The autoimmune disease risk variant NCF1-His90 is associated with a reduced risk of tuberculosis in women.

ABSTRACT:

Introduction

The neutrophil cytosolic factor 1 (NCF1) rs201802880 polymorphism is a missense mutation resulting in an amino acid substitution from arginine to histidine at position 90, which impairs the function of NADPH oxidase. This casual variant confers an increased risk for multiple autoimmune disorders, including primary Sjögren's syndrome and systemic lupus erythematosus. Given the high prevalence of this autoimmune disease risk variant in East Asia, we hypothesized that it may confer an evolutionary advantage by providing protection against infectious diseases.

Methods

To test this hypothesis, we investigated whether the NCF1 rs201802880 variant offers a protective effect against tuberculosis (TB), a historically significant and deadly infectious diseas

SUBMITTER: Hu X 

PROVIDER: S-EPMC11799249 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature