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Table 2 Genetic and epigenetic control of HBG2 / HBB expression in adult erythroblasts

From: Comparison of DNA methylation profiles in human fetal and adult red blood cell progenitors

Model

rs3759074-A

CpG (chr11:5,276,172)

BETA (SE)

P

BETA (SE)

P

Model 1: log(HBG2/HBB) ~ rs3759074

0.98 (0.42)

0.04

-

-

Model 2: log(HBG2/HBB) ~ CpG

-

-

−6.1 (2.0)

0.01

Model 3: log(HBG2/HBB) ~ rs3759074 + CpG

5.4 (1.6)

0.008

−0.81 (0.30)

0.02

  1. The A-allele at rs3759074 (chr11:5,257,778) is associated with increased fetal hemoglobin production by genome-wide association studies. In adult erythroblasts, rs3759074-A is associated with increased expression of HBG2/HBB (Model 1). DNA methylation at a CpG located in the HBG2 promoter (chr11:5,276,172) is inversely correlated with HBG2/HBB expression (Model 2). Both genotypes at rs3759074 and DNA methylation at CpG (chr11:5,276,172) are independent predictors of HBG2/HBB expression levels (Model 3). For this analysis, we used adult erythroblasts from 12 donors. Within this dataset, the rs3759074-A allele frequency is 27% and the mean DNA methylation value at the tested CpG is 61 ± 8%. BETA: arbitrary gene expression units; SE: Standard error.
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Genome Medicine

ISSN: 1756-994X

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