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>

背景：妊娠高血压综合征（Pregnancy-induced hypertension, PIH）是导致孕产妇、胎儿及新生儿发病与死亡的主要原因之一，其发病机制至今尚未完全阐明。本研究旨在通过全基因组测序（Whole Genome Sequencing, WGS）解析与PIH相关的基因组突变特征。方法：本研究对中国海口地区的PIH受试者开展全基因组测序分析，以探究其基因组特征。研究共鉴定出单核苷酸变异（Single nucleotide variations, SNVs）、插入缺失变异（insertion-deletion, InDel）、拷贝数变异（copy number variations, CNVs）及结构变异（structural variation, SV）。采用基因本体论（Gene ontology, GO）与京都基因与基因组百科全书（Kyoto Encyclopedia of Genes and Genomes, KEGG）数据库开展功能富集分析，使用GeneMania软件进行蛋白质相互作用（Protein-protein interaction, PPI）分析。结果：本研究在PIH受试者中鉴定出2535个有害单核苷酸变异、129个常见拷贝数变异及2463个常见结构变异，其中碱基转换占比高达67.73%。生物信息学分析显示，AKR1C1、UGT1A1及UGT1A4编码的蛋白可能对PIH受试者存在潜在危害。通路分析表明，上述三个基因参与类固醇激素的合成与转化过程。此外，蛋白质相互作用分析显示，AKR1C1、UGT1A1及UGT1A4在物理互作、共表达、共定位及通路层面均存在紧密关联。结论：本研究针对特定中国队列开展了PIH相关全基因组突变的全面分析，为PIH发病机制的基因组学基础提供了全新假说，并将AKR1C1、UGT1A1及UGT1A4列为高优先级候选基因，有待进一步开展功能与机制研究，以评估其在未来临床认知与应用中的潜在价值。