1. A locus on chromosome 5 shows African ancestry–limited association with alloimmunization in sickle cell disease
by Lesedi M. Williams, Zhihua Qi, Ken Batai, Stanley Hooker, Nancy J. Hall, Roberto F. Machado, Alice Chen, Sally Campbell-Lee, Yongtao Guan, Rick Kittles, and Neil A. Hanchard
BloodAdv
Volume 2(24):
December 26, 2018
©2018 by American Society of Hematology

2. Lesedi M. Williams et al. Blood Adv 2018;2:3637-3647
©2018 by American Society of Hematology

3. Allelic association with responder status.
Allelic association with responder status. (A) Loci on chromosomes 2 and 5 have SNPs close to genome-wide significance (red line, P = 5.0 × 10−8). Genomic inflation factor (based on median χ2) is (B) LocusZoom plot of imputed chromosome 2 region. SNP rs reaches genome-wide significance. A SNP cluster in strong LD is 0.5 Mb downstream of NBAS. (C) LocusZoom plot of imputed chromosome 5 region. rs SNP cluster is located with long noncoding RNA gene LOC and 0.7 Mb upstream of ADRA1B. Purple highlighted region between peaks of increase recombination rate indicates the location of identified rare haplotype.
Lesedi M. Williams et al. Blood Adv 2018;2:
©2018 by American Society of Hematology

4. Chromosome 5 regulatory locus.
Chromosome 5 regulatory locus. Screenshot from the University of California, Santa Cruz, Genome browser80 ( Human Genome Build GRCh37/hg37 released in February 2009) showing regional binding sites for multiple transcription factors and enhancer binding proteins. Location of SNP rs is indicated by the light blue highlight. SNP rs within 1 base pair of the CEBPB binding motif, 5′-T[TG]NNGNAA[TG]-3′.
Lesedi M. Williams et al. Blood Adv 2018;2:
©2018 by American Society of Hematology

5. Local African ancestry of responders and nonresponders.
Local African ancestry of responders and nonresponders. (A) Local ancestry across chromosome 11 in cases and controls shows a strong peak of African ancestry at the HBB locus. (B-C) local African ancestry on chromosomes 2 and 5 in responders (cases) and nonresponders (controls). At each locus mean values are plotted as a bold line, with shaded values indicating upper (95%) and lower (5%) CIs.
Lesedi M. Williams et al. Blood Adv 2018;2:
©2018 by American Society of Hematology

6. Ancestry-restricted haplotype association at chromosome 5 candidate locus.
Ancestry-restricted haplotype association at chromosome 5 candidate locus. SNP rs shows significant association (log10 BF= 4.954) in the restricted African ancestry analysis (A) that is not detected in the restricted European ancestry analysis (B). Red lines show typical threshold for significant log10 BF.
Lesedi M. Williams et al. Blood Adv 2018;2:
©2018 by American Society of Hematology