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. 2016 Jun;91(6):E308-11.
doi: 10.1002/ajh.24368. Epub 2016 Apr 28.

Homozygosity for a haplotype in the HBG2-OR51B4 region is exclusive to Arab-Indian haplotype sickle cell anemia

Vinod Vathipadiekal  1 , Abdulrahman Alsultan  2 , Kristin Baltrusaitis  3 , John J Farrell  1 , Abdullah M Al-Rubaish  4 , Fahad Al-Muhanna  4 , Zaki Naserullah  5   6 , Ahmed Suliman  7 , P K Patra  8 , Jacqueline N Milton  3 , Lindsay A Farrer  1 , David H K Chui  1 , Amein K Al-Ali  9 , Paola Sebastiani  3 , Martin H Steinberg  1
Affiliations

Homozygosity for a haplotype in the HBG2-OR51B4 region is exclusive to Arab-Indian haplotype sickle cell anemia

Vinod Vathipadiekal et al. Am J Hematol. 2016 Jun.
No abstract available

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Figures

Figure 1A
Figure 1A
Manhattan plot from the GWAS comparing Saudi Eastern AI vs. Saudi Southwestern Benin haplotype patients. P-values (−log10 P) of 599,131 SNPs after correction by Genomic Control is plotted against its physical chromosomal position. Odd chromosomes are in blue and even chromosomes in orange. Genome-wide significant variants separating these populations are clustered in chromosome 11p15.5.
Figure 1B
Figure 1B
Epigenetic marks of AI haplotype-specific and other SNPs. Shown in the 1st track are the chromosomal locations of the genes of the HBB cluster including the upstream (OR51B4) and downstream (OR52A5) olfactory receptors genes. A blue box shows the position of hypersensitive site 4 (HS-4) of the LCR. The 2nd track in light blue shows marks for histone H3 acetyl lysine 27 (HeK27Ac) throughout this region. Track 3 (DNase) shows DNase1 hypersensitive sites and track 4 (TFBS) shows binding sites for the transcription factors that include GATA1, GATA2, POLR2A and JUND. Below this are the locations of the SNPs detected by GWAS (black arrowheads (Table SII). SNPs shown in red arrowheads form a triallelic haplotype whose minor alleles are present only in the AI haplotype. Blue arrowheads show the positions of imputed SNPs that differ between Saudi AI and Saudi Benin haplotype patients (see text).
See this image and copyright information in PMC

References

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