Variants in the 5'-UTR of APELA gene in women with preeclampsia.
Prenat Diagn
; 39(4): 308-313, 2019 03.
Article
em En
| MEDLINE
| ID: mdl-30719741
ABSTRACT
OBJECTIVE:
To detect APELA gene variants in clinical cases with preeclampsia (PE) and evaluate the influence of the APELA variants in gene expression.METHOD:
A total of 288 individuals suffering from PE and 384 unaffected individuals were chosen for case-control studies. Genomic DNA was extracted from peripheral blood. Variants screening of APELA gene was conducted, and potential influence of variants in APELA expression was evaluated with a luciferase assay.RESULTS:
Two rare variants (c.-306A > G and c.-145A > G) in the 5'-UTR of APELA gene were identified exclusively in PE affected individuals. Luciferase assays in HEK293 cells and HTR-8/SVneo cells revealed that both variants impaired transcriptional activity of APELA by altering the function of promoter region. Also, a single-nucleotide polymorphism (SNP) (c.159 T > C) in exon 2 of APELA was found in both cases and controls, and there was no statistically significant difference in genotype and allele frequency between cases and controls.CONCLUSION:
Variants in the 5'-UTR of APELA gene may account for variability of APELA expression among individuals with PE and may play a negative regulatory role in the pathogenesis of PE.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Pré-Eclâmpsia
/
Regiões 5' não Traduzidas
/
Polimorfismo de Nucleotídeo Único
/
Hormônios Peptídicos
Tipo de estudo:
Observational_studies
Limite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article