Table 1

Association studies on host innate immune genes related to TB pathogenesis

GenePolymorphism(s) (genetic location)Population(s)aAssociation with TBbMolecular mechanism known?Reference(s)
MR1186G/A (exon)ChinaYesNo272
DC-SIGN−336G/A (promoter)South AfricaYesNo17
Colombia, TunisiaNo25,88
SSA, GambiaYesNo247
India, ChinaNo202,275
−871G/A (promoter)South AfricaYesNo17
ChinaNo275
Dectin-1Not identified
TLR1N248S, S602I (exon)USA (African-American)YesNo131
Europe (Caucasian)YesNo239
TLR2R753Q (exon)TurkeyYesNo162
R677W (exon)TunisiaYesNo24
Insertion/deletion (promoter)Guinea-Bissau, USA (Caucasian)YesNo251
TLR4D299G (exon)Gambia, Guinea-BissauNo157,166
TLR8rs3764880 (exon)Indonesia, RussiaYesNo56
TLR9rs352143, rs574386 (exon)USA (Caucasian), USA (African-American)YesNo251
TIRAPS180L (exon)West AfricaYesYes110
Indonesia, Russia, GhanaNo156
Meta-analysis (China)No142
CR1Q1022H (exon)MalawiYesYes76
CR3Not identified
NOD1Not identified
NOD2P268S, R702W, A725G (exon)USA (African-American)YesNo10
CD14−159C/T (promoter)MexicoYesNo184
KoreaYesYes108
P2X71513A/C (exon)Gambia, ChinaNo119,262
Mexico, RussiaYesNo145,161
IndiaYesNo205,209
Meta-analysis (China)YesNo263
Meta-analysis (China)No257
−762T/C (promoter)Gambia, IndiaYesNo119,209
Mexico, Russia, ChinaNo145,161,262
Meta-analysis (China)No263
VDRApaI (exon)Guinea-BissauYesNo166
TanzaniaNo211
BsmI (exon)Meta-analysis (Asia)YesNo85
Meta-analysis (Africa)No85
FolkI (exon)ChinaYesNo125
TanzaniaNo211
TaqI (exon)GambiaYesNo22
Cambodia, TanzaniaNo57,211
FolkI-BsmI-ApaI-TaqIWest AfricaYesNo33
haplotypeSouth AfricaYesNo127
SP-A11416C/T (intron)IndiaYesNo134
307G/A,776C/T (exon)EthiopiaYesNo138
SP-A21382C/G (intron)IndiaYesNo134
355C/G, 751A/C (exon)EthiopiaYesNo138
MBLO alleleIndiaYesNo203
O, X allelesDenmarkMixed212
B alleleUSA (African-American)YesNo68
O alleleUSA (Caucasian)No68
O,H,L,X,Y,P,Q allelesChinaNo126
AO genotypeTanzaniaNo211
HYA/HYA, LYB/LYD haplotypesItalyYesNo39
AA,AO,OO genotypesMeta-analysis (Australia)No59
B alleleIndiaYesNo210
G57E (exon)GhanaYesNo228
TNF−238G/A (promoter)ColombiaYesNo53
IranNo5
−238GG genotypeIranYesNo5
−308G/A (promoter)Colombia, IranYesNo53,141
KoreaNo163
Meta-analysis (Brazil)No169
Meta-analysis (China)No256
IL-1β−511T/C (promoter)GambiaYesNo11
ColombiaNo90
3953T/C (exon)GambiaNo11
3953 T alleleColombiaYesNo90
IL-6−174G/C (promoter)Colombia, IndiaNo97,201
−174GG genotypeIranYesYes5
−174G alleleCanada (aboriginals)YesYes115
IL-8−251T/A (promoter)GambiaNo50
−251A alleleUSA (African-American)YesNo132
781T/C (exon)GambiaNo50
IL-10−1082G/A (promoter)CambodiaYesNo57
Brazil, Spain, PakistanNo7,128,169
Meta-analysis (China)YesNo270
−1082G alleleTurkeyYesNo9,168
−1082 allele/genotypeEgyptNo154
−592A/C (promoter)KoreaYesNo207
IL-18−607C/A, −137G/AIndiaNo94
−667G/T, −618A/CKoreaNo117
AGA, CCA haplotypesChinaYesNo93
MCP-1 (CCL2)−2518A/G (promoter)Zambia, TunisiaYesNo28,37
Hong KongNo45
−2518 GG genotypeMexico, South KoreaYesYes78
−2518AA genotypeZambia, Mexico, South KoreaNo37,78
−362G/C (promoter)GhanaYesNo227
RANTES (CCL5)−403G/A,−28C/G,ln1T/CHong KongNo45
ACT, GCC haplotypesHong KongYesNo45
−403G/A, −28C/G or GG, AC haplotypesSpain, TunisiaYesNo26,192
CXCL10−135G/A (promoter)ChinaYesNo225
−872G/A, −1447A/GChinaNo225
iNOS (NOS2)−1026G alleleBrazilYesNo102
−954G/C (promoter)MexicoNo78
CCTTT (microsatellite)ColombiaYesNo89
TAAA (microsatellite)ColombiaNo89
rs2274894 (intron), rs7215373 (3′-UTR)USA (African-American)YesNo250
rs9282799, rs8078340 (promoter) haplotypesSouth AfricaYesNo150
SLC11A1274C allele (exon)USA (Children)YesNo137
(NRAMP1)3′-UTRGambia, South KoreaYesNo23,187
ChinaYesNo103,118
D543N (exon)Gambia, ChinaYesNo23,118
5′(GT)n (promoter)Gambia, South AfricaYesNo12,23,99
USA, TanzaniaYesNo130,211
USA, MoroccoNo67,249
INT4 (intron)Gambia, ChinaYesNo23,271
ChinaNo103
3′-UTR, D543NMorocco, ThailandNo67,248
CambodiaYesNo57
3′-UTR, D543N, 5′(GT)nMeta-analysis (China)YesNo121
3′-UTR, D543N, 5′(GT)n, INT4TurkeyNo8
Meta-analysis (China)YesNo122
  • a SSA, sub-Saharan Africa.

  • b Refers to mainly pulmonary TB.