Cavalcanti Brandão Lucas André, Rodrigues de Moura Ronald, Rodrigo Assunção Bruno, Del Vecchio Cecilia, d'Adamo Adamo Pio, Ratzinger Gudrun, Böckle Barbara, Frischhut Nina, Jaschke Wolfram, Schmuth Matthias, Suleman Muhammad, Marzano Angelo Valerio, Moltrasio Chiara, Tricarico Paola Maura, Crovella Sergio
Molecular Pathology Laboratory, Pathology Department, Federal University of Pernambuco, Recife, Brazil.
OneHealth Laboratory, Keizo Asami Institute (iLIKA), Recife, Brazil.
PLoS One. 2025 Jun 20;20(6):e0326458. doi: 10.1371/journal.pone.0326458. eCollection 2025.
Hidradenitis suppurativa (HS) is a chronic autoinflammatory skin disorder with a complex genetic and molecular basis. To advance its characterization, we applied InterOmics, a novel bioinformatics pipeline integrating whole exome sequencing (WES) and RNA sequencing (RNA-seq), to saliva and skin biopsy samples from six HS patients. This approach enabled a comprehensive multiomics investigation, identifying disease-associated genetic variants and transcriptomic alterations. A key innovation of InterOmics is the Multiomics Variant Category, which classifies variants based on DNA and RNA data, capturing regulatory mechanisms such as allele-specific expression, RNA editing, nonsense-mediated decay, and gain-of-function mutations. Our findings highlight HLA gene variants and keratin-related mutations as potential contributors to HS pathogenesis. By bridging genomic and transcriptomic data, InterOmics enhances variant interpretation. This study underscores the power of multiomics-driven approaches in deciphering complex diseases, paving the way for precision medicine in HS.
化脓性汗腺炎（HS）是一种具有复杂遗传和分子基础的慢性自身炎症性皮肤病。为了深入了解其特征，我们将InterOmics（一种整合全外显子组测序（WES）和RNA测序（RNA-seq）的新型生物信息学流程）应用于6例HS患者的唾液和皮肤活检样本。这种方法实现了全面的多组学研究，识别出与疾病相关的基因变异和转录组改变。InterOmics的一项关键创新是多组学变异分类，它基于DNA和RNA数据对变异进行分类，捕捉诸如等位基因特异性表达、RNA编辑、无义介导的衰变和功能获得性突变等调控机制。我们的研究结果突出了HLA基因变异和角蛋白相关突变是HS发病机制的潜在因素。通过将基因组和转录组数据联系起来，InterOmics增强了变异解读。这项研究强调了多组学驱动方法在解读复杂疾病方面的作用，为HS的精准医学铺平了道路。
