X-Git-Url: https://git.donarmstrong.com/?p=don.git;a=blobdiff_plain;f=posts%2Fncf2_pnas_paper.mdwn;fp=posts%2Fncf2_pnas_paper.mdwn;h=a07912eb0c200bad03c1199661cd589c9ac37db5;hp=0000000000000000000000000000000000000000;hb=a29dcee88e281a8a85d2be686bc64565367173f6;hpb=436d23ebf62916e1467523508c8b843b5481e0fe

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+[[!meta title="Causative SLE allele in NCF2 paper published"]] 
+
+This year has been fairly good for our lab; a few years ago we found
+an association of
+[rs17849502](http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=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."](http://www.pnas.org/cgi/pmidlookup?view=long&pmid=22203994)
+(pmid: [22203994](http://www.ncbi.nlm.nih.gov/pubmed/22203994))