Low-frequency inherited complement receptor variants are associated with purpura fulminans.

ABSTRACT:

Abstract

Extreme disease phenotypes can provide key insights into the pathophysiology of common conditions, but studying such cases is challenging due to their rarity and the limited statistical power of existing methods. Herein, we used a novel approach to pathway-based mutational burden testing, the rare variant trend test (RVTT), to investigate genetic risk factors for an extreme form of sepsis-induced coagulopathy, infectious purpura fulminans (PF). In addition to prospective patient sample collection, we electronically screened over 10.4 million medical records from 4 large hospital systems and identified historical cases of PF for which archived specimens were available to perform germline whole-exome sequencing. We found a significantly increased burden of low-frequency, put

SUBMITTER: Bendapudi PK 

PROVIDER: S-EPMC10950473 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature