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. 2015 Feb 10;16:4. doi: 10.1186/s12881-015-0148-3

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© Mtatiro et al.; licensee BioMed Central. 2015

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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African-specific association with HbF at HMIP-2B in Tanzanian SCD patients. Association analysis was performed with the same individuals as in Figure 1, but 15 patients with Eurasian-type high-HbF haplotypes (‘A – B’, carrying the ancestry-informative allele rs1376090-C) were excluded. Data for 54 markers imputed from 1000 Genomes YRI (Yoruba, Ibadan, Nigeria) sequence were added to the analysis. While the exclusion of selected individuals resulted in a weaker overall association signal, the potential to map African-specific variants at higher resolution was considered more important at this stage. Association scores are shown; unconditioned (black dots) and conditioned on the first three principal components derived from genome-wide SNP data (open circles) [25]. Shown also is the location of the conserved MYB upstream regulatory elements −71 and −63 [13].