Human genetic variability and susceptibility to pulmonary TB

European Respiratory Monograph

Volumn 58, Issue , 2012, Pages 38-58

  Thye, Thorsten ^a   Meyer, Christian G ^a  

^a BERNHARD NOCHT INSTITUTE FOR TROPICAL MEDICINE   (Germany)

Author keywords

Candidate gene studies; Genome wide association studies; Genome wide linkage studies; Tuberculosis susceptibility

Indexed keywords

EID: 84870847304     PISSN: 1025448X     EISSN: 20756674     Source Type: Book Series    
DOI: 10.1183/1025448x.10024812     Document Type: Article

References (127)

1. Sørensen TI, Nielsen GG, Andersen PK, et al. Genetic and environmental influences on premature death in adult adoptees. N Engl J Med 1988; 318: 727-732.
2. Stocks P, Karn M. Fresh evidence on the inheritance factor in tuberculosis. Ann Eugenics 1928; 3: 84-95.
3. Kaufmann SH. Envisioning future strategies for vaccination against tuberculosis. Nat Rev Immunol 2006; 6: 699-704.
4. Diehl K, Von Verschuer O. Der Erbeinfluss bei der Tuberculose. [The influence of heritability on tuberculosis]. Jena, Gustav Fischer, 1933.
5. Dehlinger E, Künsch M. Zwillingstuberkulose. [Tuberculosis in twins]. Beitr Klin Tbk Bd 1938; 98: 275.
6. Kallmann FJ, Reisner D. Twin studies on the significance of genetic factors in tuberculosis. Am Rev Tuberc 1943; 47: 549-574.
7. Simonds B. Tuberculosis in twins: a report for the Prophit Committee of the Royal College of Physicians. London, Pitman Medical Publishing, 1963.
8. Comstock GW. Tuberculosis in twins: a re-analysis of the Prophit survey. Am Rev Respir Dis 1978; 117: 621-624.
9. Stead WW, Senner JW, Reddick WT, et al. Racial differences in susceptibility to infection by Mycobacterium tuberculosis. N Engl J Med 1990; 322: 422-427.
10. Thye T, Niemann S, Walter K, et al. Variant G57E of mannose binding lectin associated with protection against tuberculosis caused by Mycobacterium africanum but not by M. tuberculosis. PLoS One 2011; 6: e20908.
11. Morton NE. Segregation and linkage analysis. Prog Clin Biol Res 1982; 103: 3-14.
12. Morton NE. Fifty years of genetic epidemiology, with special reference to Japan. J Hum Genet 2006; 51: 269-277.
13. Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997; 387: 80-83.
14. Brobby GW, Müller-Myhsok B, Horstmann RD. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med 1998; 338: 548-550.
15. Meyer CG, Amedofu GK, Brandner JM, et al. Selection for deafness? Nat Med 2002; 8: 1332-1333.
16. Wiart A, Jepson A, Banya W, et al. Quantitative association tests of immune responses to antigens of Mycobacterium tuberculosis: a study of twins in West Africa. Twin Res 2004; 7: 578-588.
17. Kusuhara K, Yamamoto K, Okada K, et al. Association of IL12RB1 polymorphisms with susceptibility to and severity of tuberculosis in Japanese: a gene-based association analysis of 21 candidate genes. Int J Immunogenet 2007; 34: 35-44.
18. Thye T, Nejentsev S, Intemann CD, et al. MCP-1 promoter variant -362C associated with protection from pulmonary tuberculosis in Ghana, West Africa. Hum Mol Genet 2009; 18: 381-388.
19. Feng WX, Flores-Villanueva PO, Mokrousov I, et al. CCL2-2518 (A/G) polymorphisms and tuberculosis susceptibility: a meta-analysis. Int J Tuberc Lung Dis 2012; 16: 150-156.
20. Xiao J, Sun L, Yan H, et al. Metaanalysis of P2X7 gene polymorphisms and tuberculosis susceptibility. FEMS Immunol Med Microbiol 2010; 60: 165-170.
21. Yim JJ, Lee HW, Lee HS, et al. The association between microsatellite polymorphisms in intron II of the human Toll-like receptor 2 gene and tuberculosis among Koreans. Genes Immun 2006; 7: 150-155.
22. Jepson A, Banya W, Sisay-Joof F, et al. Quantification of the relative contribution of major histocompatibility complex (MHC) and non-MHC genes to human immune responses to foreign antigens. Infect Immun 1997; 65: 872-876.
23. Vidal SM, Malo D, Vogan K, et al. Natural resistance to infection with intracellular parasites: isolation of a candidate for BCG. Cell 1993; 73: 469-485.
24. Bellamy R, Ruwende C, Corrah T, et al. Variations in the NRAMP1 gene and susceptibility to tuberculosis in West Africans. N Engl J Med 1998; 338: 640-644.
25. Li X, Yang Y, Zhou F, et al. SLC11A1 (NRAMP1) polymorphisms and tuberculosis susceptibility: updated systematic review and meta-analysis. PLoS One 2011; 6: e15831.
26. Gomez LM, Anaya JM, Martin J. Genetic influence of PTPN22 R620W polymorphism in tuberculosis. Hum Immunol 2005; 66: 1242-1247.
27. Lamsyah H, Rueda B, Baassi L, et al. Association of PTPN22 gene functional variants with development of pulmonary tuberculosis in Moroccan population. Tissue Antigens 2009; 74: 228-232.
28. Pan H, Yan BS, Rojas M, et al. Ipr1 gene mediates innate immunity to tuberculosis. Nature 2005; 434: 767-772.
29. Jamieson SE, Miller EN, Black GF, et al. Evidence for a cluster of genes on chromosome 17q11-q21 controlling susceptibility to tuberculosis and leprosy in Brazilians. Genes Immun 2004; 5: 46-57.
30. Flores-Villanueva PO, Ruiz-Morales JA, Song CH, et al. A functional promoter polymorphism in monocyte chemoattractant protein-1 is associated with increased susceptibility to pulmonary tuberculosis. J Exp Med 2005; 202: 1649-1658.
31. Gómez LM, Anaya JM, Vilchez JR, et al. A polymorphism in the inducible nitric oxide synthase gene is associated with tuberculosis. Tuberculosis (Edinb) 2007; 87: 288-294.
32. Correa PA, Gomez LM, Cadena J, et al. Autoimmunity and tuberculosis. Opposite association with TNF polymorphism. J Rheumatol 2005; 32: 219-224.
33. Merza M, Farnia P, Anoosheh S, et al. The NRAMPI, VDR and TNF-a gene polymorphisms in Iranian tuberculosis patients: the study on host susceptibility. Braz J Infect Dis 2009; 13: 252-256.
34. Fan HM, Wang Z, Feng FM, et al. Association of TNF-a-238G/A and 308 G/A gene polymorphisms with pulmonary tuberculosis among patients with coal worker's pneumoconiosis. Biomed Environ Sci 2010; 23: 137-145.
35. Tosh K, Campbell SJ, Fielding K, et al. Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa. Proc Natl Acad Sci USA 2006; 103: 10364-10368.
36. Thye T, Browne EN, Chinbuah MA, et al. No associations of human pulmonary tuberculosis with Sp110 variants. J Med Genet 2006; 43: e32.
37. Szeszko JS, Healy B, Stevens H, et al. Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis. Hum Genet 2007; 121: 155-160.
38. Abhimanyu Jha P, Jain A, et al. Genetic association study suggests a role for SP110 variants in lymph node tuberculosis but not pulmonary tuberculosis in north Indians. Hum Immunol 2011; 72: 576-580.
39. Juffermans NP, Verbon A, van Deventer SJ, et al. Tumor necrosis factor and interleukin-1 nhibitors as markers of disease activity of tuberculosis. Am J Respir Crit Care Med 1998; 157: 1328-1331.
40. Wilkinson RJ, Patel P, Llewelyn M, et al. Influence of polymorphism in the genes for the interleukin (IL)-1 receptor antagonist and IL-1b on tuberculosis. J Exp Med 1999; 189: 1863-1874.
41. Awomoyi AA, Charurat M, Marchant A, et al. Polymorphism in IL1B: IL1B-511 association with tuberculosis and decreased lipopolysaccharide-induced IL-1b in IFN-c primed ex-vivo whole blood assay. J Endotoxin Res 2005; 11: 281-286.
42. Morris GA, Edwards DR, Hill PC, et al. Interleukin 12B (IL12B) genetic variation and pulmonary tuberculosis: a study of cohorts from The Gambia, Guinea-Bissau, United States and Argentina. PLoS One 2011; 6: e16656.
43. Remus N, El Baghdadi J, Fieschi C, et al. Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco. J Infect Dis 2004; 190: 580-587.
44. Intemann CD, Thye T, Förster B, et al. MCP1 haplotypes associated with protection from pulmonary tuberculosis. BMC Genet 2011; 12: 34.
45. Wang Q, Zhan P, Qiu LX, et al. TNF-308 gene polymorphism and tuberculosis susceptibility: a meta-analysis involving 18 studies. Mol Biol Rep 2012; 39: 3393-3400.
46. Pan H, Dai Y, Tang S, et al. Polymorphisms of NOD2 and the risk of tuberculosis: avalidation study in the Chinese population. Int J Immunogenet 2012; 39: 233-240.
47. Rockett KA, Brookes R, Udalova I, et al. 1,25-Dihydroxyvitamin D3 induces nitric oxide synthase and suppresses growth of Mycobacterium tuberculosis in a human macrophage-like cell line. Infect Immun 1998; 66: 5314-5321.
48. Gao L, Tao Y, Zhang L, et al. Vitamin D receptor genetic polymorphisms and tuberculosis: updated systematic review and meta-analysis. Int J Tuberc Lung Dis 2010; 14: 15-23.
49. Cooke GS, Campbell SJ, Sillah J, et al. Polymorphism within the interferon-c/receptor complex is associated with pulmonary tuberculosis. Am J Respir Crit Care Med 2006; 174: 339-343.
50. Fraser DA, Bulat-Kardum L, Knezevic J, et al. Interferon-c receptor-1 gene polymorphism in tuberculosis patients from Croatia. Scand J Immunol 2003; 57: 480-484.
51. Sahiratmadja E, Baak-Pablo R, de Visser AW, et al. Association of polymorphisms in IL-12/IFN-c pathway genes with susceptibility to pulmonary tuberculosis in Indonesia. Tuberculosis (Edinb) 2007; 87: 303-311.
52. Hijikata M, Shojima J, Matsushita I, et al. Association of IFNGR2 gene polymorphisms with pulmonary tuberculosis among the Vietnamese. Hum Genet 2012; 131: 675-682.
53. Kettaneh A, Seng L, Tiev KP, et al. Human leukocyte antigens and susceptibility to tuberculosis: a meta-analysis of case-control studies. Int J Tuberc Lung Dis 2006; 10: 717-725.
54. Wang J, Tang S, Shen H. Association of genetic polymorphisms in the IL12-IFNG pathway with susceptibility to and prognosis of pulmonary tuberculosis in a Chinese population. Eur J Clin Microbiol Infect Dis 2010; 29: 1291-1295.
55. Tso HW, Lau YL, Tam CM, et al. Associations between IL12B polymorphisms and tuberculosis in the Hong Kong Chinese population. J Infect Dis 2004; 190: 913-919.
56. Austin CM, Ma X, Graviss EA. Common nonsynonymous polymorphisms in the NOD2 gene are associated with resistance or susceptibility to tuberculosis disease in African Americans. J Infect Dis 2008; 197: 1713-1716.
57. Delgado JC, Baena A, Thim S, et al. Ethnic-specific genetic associations with pulmonary tuberculosis. J Infect Dis 2002; 186: 1463-1468.
58. Taype CA, Shamsuzzaman S, Accinelli RA, et al. Genetic susceptibility to different clinical forms of tuberculosis in the Peruvian population. Infect Genet Evol 2010; 10: 495-504.
59. Ma X, Reich RA, Wright JA, et al. Association between interleukin-8 gene alleles and human susceptibility to tuberculosis disease. J Infect Dis 2003; 188: 349-355.
60. Cooke GS, Campbell SJ, Fielding K, et al. Interleukin-8 polymorphism is not associated with pulmonary tuberculosis in The Gambia. J Infect Dis 2004; 189: 1545-1546.
61. Zhang J, Chen Y, Nie XB, et al. Interleukin-10 polymorphisms and tuberculosis susceptibility: a meta-analysis. Int J Tuberc Lung Dis 2011; 15: 594-601.
62. Thye T, Browne EN, Chinbuah MA, et al. IL10 haplotype associated with tuberculin skin test response but not with pulmonary tuberculosis. PLoS One 2009; 4: e5420.
63. Möller M, Flachsbart F, Till A, et al. A functional haplotype in the 39untranslated region of TNFRSF1B is associated with tuberculosis in two African populations. Am J Respir Crit Care Med 2010; 181: 388-393.
64. Khor CC, Chapman SJ, Vannberg FO, et al. A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis. Nat Genet 2007; 39: 523-528.
65. Ogus AC, Yoldas B, Ozdemir T, et al. The Arg753GLn polymorphism of the human toll like receptor 2 gene in tuberculosis disease. Eur Respir J 2004; 23: 219-223.
66. Ben-Ali M, Barbouche MR, Bousnina S, et al. Toll-like receptor 2 Arg677Trp polymorphism is associated with susceptibility to tuberculosis in Tunisian patients. Clin Diagn Lab Immunol 2004; 11: 625-626.
67. Velez DR, Wejse C, Stryjewski ME, et al. Variants in toll-like receptors 2 and 9 influence susceptibility to pulmonary tuberculosis in Caucasians, African-Americans, and West Africans. Hum Genet 2010; 127: 65-73.
68. Davila S, Hibberd ML, Hari Dass R, et al. Genetic association and expression studies indicate a role of toll-like receptor 8 in pulmonary tuberculosis. PLoS Genet 2008; 4: e1000218.
69. Hawn TR, Dunstan SJ, Thwaites GE, et al. A polymorphism in Toll-interleukin 1 receptor domain containing adaptor protein is associated with susceptibility to meningeal tuberculosis. J Infect Dis 2006; 194: 1127-1134.
70. Singh SB, Davis AS, Taylor GA, et al. Human IRGM induces autophagy to eliminate intracellular mycobacteria. Science 2006; 313: 1438-1441.
71. Ma MJ, Wang HB, Li H, et al. Genetic variants in MARCO are associated with the susceptibility to pulmonary tuberculosis in Chinese Han population. PLoS One 2011; 6: e24069.
72. Thye T, Vannberg FO, Wong SH, et al. Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. Nat Genet 2010; 42: 739-741.
73. Thye T, Owusu-Dabo E, Vannberg FO, et al. Common variants at 11p13 are associated with susceptibility to tuberculosis. Nat Genet 2012; 44: 257-259.
74. Mahasirimongkol S, Yanai H, Mushiroda T, et al. Genome-wide association studies of tuberculosis in Asians identify distinct at-risk locus for young tuberculosis. J Hum Genet 57: 363-367.
75. Png E, Alisjahbana B, Sahiratmadja E, et al. A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians. BMC Med Genet 2012; 13: 5.
76. Cui Y, Li G, Li S, et al. Designs for linkage analysis and association studies of complex diseases. Methods Mol Biol 2010; 620: 219-242.
77. Bellamy R, Beyers N, McAdam KP, et al. Genetic susceptibility to tuberculosis in Africans: a genome-wide scan. Proc Natl Acad Sci USA 2000; 97: 8005-8009.
78. Miller EN, Jamieson SE, Joberty C, et al. Genome-wide scans for leprosy and tuberculosis susceptibility genes in Brazilians. Genes Immun 2004; 5: 63-67.
79. Baghdadi JE, Orlova M, Alter A, et al. An autosomal dominant major gene confers predisposition to pulmonary tuberculosis in adults. J Exp Med 2006; 203: 1679-1684.
80. Cooke GS, Campbell SJ, Bennett S, et al. Mapping of a novel susceptibility locus suggests a role for MC3R and CTSZ in human tuberculosis. Am J Respir Crit Care Med 2008; 178: 203-207.
81. Stein CM, Zalwango S, Malone LL, et al. Genome scan of M. tuberculosis infection and disease in Ugandans. PLoS One 2008; 3: e4094.
82. Mahasirimongkol S, Yanai H, Nishida N, et al. Genome-wide SNP-based linkage analysis of tuberculosis in Thais. Genes Immun 2009; 10: 77-83.
83. Cobat A, Gallant CJ, Simkin L, et al. Two loci control tuberculin skin test reactivity in an area hyperendemic for tuberculosis. J Exp Med 2009; 206: 2583-2591.
84. Jorgensen TJ, Ruczinski I, Kessing B, et al. Hypothesis-driven candidate gene association studies: practical design and analytical considerations. Am J Epidemiol 2009; 170: 986-993.
85. Stockton JC, Howson JM, Awomoyi AA, et al. Polymorphismin NOD2, Crohn's disease, and susceptibility to pulmonary tuberculosis. FEMS Immunol Med Microbiol 2004; 41: 157-160.
86. Möller M, Nebel A, Kwiatkowski R, et al. Host susceptibility to tuberculosis: CARD15 polymorphisms in a South African population. Mol Cell Probes 2007; 21: 148-151.
87. Zhao M, Jiang F, Zhang W, et al. A novel single nucleotide polymorphism within the NOD2 gene is associated with pulmonary tuberculosis in the Chinese Han, Uygur and Kazak populations. BMC Infect Dis 2012; 12: 91.
88. Fitness J, Floyd S, Warndorff DK, et al. Large-scale candidate gene study of tuberculosis susceptibility in the Karonga district of northern Malawi. Am J Trop Med Hyg 2004; 71: 341-349.
89. Tailleux L, Schwartz O, Herrmann JL, et al. DC-SIGN is the major Mycobacterium tuberculosis receptor on human dendritic cells. J Exp Med 2003; 197: 121-127.
90. Miao R, Li J, Sun Z, et al. Association between the CD209 promoter -336A/G polymorphism and susceptibility to tuberculosis: a meta-analysis. Respirology 2012; 17: 847-853.
91. Barreiro LB, Neyrolles O, Babb CL, et al. Promoter variation in the DC-SIGN-encoding gene CD209 is associated with tuberculosis. PLoS Med 2006; 3: e20.
92. Ben-Ali M, Barreiro LB, Chabbou A, et al. Promoter and neck region length variation of DC-SIGN is not associated with susceptibility to tuberculosis in Tunisian patients. Hum Immunol 2007; 68: 908-912.
93. Meyer CG, May J, Stark K. Human leukocyte antigens in tuberculosis and leprosy. Trends Microbiol 1998; 6: 148-154.
94. Wilkinson RJ, Llewelyn M, Toossi Z, et al. Influence of vitamin D deficiency and vitamin D receptor polymorphisms on tuberculosis among Gujarati Asians in west London: a case-control study. Lancet 2000; 355: 618-621.
95. Nejentsev S, Thye T, Szeszko JS, et al. Analysis of association of the TIRAP (MAL) S180L variant and tuberculosis in three populations. Nat Genet 2008; 40: 261-262.
96. Miao R, Li J, Sun Z, et al. Meta-analysis on the association of TIRAP S180L variant and tuberculosis susceptibility. Tuberculosis (Edinb) 2011; 91: 268-272.
97. Liu W, Cao WC, Zhang CY, et al. VDR and NRAMP1 gene polymorphisms in susceptibility to pulmonary tuberculosis among the Chinese Han population: a case-control study. Int J Tuberc Lung Dis 2004; 8: 428-434.
98. Sly LM, Lopez M, Nauseef WM, et al. 1alpha,25-Dihydroxyvitamin D3-induced monocyte antimycobacterial activity is regulated by phosphatidylinositol 3-kinase and mediated by the NADPH-dependent phagocyte oxidase. J Biol Chem 2001; 276: 35482-3593.
99. Tang NL, Fan HP, Chang KC, et al. Genetic association between a chemokine gene CXCL-10 (IP-10, interferon gamma inducible protein 10) and susceptibility to tuberculosis. Clin Chim Acta 2009; 406: 98-102.
100. Thye T, Scarisbrick G, Browne EN, et al. CTLA4 autoimmunity-associated genotype contributes to severe pulmonary tuberculosis in an African population. PLoS One 2009; 4: e6307.
101. Gomez LM, Camargo JF, Castiblanco J, et al. Analysis of IL1B, TAP1, TAP2 and IKBL polymorphisms on susceptibility to tuberculosis. Tissue Antigens 2006; 67: 290-296.
102. de Albuquerque AC, Rocha LQ, de Morais Batista AH, et al. Association of polymorphism +874 A/T of interferon-c and susceptibility to the development of tuberculosis: meta-analysis. Eur J Clin Microbiol Infect Dis 2012; [Epub ahead of print DOI: 10.1007/s10096-012-1660-4].
103. Newport MJ, Awomoyi AA, Blackwell JM. Polymorphism in the interferon-gamma receptor-1 gene and susceptibility to pulmonary tuberculosis in The Gambia. Scand J Immunol 2003; 58: 383-385.
104. Akahoshi M, Nakashima H, Miyake K, et al. Influence of interleukin-12 receptor beta1 polymorphisms on tuberculosis. Hum Genet 2003; 112: 237-243.
105. Velez Edwards DR, Tacconelli A, Wejse C, et al. MCP1 SNPs and pulmonary tuberculosis in cohorts from West Africa, the USA and Argentina: lack of association or epistasis with IL12B polymorphisms. PLoS One 2012; 7: e32275.
106. Fiorenza G, Rateni L, Farroni MA, et al. TNF-a, TGF-b and NO relationship in sera from tuberculosis (TB) patients of different severity. Immunol Lett 2005; 98: 45-48.
107. Scola L, Crivello A, Marino V, et al. IL-10 and TNF-alpha polymorphisms in a sample of Sicilian patients affected by tuberculosis: implication for ageing and life span expectancy. Mech Ageing Dev 2003; 124: 569-572.
108. Bafica A, Scanga CA, Serhan C, et al. Host control of Mycobacterium tuberculosis is regulated by 5-lipoxygenasedependent lipoxin production. J Clin Invest 2005; 115: 1601-1606.
109. Herb F, Thye T, Niemann S, et al. ALOX5 variants associated with susceptibility to human pulmonary tuberculosis. Hum Mol Genet 2008; 17: 1052-1060.
110. Intemann CD, Thye T, Niemann S, et al. Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains. PLoS Pathog 2009; 5: e1000577.
111. Che N, Li S, Gao T, et al. Identification of a novel IRGM promoter single nucleotide polymorphism associated with tuberculosis. Clin Chim Acta 2010; 411: 1645-1649.
112. King KY, Lew JD, Ha NP, et al. Polymorphic allele of human IRGM1 is associated with susceptibility to tuberculosis in African Americans. PLoS One 2011; 6: e16317.
113. Denholm JT, McBryde ES, Eisen DP. Mannose-binding lectin and susceptibility to tuberculosis: a meta-analysis. Clin Exp Immunol 2010; 162: 84-90.
114. Blackwell JM, Black GF, Peacock CS, et al. Immunogenetics of leishmanial and mycobacterial infections: the Belem Family Study. Philos Trans R Soc Lond B Biol Sci 1997; 352: 1331-1345.
115. Möller M, Nebel A, Valentonyte R, et al. Investigation of chromosome 17 candidate genes in susceptibility to tuberculosis in a South African population. Tuberculosis (Edinb) 2009; 89: 189-194.
116. Velez DR, Hulme WF, Myers JL, et al. NOS2A, TLR4, and IFNGR1 interactions influence pulmonary tuberculosis susceptibility in African-Americans. Hum Genet 2009; 126: 643-653.
117. Babb C, Keet EH, van Helden PD, et al. SP110 polymorphisms are not associated with pulmonary tuberculosis in a South African population. Hum Genet 2007; 121: 521-522.
118. Png E, Alisjahbana B, Sahiratmadja E, et al. Polymorphisms in SP110 are not associated with pulmonary tuberculosis in Indonesians. Infect Genet Evol 2012; 12: 1319-1323.
119. National Center for Biotechnology Information. dbSNP database. www.ncbi.nlm.nih.gov/snp Date last accessed: July 3, 2012.
120. National Center for Biotechnology Information. HapMap database. http://hapmap.ncbi.nlm.nih.gov/ Date last accessed: July 3, 2012.
121. 1000 Genomes Project www.1000genomes.org/ Date last accessed: July 3, 2012.
122. Harvard University. PLINK. http://pngu.mgh.harvard.edu/,purcell/plink/ Date last accessed: July 3, 2012.
123. SNPTEST. https://mathgen.stats.ox.ac.uk/genetics_software/snptest/snptest.html Date last accessed: July 3, 2012.
124. Ziegler A, König IR, Thompson JR. Biostatistical aspects of genome-wide association studies. Biom J 2008; 50: 8-28.
125. National Human Genome Institute. A Catalog of Published Genome-Wide Association Studies. www.genome.gov/gwastudies/index.cfm?pageid526525384#searchForm Date last accessed: July 3, 2012.
126. de Wit E, van der Merwe L, van Helden PD, et al. Gene-gene interaction between tuberculosis candidate genes in a South African population. Mamm Genome 2011; 22: 100-110.
127. Costa GN, Magno LA, Santana CV, et al. Genetic interaction between NAT2, GSTM1, GSTT1, CYP2E1, and environmental factors is associated with adverse reactions to anti-tuberculosis drugs. Mol Diagn Ther 2012; 16: 241-250.