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Fig. 1 | Genome Biology

Fig. 1

From: Deep sequencing reveals a DAP1 regulatory haplotype that potentiates autoimmunity in systemic lupus erythematosus

Fig. 1

SLE-associated DAP1 haplotype in European American, African American, and Asian populations. a The targeted sequencing strategy and read depth across DAP1 gene locus on chromosome 5. b, c The overall LD (linkage disequilibrium) structure across DAP1 region; LD blocks shown in panels b and c are generated based on Caucasian data from the 1000 Genome Project and Caucasian SLE and control samples from the present study, respectively. b Show 73-kb block that contains top 19 SLE-associated DAP1 variants. Location of the peak SLE-associated SNP rs267985 is shown in c. d Median-joining (MJ) network analysis on most common DAP1 haplotypes in European American SLEs and healthy controls. Spheres (termed nodes) represent the locations of each haplotype (Additional file 1: Table S6) within the network, and the size of the node is proportional to the overall frequency of that haplotype in the dataset. Each node is overlaid with a pie chart that reflects the frequency of that haplotype in the SLE group (yellow) versus healthy group (black). The lines connecting the nodes are labeled with the variants that distinguish the connected nodes, and the length is proportional to the number of variants. Odds ratio (OR) is shown for the two most significant alleles. Red highlighted nodes indicate SLE risk clades. e Median-joining (MJ) network analysis on most common DAP1 haplotypes in African American SLEs and healthy controls. f Median-joining (MJ) network analysis on most common DAP1 haplotypes in Asian SLEs and healthy controls

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