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. Author manuscript; available in PMC: 2010 Oct 13.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2008;9:403–433. doi: 10.1146/annurev.genom.9.081307.164258

Table 1.

Infectious disease loci

Infectious disease Known genes associated with disease susceptibility in Africans Effect of genetic loci on infection or disease progression References
HIV/AIDS Chemokine receptor 2 (CCR2) CCR-2 64I allele associated with ↓ disease progression (146, 235)
Human leukocyte antigen (HLA) Locus HLA A2/6802 supertype and HLA DRB1*01 associated with ↓ HIV infection in female sex workers from East Africa (121)
Killer immunoglobin- like receptors (KIR) KIR3DS1 in combination with HLA-B Bw4--80Ile associated with ↓ disease progression in AfricanAmericans and West African sex workers (95, 126)
Interferon regulatory factor (IRF-1) Three polymorphisms (located at 619, microsatellite region, and 6516 of genes) associated with ↓ susceptibility to infection in East African sex workers (15)
TRIM5α 136Q and 43Y alleles protect against HIV infection in African Americans (108)
APOBEC3G 186R allele associated with ↑ disease progression in African Americans (8)
CUL5 Haplotype10 associated with ↑ disease progression of HIV-1 in African Americans (9)
Tuberculosis Human homolog of natural-resistance--- associated macrophage protein 1 (NRAMP1) Several polymorphisms (5’ microsatellite repeat, INT4,, and a deletion in 3’ UTR) associated with ↑ risk for tuberculosis in East and West Africans ( 19, 20a, 188)
UBE3A 7-bp deletion at 5’ end of UBE3A gene associated with ↑ susceptibility in West African families (27)
Chromosome 15 and X chromosome Unknown loci on these chromosomes associated with ↑ tuberculosis susceptibility (20)
Human leukocyte antigen (HLA) locus DRB1*1302 allele and DQB1*0301— 0304 alleles associated with ↑ tuberculosis susceptibility in Venda population from South Africa (115)
Vitamin D receptor (VDR) locus F-b-A-T haplotype associated with ↓ susceptibility in a South African population (115)
Vitamin D receptor VDR) locus Polymorphism at codon 352 of VDR gene associated with ↓susceptibility in Gambian population (20)
Vitamin D receptor (VDR) locus Polymorphisms (FokI and ApaI) associated with ↑ susceptibility in West African families. (149)
CD209 Promoter −336G allele associated with ↓ susceptibility in West Africa and Malawi (215)
Promoter −336A and −871G alleles associated with ↓ susceptibility in admixed colored population from South Africa (18)
Intron 6 variant associated with ↑ susceptibility in West African population (149)
Pentraxin 3 (PTX3) G-A-G haplotype associated with ↓ susceptibility in West Africa (149)
Malaria β-globin gene HbS, HbC, and HbE alleles associated with ↓ malaria susceptibility in East and West Africans (13a, 216a)
α-globin gene α+-thalassemias associated with ↓ malaria susceptibility in East Africans (58a)
β-globin/α-globin genes HbS and α+-thalassemia variants inherited together associated with ↑ susceptibility in East Africans ( 232)
Duffy gene FY*O allele associated with ↓ malaria susceptibility in Africans (83, 86)
Glucose 6-phosphate dehydrogenase (G6PD) G6PD A- allele associated with ↓ malaria susceptibility in West Africans (67)
Human leukocyte antigen (HLA) locus HLA-B53 and HLA-DR.B1_1302 alleles associated with ↓ malaria susceptibility in West Africans (67)
Chromosome 10 Chromosome 10p15.3--10p14 associated with ↑ malaria susceptibility in Africans (199)
Interleukin-4 (IL-4) IL-4 −590 T allele associated with ↓ malaria susceptibility in the Fulani of Mali and Burkino Faso (213)