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 | |
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 | ||
Osteonecrosis | TGFB/SMAD/BMP pathway, KL, ANXA2 | |
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 | |
Pulmonary hypertension | ACVRL1, BMP6, ADRB1 | [139] |
MAPK8 | [140] | |