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Genome wide association study in Immune TTP
A
B
Figure 3. Locus zoom plots of the chromosome 3 peak in the UK discovery cohort. The upper plot (A) shows the unconditioned analysis and the lower plot (B) shows associations of the same markers when conditioned on the lead single-nucleotide polymorphisms (SNP), rs9884090. Genomic positions refer to Human Assembly GRCh37/hg19. chr3: chromosome 3.
site and eQTL demonstrates reduced POGLUT1 expres- sion associated with this variant. We therefore hypothe- size this leads to altered O-glycosylation on POGLUT1 targets. Whilst the exact role of POGLUT1 in the patho- physiology of iTTP requires further downstream func- tional analysis, this work represents an important step forward in our understanding of iTTP.
Disclosures
MJS received research funding from Shire/Takeda; PC sits on the advisory board and received symposia fees from Sanofi, Alexion and Roche, received fees from Octapharma; AV sits on the advisory board of Ablynx/Sanofi, Roche-Chugai, and
Shire/Takeda, received course fees and awards from LFB Biomédicaments, Octapharma and CSL-Behring; MT sits on the advisory board of Sanofi; YB sits on the advisory board of Sanofi and Octapharma; PP sits on the advisory board of Sanofi; DPG received honoraria and sits on the advisory board of Alexion; MS consults, received honoraria, sits on the advisory board, received speakers fees from Novarits, received honoraria, sits on the adviso- ry board, received research funding and speakers fees from Shire/Takeda, consults for, received honoraria, sits on the advisory board, received speakers fees from Ablynx/Sanofi and Shire/Takeda, received honoraria, sits on the advisory board and speakers bureau of Alexion, received research funding from Baxalta: All other authors have no conflicts of interest to disclose.
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