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Table 1 Candidate genes and subphenotypes of sickle cell anemia

From: Genomic approaches to identifying targets for treating β hemoglobinopathies

Disease sub-phenotype Genes involved References
Stroke, silent infarction ANXA2, TGFBR3, TEK increased stroke risk [115]
ADCY9 decreased stroke risk
  TGFBR3, BMP6, SELP, and others [100]
  VCAM1 [116]
  IL4R, TNF, ADRB2, VCAM1, LDLR and others [117]
Pain events MBL2 [118, 119]
  COMMD7 [120]
Acute chest syndrome TGFBR3, SMAD [121]
  HMOX [122]
  eNOS [123]
  GST [124]
  COMMD7 [120]
Infections MBL2-low producing variants protective [125]
  TGFB/SMAD/BMP pathway [126]
  CCL5 [127]
  HLA [128, 129]
Osteonecrosis TGFB/SMAD/BMP pathway, KL, ANXA2 [130, 131]
Priapism KL [132]
  TGFBR3, AQP1, and ITGAV [133]
Leg ulcers KL, TGFBR3, TEK [134]
  HLA-B35 [135]
Renal disease MYH9, APOL1 [136]
  BMPR1B [137]
Bilirubin/cholelithiasis UGTA1A [22, 23, 138]
Pulmonary hypertension ACVRL1, BMP6, ADRB1 [139]
  MAPK8 [140]
Adapted from [8, 14]   
  1. See text for further discussion. Many associations have been found but few have been definitively validated [14] and the functional or mechanistic basis of these associations have not been reported