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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