The role of Complement Factor H gene polymorphisms in risk for SLE

Genetic risk factors are known to be a major contributor for developing lupus, or systemic lupus erythematosus (SLE). The complement system, a biochemical cascade found in blood circulation that participates in the immune system to help clear microbial pathogens, plays a pivotal role in SLE. Dr. Zhao’s preliminary results showed two genetic variants in or near a complement regulatory gene were more frequently found in SLE patients than in healthy controls, suggesting variants within this gene might predispose to SLE.

In this proposal, Dr. Zhao will: 1) seek validation of preliminary results using additional samples collected from multiple ethnic groups, and 2) comprehensively investigate the genetic variants of this gene to identify true causal variants. The proposed studies may identify novel SLE-risk factors and enhance understanding of the pathogenesis of SLE, which may lead to the development new therapies in the future.