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Variants in the 5'‐UTR of APELA gene in women with preeclampsia
Author(s) -
Yang Xin,
Bian Yuehong,
Wan Jipeng,
Li Lei,
Yang Ping,
Zhao Shigang,
Zhao Han
Publication year - 2019
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5431
Subject(s) - single nucleotide polymorphism , biology , genotype , snp , gene , untranslated region , gene expression , exon , allele , preeclampsia , genetics , microbiology and biotechnology , messenger rna , pregnancy
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.