Skip to main content
PMC home page
Thorax logoLink to Thorax
. 1998 Jul;53(7):588–593. doi: 10.1136/thx.53.7.588

Genetic susceptibility to tuberculosis in human populations

R Bellamy 1
PMCID: PMC1745258  PMID: 9797760

Full Text

The Full Text of this article is available as a PDF (116.2 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bellamy R., Ruwende C., Corrah T., McAdam K. P., Whittle H. C., Hill A. V. Variations in the NRAMP1 gene and susceptibility to tuberculosis in West Africans. N Engl J Med. 1998 Mar 5;338(10):640–644. doi: 10.1056/NEJM199803053381002. [DOI] [PubMed] [Google Scholar]
  2. Berry R., Stevens T. J., Walter N. A., Wilcox A. S., Rubano T., Hopkins J. A., Weber J., Goold R., Soares M. B., Sikela J. M. Gene-based sequence-tagged-sites (STSs) as the basis for a human gene map. Nat Genet. 1995 Aug;10(4):415–423. doi: 10.1038/ng0895-415. [DOI] [PubMed] [Google Scholar]
  3. Bothamley G. H., Beck J. S., Schreuder G. M., D'Amaro J., de Vries R. R., Kardjito T., Ivanyi J. Association of tuberculosis and M. tuberculosis-specific antibody levels with HLA. J Infect Dis. 1989 Mar;159(3):549–555. doi: 10.1093/infdis/159.3.549. [DOI] [PubMed] [Google Scholar]
  4. Brahmajothi V., Pitchappan R. M., Kakkanaiah V. N., Sashidhar M., Rajaram K., Ramu S., Palanimurugan K., Paramasivan C. N., Prabhakar R. Association of pulmonary tuberculosis and HLA in south India. Tubercle. 1991 Jun;72(2):123–132. doi: 10.1016/0041-3879(91)90039-u. [DOI] [PubMed] [Google Scholar]
  5. Casanova J. L., Jouanguy E., Lamhamedi S., Blanche S., Fischer A. Immunological conditions of children with BCG disseminated infection. Lancet. 1995 Aug 26;346(8974):581–581. doi: 10.1016/s0140-6736(95)91421-8. [DOI] [PubMed] [Google Scholar]
  6. Comstock G. W. Tuberculosis in twins: a re-analysis of the Prophit survey. Am Rev Respir Dis. 1978 Apr;117(4):621–624. doi: 10.1164/arrd.1978.117.4.621. [DOI] [PubMed] [Google Scholar]
  7. Cooper A. M., Dalton D. K., Stewart T. A., Griffin J. P., Russell D. G., Orme I. M. Disseminated tuberculosis in interferon gamma gene-disrupted mice. J Exp Med. 1993 Dec 1;178(6):2243–2247. doi: 10.1084/jem.178.6.2243. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Copeman J. B., Cucca F., Hearne C. M., Cornall R. J., Reed P. W., Rønningen K. S., Undlien D. E., Nisticò L., Buzzetti R., Tosi R. Linkage disequilibrium mapping of a type 1 diabetes susceptibility gene (IDDM7) to chromosome 2q31-q33. Nat Genet. 1995 Jan;9(1):80–85. doi: 10.1038/ng0195-80. [DOI] [PubMed] [Google Scholar]
  9. Cox R. A., Downs M., Neimes R. E., Ognibene A. J., Yamashita T. S., Ellner J. J. Immunogenetic analysis of human tuberculosis. J Infect Dis. 1988 Dec;158(6):1302–1308. doi: 10.1093/infdis/158.6.1302. [DOI] [PubMed] [Google Scholar]
  10. Daniels S. E., Bhattacharrya S., James A., Leaves N. I., Young A., Hill M. R., Faux J. A., Ryan G. F., le Söuef P. N., Lathrop G. M. A genome-wide search for quantitative trait loci underlying asthma. Nature. 1996 Sep 19;383(6597):247–250. doi: 10.1038/383247a0. [DOI] [PubMed] [Google Scholar]
  11. Davies J. L., Kawaguchi Y., Bennett S. T., Copeman J. B., Cordell H. J., Pritchard L. E., Reed P. W., Gough S. C., Jenkins S. C., Palmer S. M. A genome-wide search for human type 1 diabetes susceptibility genes. Nature. 1994 Sep 8;371(6493):130–136. doi: 10.1038/371130a0. [DOI] [PubMed] [Google Scholar]
  12. Dib C., Fauré S., Fizames C., Samson D., Drouot N., Vignal A., Millasseau P., Marc S., Hazan J., Seboun E. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 1996 Mar 14;380(6570):152–154. doi: 10.1038/380152a0. [DOI] [PubMed] [Google Scholar]
  13. Ebers G. C., Kukay K., Bulman D. E., Sadovnick A. D., Rice G., Anderson C., Armstrong H., Cousin K., Bell R. B., Hader W. A full genome search in multiple sclerosis. Nat Genet. 1996 Aug;13(4):472–476. doi: 10.1038/ng0896-472. [DOI] [PubMed] [Google Scholar]
  14. Ewens W. J., Spielman R. S. The transmission/disequilibrium test: history, subdivision, and admixture. Am J Hum Genet. 1995 Aug;57(2):455–464. [PMC free article] [PubMed] [Google Scholar]
  15. Feder J. N., Gnirke A., Thomas W., Tsuchihashi Z., Ruddy D. A., Basava A., Dormishian F., Domingo R., Jr, Ellis M. C., Fullan A. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996 Aug;13(4):399–408. doi: 10.1038/ng0896-399. [DOI] [PubMed] [Google Scholar]
  16. Flynn J. L., Goldstein M. M., Triebold K. J., Koller B., Bloom B. R. Major histocompatibility complex class I-restricted T cells are required for resistance to Mycobacterium tuberculosis infection. Proc Natl Acad Sci U S A. 1992 Dec 15;89(24):12013–12017. doi: 10.1073/pnas.89.24.12013. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Govoni G., Vidal S., Gauthier S., Skamene E., Malo D., Gros P. The Bcg/Ity/Lsh locus: genetic transfer of resistance to infections in C57BL/6J mice transgenic for the Nramp1 Gly169 allele. Infect Immun. 1996 Aug;64(8):2923–2929. doi: 10.1128/iai.64.8.2923-2929.1996. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Gyapay G., Morissette J., Vignal A., Dib C., Fizames C., Millasseau P., Marc S., Bernardi G., Lathrop M., Weissenbach J. The 1993-94 Généthon human genetic linkage map. Nat Genet. 1994 Jun;7(2 Spec No):246–339. doi: 10.1038/ng0694supp-246. [DOI] [PubMed] [Google Scholar]
  19. Hanis C. L., Boerwinkle E., Chakraborty R., Ellsworth D. L., Concannon P., Stirling B., Morrison V. A., Wapelhorst B., Spielman R. S., Gogolin-Ewens K. J. A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nat Genet. 1996 Jun;13(2):161–166. doi: 10.1038/ng0696-161. [DOI] [PubMed] [Google Scholar]
  20. Hill A. V. Genetics of infectious disease resistance. Curr Opin Genet Dev. 1996 Jun;6(3):348–353. doi: 10.1016/s0959-437x(96)80013-x. [DOI] [PubMed] [Google Scholar]
  21. Hugot J. P., Laurent-Puig P., Gower-Rousseau C., Olson J. M., Lee J. C., Beaugerie L., Naom I., Dupas J. L., Van Gossum A., Orholm M. Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature. 1996 Feb 29;379(6568):821–823. doi: 10.1038/379821a0. [DOI] [PubMed] [Google Scholar]
  22. Jouanguy E., Altare F., Lamhamedi S., Revy P., Emile J. F., Newport M., Levin M., Blanche S., Seboun E., Fischer A. Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection. N Engl J Med. 1996 Dec 26;335(26):1956–1961. doi: 10.1056/NEJM199612263352604. [DOI] [PubMed] [Google Scholar]
  23. Kamijo R., Le J., Shapiro D., Havell E. A., Huang S., Aguet M., Bosland M., Vilcek J. Mice that lack the interferon-gamma receptor have profoundly altered responses to infection with Bacillus Calmette-Guérin and subsequent challenge with lipopolysaccharide. J Exp Med. 1993 Oct 1;178(4):1435–1440. doi: 10.1084/jem.178.4.1435. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Khoury M. J. Case-parental control method in the search for disease-susceptibility genes. Am J Hum Genet. 1994 Aug;55(2):414–415. [PMC free article] [PubMed] [Google Scholar]
  25. Knapp M., Seuchter S. A., Baur M. P. The haplotype-relative-risk (HRR) method for analysis of association in nuclear families. Am J Hum Genet. 1993 Jun;52(6):1085–1093. [PMC free article] [PubMed] [Google Scholar]
  26. Korenberg J. R., Chen X. N., Adams M. D., Venter J. C. Toward a cDNA map of the human genome. Genomics. 1995 Sep 20;29(2):364–370. doi: 10.1006/geno.1995.9993. [DOI] [PubMed] [Google Scholar]
  27. LURIE M. B., ABRAMSON S., HEPPLESTON A. G. On the response of genetically resistant and susceptible rabbits to the quantitative inhalation of human type tubercle bacilli and the nature of resistance to tuberculosis. J Exp Med. 1952 Feb;95(2):119–134. doi: 10.1084/jem.95.2.119. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. MOTULSKY A. G. Metabolic polymorphisms and the role of infectious diseases in human evolution. Hum Biol. 1960 Feb;32:28–62. [PubMed] [Google Scholar]
  29. Murray C. J., Styblo K., Rouillon A. Tuberculosis in developing countries: burden, intervention and cost. Bull Int Union Tuberc Lung Dis. 1990 Mar;65(1):6–24. [PubMed] [Google Scholar]
  30. Newport M. J., Huxley C. M., Huston S., Hawrylowicz C. M., Oostra B. A., Williamson R., Levin M. A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med. 1996 Dec 26;335(26):1941–1949. doi: 10.1056/NEJM199612263352602. [DOI] [PubMed] [Google Scholar]
  31. O'Brien S. J. Ghetto legacy. Curr Biol. 1991 Aug;1(4):209–211. doi: 10.1016/0960-9822(91)90058-5. [DOI] [PubMed] [Google Scholar]
  32. PENROSE L. S. The general purpose sibpair linkage test. Ann Eugen. 1953 Sep;18(2):120–124. [PubMed] [Google Scholar]
  33. Reed P. W., Davies J. L., Copeman J. B., Bennett S. T., Palmer S. M., Pritchard L. E., Gough S. C., Kawaguchi Y., Cordell H. J., Balfour K. M. Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping. Nat Genet. 1994 Jul;7(3):390–395. doi: 10.1038/ng0794-390. [DOI] [PubMed] [Google Scholar]
  34. Risch N., Merikangas K. The future of genetic studies of complex human diseases. Science. 1996 Sep 13;273(5281):1516–1517. doi: 10.1126/science.273.5281.1516. [DOI] [PubMed] [Google Scholar]
  35. Satsangi J., Parkes M., Louis E., Hashimoto L., Kato N., Welsh K., Terwilliger J. D., Lathrop G. M., Bell J. I., Jewell D. P. Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. Nat Genet. 1996 Oct;14(2):199–202. doi: 10.1038/ng1096-199. [DOI] [PubMed] [Google Scholar]
  36. Sawcer S., Jones H. B., Feakes R., Gray J., Smaldon N., Chataway J., Robertson N., Clayton D., Goodfellow P. N., Compston A. A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nat Genet. 1996 Aug;13(4):464–468. doi: 10.1038/ng0896-464. [DOI] [PubMed] [Google Scholar]
  37. Schaid D. J., Sommer S. S. Comparison of statistics for candidate-gene association studies using cases and parents. Am J Hum Genet. 1994 Aug;55(2):402–409. [PMC free article] [PubMed] [Google Scholar]
  38. Schwengel D. A., Jedlicka A. E., Nanthakumar E. J., Weber J. L., Levitt R. C. Comparison of fluorescence-based semi-automated genotyping of multiple microsatellite loci with autoradiographic techniques. Genomics. 1994 Jul 1;22(1):46–54. doi: 10.1006/geno.1994.1344. [DOI] [PubMed] [Google Scholar]
  39. Singh S. P., Mehra N. K., Dingley H. B., Pande J. N., Vaidya M. C. Human leukocyte antigen (HLA)-linked control of susceptibility to pulmonary tuberculosis and association with HLA-DR types. J Infect Dis. 1983 Oct;148(4):676–681. doi: 10.1093/infdis/148.4.676. [DOI] [PubMed] [Google Scholar]
  40. Spielman R. S., McGinnis R. E., Ewens W. J. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet. 1993 Mar;52(3):506–516. [PMC free article] [PubMed] [Google Scholar]
  41. Stead W. W. Genetics and resistance to tuberculosis. Could resistance be enhanced by genetic engineering? Ann Intern Med. 1992 Jun 1;116(11):937–941. doi: 10.7326/0003-4819-116-11-937. [DOI] [PubMed] [Google Scholar]
  42. Stead W. W., Senner J. W., Reddick W. T., Lofgren J. P. Racial differences in susceptibility to infection by Mycobacterium tuberculosis. N Engl J Med. 1990 Feb 15;322(7):422–427. doi: 10.1056/NEJM199002153220702. [DOI] [PubMed] [Google Scholar]
  43. Sørensen T. I., Nielsen G. G., Andersen P. K., Teasdale T. W. Genetic and environmental influences on premature death in adult adoptees. N Engl J Med. 1988 Mar 24;318(12):727–732. doi: 10.1056/NEJM198803243181202. [DOI] [PubMed] [Google Scholar]
  44. Trembath R. C., Clough R. L., Rosbotham J. L., Jones A. B., Camp R. D., Frodsham A., Browne J., Barber R., Terwilliger J., Lathrop G. M. Identification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two stage genome-wide search in psoriasis. Hum Mol Genet. 1997 May;6(5):813–820. doi: 10.1093/hmg/6.5.813. [DOI] [PubMed] [Google Scholar]
  45. Vidal S. M., Malo D., Vogan K., Skamene E., Gros P. Natural resistance to infection with intracellular parasites: isolation of a candidate for Bcg. Cell. 1993 May 7;73(3):469–485. doi: 10.1016/0092-8674(93)90135-d. [DOI] [PubMed] [Google Scholar]
  46. Vidal S., Tremblay M. L., Govoni G., Gauthier S., Sebastiani G., Malo D., Skamene E., Olivier M., Jothy S., Gros P. The Ity/Lsh/Bcg locus: natural resistance to infection with intracellular parasites is abrogated by disruption of the Nramp1 gene. J Exp Med. 1995 Sep 1;182(3):655–666. doi: 10.1084/jem.182.3.655. [DOI] [PMC free article] [PubMed] [Google Scholar]
  47. Weber J. L., May P. E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet. 1989 Mar;44(3):388–396. [PMC free article] [PubMed] [Google Scholar]
  48. Zhong F., McCombs C. C., Olson J. M., Elston R. C., Stevens F. M., McCarthy C. F., Michalski J. P. An autosomal screen for genes that predispose to celiac disease in the western counties of Ireland. Nat Genet. 1996 Nov;14(3):329–333. doi: 10.1038/ng1196-329. [DOI] [PubMed] [Google Scholar]
  49. Ziegle J. S., Su Y., Corcoran K. P., Nie L., Mayrand P. E., Hoff L. B., McBride L. J., Kronick M. N., Diehl S. R. Application of automated DNA sizing technology for genotyping microsatellite loci. Genomics. 1992 Dec;14(4):1026–1031. doi: 10.1016/s0888-7543(05)80126-0. [DOI] [PubMed] [Google Scholar]

Articles from Thorax are provided here courtesy of BMJ Publishing Group

RESOURCES