Causative SLE allele in NCF2 paper published

Fri, 30 Dec 2011 11:42:21 -0800
biology, genetics, snp

This year has been fairly good for our lab; a few years ago we found an association of rs17849502 with SLE. Finally, after significant work by our collaborators, we managed to demonstrate a functional significance of this SNP with possible importance for SLE. Changing H389 to Q reduces the function of the NADPH oxidase complex by 50% in Vav dependent Fcγ response.

You can read the paper "Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of NADPH oxidase." (pmid: 22203994)