Table 1.

Fetal hemoglobin association results for SNPs at the BCL11A, HBS1L-MYB, and β-globin loci in the CSSCD and the Brazil sickle cell disease cohort

Gene and chromosome (physical position)*SNPCSSCD (N = 1,275)
Brazil (N = 350)
MAF (allele)Effect size (SE)Variance explained (%)P valueMAF (allele)Effect size (SE)Variance explained (%)P value
BCL11A
2 (60573750)rs118868680.31 (C)0.524 (0.041)11.84 · 10−350.39 (C)0.376 (0.078)6.72 · 10−6
2 (60574475)rs46713930.27 (A)0.598 (0.042)14.12 · 10−420.24 (A)0.485 (0.086)9.03 · 10−8
2 (60574851)rs75579390.31 (G)0.540 (0.040)12.66 · 10−380.38 (G)0.409 (0.076)7.91 · 10−7
HBS1L-MYB
6 (135417902)rs283845130.20 (C)−0.102 (0.049)0.40.04Not genotyped
6 (135460609)rs77760540.20 (G)0.103 (0.050)0.40.040.17 (G)0.346 (0.103)3.40.0009
6 (135460711)rs93991370.06 (C)0.571 (0.086)3.55 · 10−11Failed
6 (135461324)rs93892680.19 (G)0.102 (0.051)0.30.050.20 (G)0.349 (0.093)4.00.0002
6 (135468266)rs48954410.10 (G)0.338 (0.064)2.21 · 10−70.14 (G)0.552 (0.107)7.44 · 10−7
β-globinlocus
11 (5232745)rs74821440.07 (A)0.407 (0.080)2.24 · 10−7Homozygous
  • *Position on NCBI Build 36.1.

  • MAF, minor allele frequency. Minor alleles (positive strand) are given in the parentheses.

  • Effect sizes and standard errors are given in standard deviation units for the minor allele.