Table 1

Significant SNPs in the meta-analysis

ChromosomeSNPBase pair positionsMinor alleleMAFNBetaSEP valueDirection*Gene
2 rs766432 60719970 C 0.276 2038 0.236 0.0147 5.36 × 10−58 +++++++ BCL11A 
2 rs10195871 60720589 A 0.313 2027 0.213 0.0144 2.142 × 10−49 +++++++ BCL11A 
2 rs6706648 60722040 A 0.395 2004 −0.177 0.0135 3.97 × 10−39 ––––––– BCL11A 
2 rs6738440 60722241 G 0.289 1976 −0.158 0.0159 2.945 × 10−23 ––––––– BCL11A 
2 rs6709302 60727629 A 0.320 1982 −0.142 0.0147 3.416 × 10−22 ––––––– BCL11A 
2 rs6732518 60708597 G 0.323 2035 0.133 0.0156 2.197 × 10−17 +++++++ BCL11A 
6 rs9494145 135432552 G 0.070 2039 0.217 0.0258 4.321 × 10−17 +++++++ HMIP 
6 rs9399137 135419018 G 0.060 2027 0.236 0.0294 1.172 × 10−15 +++++++ HMIP 
6 rs4895441 135426573 G 0.089 2025 0.187 0.0236 2.228 × 10−15 +++++++ HMIP 
2 rs10184550 60729294 G 0.319 2040 0.092 0.0147 3.831 × 10−10 +++++++ BCL11A 
2 rs12477097 60698397 C 0.364 1976 −0.079 0.0144 4.451 × 10−08 ––––––– BCL11A 
ChromosomeSNPBase pair positionsMinor alleleMAFNBetaSEP valueDirection*Gene
2 rs766432 60719970 C 0.276 2038 0.236 0.0147 5.36 × 10−58 +++++++ BCL11A 
2 rs10195871 60720589 A 0.313 2027 0.213 0.0144 2.142 × 10−49 +++++++ BCL11A 
2 rs6706648 60722040 A 0.395 2004 −0.177 0.0135 3.97 × 10−39 ––––––– BCL11A 
2 rs6738440 60722241 G 0.289 1976 −0.158 0.0159 2.945 × 10−23 ––––––– BCL11A 
2 rs6709302 60727629 A 0.320 1982 −0.142 0.0147 3.416 × 10−22 ––––––– BCL11A 
2 rs6732518 60708597 G 0.323 2035 0.133 0.0156 2.197 × 10−17 +++++++ BCL11A 
6 rs9494145 135432552 G 0.070 2039 0.217 0.0258 4.321 × 10−17 +++++++ HMIP 
6 rs9399137 135419018 G 0.060 2027 0.236 0.0294 1.172 × 10−15 +++++++ HMIP 
6 rs4895441 135426573 G 0.089 2025 0.187 0.0236 2.228 × 10−15 +++++++ HMIP 
2 rs10184550 60729294 G 0.319 2040 0.092 0.0147 3.831 × 10−10 +++++++ BCL11A 
2 rs12477097 60698397 C 0.364 1976 −0.079 0.0144 4.451 × 10−08 ––––––– BCL11A 

SNPs with P values < 5 × 10−8 are shown.

*

Indicates the direction of association (positive or negative beta estimate) between HbF and single SNPs in each cohort. The order of cohorts compiled in the meta-analysis is as follows: (1) Cooperative Study of Sickle Cell Disease; (2) Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease; (3) Multicenter Study of Hydroxyurea; (4) Comprehensive Sickle Cell Centers Collaborative Data project; (5) Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Treatment; (6) Duke University Pulmonary Hypertension study; and (7) Silent Infarct Transfusion (SIT) trial.

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