004).
- Allele A of eNOS-SNP rs1800783 was more frequent in AGA-SB compared to controls (P = .03) and SGA-SB (P = .001).
Conclusions:
- Carrying allele A of the eNOS gene SNP rs1800783 in the placenta is associated with unexplained stillbirth in cases with adequate fetal growth.
- This specific genetic variant may serve as a potential biomarker for stillbirth risk in pregnancies with normal fetal growth.
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