Gene Name Symbol Disease Type Result Population Reference
Arachidonate 5-lipoxygenase ALOX5 PTB + Ghana [32]
Butyrophilin-like 2 (MHC class II associated) BTNL2 PTB − South Africa (Mixed) [33]
Cathepsin Z CTSZ PTB + The Gambia, Guinea-Bissau, Republic of Guinea, South Africa (Cape Town and Malawi) [34]
CD40 molecule, TNF receptor superfamily member 5 CD40 PTB − The Gambia, Guinea-Bissau, Republic of Guinea [35]
CD209 molecule (DC-SIGN) CD209 PTB + The Gambia, Guinea-Bissau, Republic of Guinea, South Africa (Cape Town and Malawi) [36-38]
      − South Africa (Cape Town), Tunisia† [39, 40]
Chemokine (C-C motif) ligand 2 (Monocyte chemoattractant protein-1, MCP1) CCL2 PTB + − Ghana, Zambia South Africa(Cape Town) [41,42] [43]
Chemokine (C-C motif) ligand 3
Chromosome regions: 1p31 (15 Mb from IL12RB2), 21q22 (containing IFNGR2); 2p22-2p16, 8p12-8q11, 8q21-8q23, 9p21-9q12, 11q14-11q23, 19p13-19q12, 22p13-22q11 (no candidate genes)
Chromosome regions: 2p13-2q11 (containing the IL1 complex of genes), 3q23 (containing IL12A), 6p21 (containing MHC complex and TNF); 1p21-1q24, 8p12-8q11, 10q24-10q24, 11p15, 22p13-22q11 (no candidate genes)
Chromosome regions: 7p22-7p21 (containing IL6), 20q13 (containing MC3R and CTSZ)
Chromosome regions: 2q27 (17 Mb from SLC11A1); 2q14, 7q35-7q36, 8p22, 8p12-8q11, 14p13-14q11, 14q21-14q24 (no candidate genes)
Chromosome regions: 2q21-2q24, 5p13-5q22 (no candidate genes)		 CCL3

PTB
TNF levels

PTB


PTB


      Resistance to infection



Resistance to infection  


 −
+  

+  

  (+)



 +




  (+)

South Africa (Malawi)
Uganda

Uganda


Uganda


Uganda  



Uganda  


 

 [44]

[45]

[45]

[45]


[45]


[45]
   
Chromosome region 8q12-q13 (gene not found)   PTB (+) Morocco† [46]
Chromosome 15q microsatellite markers   PTB (+) The Gambia, South Africa [47]
Chromosome Xq microsatellite markers   PTB (+) The Gambia, South Africa [47]
Complement component (3b/4b) receptor 1 (Knops blood group) CR1 PTB + South Africa (Malawi) [44]
C-type lectin domain family 4, member M (LSIGN)
Cytotoxic T-lymphocyte-associated protein 4 		CLEC4M CTLA4 PTB
PTB		 −
+		 South Africa (Cape Town)
Ghana 		[39]
[48]
Fucosyltransferase 2 FUT2 PTB − The Gambia [49]
Group-specific component (vitamin D binding protein)
Intercellular adhesion molecule 1 (CD54)		 GC (DBP) ICAM1 PTB
PTB		 −
−		 South Africa (Xhosa, Cape Coloured) South Africa (Malawi) [50]
  [44]
Interferon, gamma IFNG PTB, TB meningitis + The Gambia, Guinea-Bissau, Republic of Guinea, South Africa (Mixed) [51,52]
    PTB − South Africa (Malawi) [44]
Interferon gamma receptor 1 IFNGR1 PTB, TNF levels + The Gambia, Guinea-Bissau, Republic of Guinea, Uganda [51,53]
    PTB − The Gambia [54]
Interferon gamma receptor 2 IFNGR2 PTB − The Gambia, Guinea-Bissau, Republic of Guinea [51]
Interleukin 1, alpha IL1A PTB + The Gambia [49]
Interleukin 1, beta IL1B PTB + The Gambia [55]
      − The Gambia [49]
Interleukin 1 receptor antagonist IL1RN PTB + The Gambia [49]
      − The Gambia [55]
Interleukin 8 IL8 PTB − The Gambia [12]
Interleukin 10 IL10 PTB, IL10 levels, TNF levels + Ghana, South Africa (Malawi), Uganda [44,53,56]
    PTB − The Gambia, Ghana [49,56]
Interleukin 12 receptor, beta-1 IL12RB1 PTB + Morocco† [57]
Lymphotoxin alpha LTA PTB − South Africa (Malawi) [44]
Major histocompatibility complex HLA PTB + South Africa (Venda) [58]
Mannose-binding lectin (protein C) 2, soluble (opsonic defect) MBL2 PTB − The Gambia, South Africa (Malawi), Tanzania [44,59, 60]
Melanocortin 3 receptor   Nitric oxide synthase 2, inducible MC3R   NOS2 PTB
PTB		 +  
+		 The Gambia, Guinea-Bissau, Republic of Guinea, South Africa (Cape Town and Malawi)
South Africa (Cape Town) 		[34]   [43]
Nucleotide-binding oligomerization domain containing 2 NOD2 PTB − South Africa (Cape Town) [61]
Pentraxin-related gene
Protein tyrosine phosphathase, non-receptor type 22 (lymphoid)		 PTX3
PTPN22		 PTB
PTB		 +
+		 Guinea-Bissau
Morocco† 		[37]
[62]
Purinergic receptor P2X, ligand-gated ion channel, 7 P2RX7 PTB + The Gambia [63]
Solute carrier family 11, member 1 SLC11A1 Clinical TB, IL10 production, PTB, TB meningitis + The Gambia, Republic of Guinea, South Africa (Cape Town and Malawi), Tanzania [44,60,64,65,66,67]
    PTB − The Gambia, Morocco† [68,69]
Solute carrier family 11, member 2 SLC11A2 PTB, TB meningitis − South Africa (Cape Town) [67]
SP110 nuclear body protein SP110 PTB + The Gambia, Guinea-Bissau, Republic of Guinea [70]
      − Ghana, South Africa [71, 72]
Surfactant, pulmonary-associated protein A1 SFTPA1 PTB + Ethiopia [73]
Surfactant, pulmonary-associated protein A2 SFTPA2 PTB + Ethiopia [73]
Toll-interleukin 1 receptor (TIR) domain containing adaptor protein TIRAP PTB, TB meningitis + Algeria† , The Gambia, Guinea-Bissau, Kenya, Republic of Guinea, South Africa (Mixed) [74,75]
    PTB − Ghana [76]
Toll-like receptor 2 TLR2 PTB, TNF levels + Tunisia† , Uganda [53,77]
    PTB − Guinea-Bissau, South Africa (Malawi) [37,44,53]
Toll-like receptor 4 TLR4 PTB, TNF levels + Uganda [53]
    PTB, development of TB in HIV patients − The Gambia, Guinea-Bissau, South Africa (Malawi), Tanzania [37,44,78,79]
Toll-like receptor 9 TLR9 PTB − Guinea-Bissau [37]
Tumor necrosis factor TNF PTB − South Africa (Malawi) [44]
Tumor necrosis factor receptor superfamily, member 1A TNFRSF1A PTB, TNF levels + Uganda [53]
Tumor necrosis factor receptor superfamily, member 1B TNFRSF1B PTB, TNF levels + Ghana, South Africa, Uganda [53,82]
Ubiquitin protein ligase E3A UBE3A PTB + The Gambia, Republic of Guinea, South Africa (KwaZulu-Natal) [80]
Vitamin D (1,25- dihydroxyvitamin D3) receptor VDR PTB + The Gambia, Guinea-Bissau, Republic of Guinea, South Africa (Venda) [18,19,37,58]
      − South Africa (Cape Town and Malawi), Tanzania [81,44,60]
+ indicates a genetic association or linkage was reported (p ≤ 0.05), (+) indicates a suggestive linkage was reported,
− indicates no genetic association was detected
† Country outside sub-Saharan Africa
Table 1: Genetic Associations with Tuberculosis in Africans