original data for WGS.zip

Background: Pregnancy-induced hypertension (PIH) is one of the leading causes of maternal, fetal, and neonatal morbidity and mortality, and its pathogenesis remains incompletely understood. This research aimed to characterize PIH-associated genomic mutations by whole genome sequencing (WGS).Methods: We performed WGS analysis on PIH to explore the genomic features of PIH subjects from Haikou, China. Single nucleotide variations (SNVs), insertion-deletion (InDel), copy number variations (CNVs) and structural variation (SV) were identified. Functional enrichment analysis was conducted using Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) database. Protein-protein interaction (PPI) was performed using GeneMania software.Results: We identified 2,535 deleterious SNVs, 129 common CNVs, 2,463 common SVs in PIH subjects. A high proportion of transition (67.73%) was observed. Bioinformatic analysis suggested that AKR1C1, UGT1A1 and UGT1A4 encode proteins potentially deleterious for PIH subjects. Pathway analysis revealed that AKR1C1, UGT1A1 and UGT1A4 were involved in the synthesis and transformation of steroid hormones. Additionally, PPI analysis showed that AKR1C1, UGT1A1 and UGT1A4 had strong linkages in physical interactions, co-expression, co-localization and pathway.Conclusions: This study provides a comprehensive analysis of genome-wide mutations associated with PIH in a specific Chinese cohort. It offers novel hypotheses regarding the genomic basis of PIH pathogenesis, highlighting AKR1C1, UGT1A1 and UGT1A4 as high-priority candidate genes warranting further functional and mechanistic investigation to assess any potential future relevance to clinical understanding or applications.<br>