Abstract
Henoch-Schönlein purpura (HSP) is a systemic small-vessel vasculitis caused by environmental and inherent factors. Although recent research has advanced our understanding of the role of genetic susceptibility in HSP, there are still significant gaps in our knowledge. In this study, we aimed to explore some susceptibility genes likely associated with HSP. Three DNA samples from a family with HSP were used to perform whole exome sequencing with Illumina Hiseq 2500 high-throughput sequencing. The relevant single nucleotide variants (SNVs) were screened according to specific filter conditions and the screened SNVs were then verified with Sanger sequencing. The Sanger sequencing results were further screened according to available literature. Finally, candidate genes were validated in 92 samples from children with HSP, and also in 1 child with HSP from HSP family, using the polymerase chain reaction technique (PCR). Our analysis revealed that the MIF gene and the MGAT5 gene related to immunity remained after screening. Among the 93 children with HSP, there were 3 patients with MIF mutations and 2 patients with MGAT5 mutations. Our findings are helpful for providing new methods and ideas for understanding the pathogenesis of HSP by detecting and analyzing gene mutations at the whole-exome level including multi-generation sequencing. MIF and MGAT5 may be new susceptibility loci for HSP, but their roles in the pathogenesis of HSP are worthy of further study.
Highlights
Henoch–Schönlein purpura (HSP) is a small-vessel vasculitis that often occurs in children and can cause various clinical issues, such as skin purpura, arthritis, and/or arthralgia, abdominal pain, and renal involvement.[1]
Our analysis revealed that the migration inhibitory factor (MIF) gene and the MGAT5 gene related to immunity remained after screening
Our findings are helpful for providing new methods and ideas for understanding the pathogenesis of HSP by detecting and analyzing gene mutations at the whole-exome level including multi-generation sequencing
Summary
Henoch–Schönlein purpura (HSP) is a small-vessel vasculitis that often occurs in children and can cause various clinical issues, such as skin purpura, arthritis, and/or arthralgia, abdominal pain, and renal involvement.[1] Some of the renal damage can progress to renal insufficiency, which determines the long-term prognosis of HSP.2 the first HSP report was made nearly 200 years ago, the exact etiology and pathogenesis of the disease are still unclear. Some studies have shown that the incidence of HSP has a tendency for familial aggregation.[3,4,5] In other words, genetic factors may play an important role in the pathogenesis of HSP. Henoch–Schönlein purpura (HSP) is a systemic small-vessel vasculitis caused by environmental and inherent factors. Recent research has advanced our understanding of the role of genetic susceptibility in HSP, there are still significant gaps in our knowledge
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