Identification of a major locus, TNF1, that controls BCG-triggered tumor necrosis factor production by leukocytes in an area hyperendemic for tuberculosis

Clinical Infectious Diseases

Volumn 57, Issue 7, 2013, Pages 963-970

  Cobat, Aurelie ^a   Hoal, Eileen G ^b   Gallant, Caroline J ^a   Simkin, Leah ^a   Black, Gillian F ^b   Stanley, Kim ^b   Jaïs, Jean Philippe ^c   Yu, Ting Heng ^a   Boland Auge, Anne ^d   Grange, Ghislain ^e   Delacourt, Christophe ^e   Van Helden, Paul ^b   Casanova, Jean Laurent ^e,f   Abel, Laurent ^e,f   Alcaïs, Alexandre ^e,f,g   Schurr, Erwin ^a  

^a MCGILL UNIVERSITY   (Canada)

^b STELLENBOSCH UNIVERSITY   (South Africa)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d DIF   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f ROCKEFELLER UNIVERSITY   (United States)

^g Rockefeller University ^*  (France)

Author keywords

Multivariate linkage analysis; Pleiotropic locus; TNF; Tuberculosis

Indexed keywords

BCG VACCINE; GAMMA INTERFERON; TUMOR NECROSIS FACTOR;

ADULT; ARTICLE; BIVARIATE ANALYSIS; CHILD; CHROMOSOME 11P; CORRELATION ANALYSIS; CYTOKINE PRODUCTION; ENDEMIC DISEASE; GENE; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HUMAN; HUMAN CELL; LEUKOCYTE; MAJOR CLINICAL STUDY; MAXIMUM LIKELIHOOD METHOD; MULTIVARIATE ANALYSIS; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; SOUTH AFRICA; TNF1 GENE; TUBERCULOSIS; UNIVARIATE ANALYSIS;

MULTIVARIATE LINKAGE ANALYSIS; PLEIOTROPIC LOCUS; TNF; TUBERCULOSIS;

ADULT; ANALYSIS OF VARIANCE; BCG VACCINE; CHI-SQUARE DISTRIBUTION; CHILD; CHROMOSOMES, HUMAN, PAIR 11; ENDEMIC DISEASES; FAMILY; GENETIC PLEIOTROPY; HUMANS; INTERFERON-GAMMA; INTERFERON-GAMMA RELEASE TESTS; LEUKOCYTES; LINKAGE DISEQUILIBRIUM; MYCOBACTERIUM BOVIS; PHENOTYPE; QUANTITATIVE TRAIT LOCI; SOUTH AFRICA; TUBERCULOSIS; TUMOR NECROSIS FACTOR-ALPHA;

EID: 84884378812     PISSN: 10584838     EISSN: 15376591     Source Type: Journal    
DOI: 10.1093/cid/cit438     Document Type: Article

References (39)

1. Alcais A, Quintana-Murci L, Thaler DS, Schurr E, Abel L, Casanova JL. Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity? Ann N Y Acad Sci 2010; 1214:18-33.
2. Cobat A, Orlova M, Barrera LF, Schurr E. Host genomics and control of tuberculosis infection. Public Health Genomics 2013; 16:44-9.
3. Kindler V, Sappino AP, Grau GE, Piguet PF, Vassalli P. The inducing role of tumor necrosis factor in the development of bactericidal granulomas during BCG infection. Cell 1989; 56:731-40.
4. Flynn JL, Goldstein MM, Chan J, et al. Tumor necrosis factor-alpha is required in the protective immune response against Mycobacterium tuberculosis in mice. Immunity 1995; 2:561-72.
5. Jacobs M, Brown N, Allie N, Ryffel B. Fatal Mycobacterium bovis BCG infection in TNF-LT-alpha-deficient mice. Clin Immunol 2000; 94: 192-9.
6. Lin PL, Flynn JL. Understanding latent tuberculosis: a moving target. J Immunol 2010; 185:15-22.
7. Clay H, Volkman HE, Ramakrishnan L. Tumor necrosis factor signaling mediates resistance to mycobacteria by inhibiting bacterial growth and macrophage death. Immunity 2008; 29:283-94.
8. Lin PL, Myers A, Smith L, et al. Tumor necrosis factor neutralization results in disseminated disease in acute and latent Mycobacterium tuberculosis infection with normal granuloma structure in a cynomolgus macaque model. Arthritis Rheum 2010; 62:340-50.
9. Keane J, Gershon S,Wise RP, et al. Tuberculosis associated with infliximab, a tumor necrosis factor alpha-neutralizing agent. N Engl J Med 2001; 345:1098-104.
10. Cobat A, Gallant CJ, Simkin L, et al. High heritability of antimycobacterial immunity in an area of hyperendemicity for tuberculosis disease. J Infect Dis 2010; 201:15-9.
11. Stein CM, Guwatudde D, Nakakeeto M, et al. Heritability analysis of cytokines as intermediate phenotypes of tuberculosis. J Infect Dis 2003; 187:1679-85.
12. de Craen AJ, Posthuma D, Remarque EJ, van den Biggelaar AH, Westendorp RG, Boomsma DI. Heritability estimates of innate immunity: an extended twin study. Genes Immun 2005; 6:167-70.
13. Stein CM, Nshuti L, Chiunda AB, et al. Evidence for a major gene influence on tumor necrosis factor-alpha expression in tuberculosis: path and segregation analysis. Hum Hered 2005; 60:109-18.
14. Gillett A, Marta M, Jin T, et al. TNF production in macrophages is genetically determined and regulates inflammatory disease in rats. J Immunol 2010; 185:442-50.
15. Xu H, Wallstrom E, Becanovic K, Dahlman I, Lorentzen JC. Identification of rat quantitative trait loci that regulate LPS-induced proinflammatory cytokine responses. Scand J Immunol 2002; 56:248-53.
16. Bos SD, Lakenberg N, van der Breggen R, et al. A genome-wide linkage scan reveals CD53 as an important regulator of innate TNF-alpha levels. Eur J Hum Genet 2010; 18:953-9.
17. Stein CM, Zalwango S, Malone LL, et al. Genome scan of M. tuberculosis infection and disease in Ugandans. PLoS One 2008; 3:e4094.
18. Marlow AJ, Fisher SE, Francks C, et al. Use of multivariate linkage analysis for dissection of a complex cognitive trait. Am J Hum Genet 2003; 72:561-70.
19. Zhang L, Pei YF, Li J, Papasian CJ, Deng HW. Univariate/multivariate genome-wide association scans using data from families and unrelated samples. PLoS One 2009; 4:e6502.
20. Ferreira MA, Visscher PM, Martin NG, Duffy DL. A simple method to localise pleiotropic susceptibility loci using univariate linkage analyses of correlated traits. Eur J Hum Genet 2006; 14:953-62.
21. Wang T, Elston RC. Regression-based multivariate linkage analysis with an application to blood pressure and body mass index. Ann Hum Genet 2007; 71(Pt 1):96-106.
22. Korte A, Vilhjalmsson BJ, Segura V, Platt A, Long Q, Nordborg M. A mixed-model approach for genome-wide association studies of correlated traits in structured populations. Nat Genet 2012; 44:1066-71.
23. Gallant CJ, Cobat A, Simkin L, et al. Impact of age and sex on mycobacterial immunity in an area of high tuberculosis incidence. Int J Tuberc Lung Dis 2010; 14:952-9.
24. Gallant CJ, Cobat A, Simkin L, et al. Tuberculin skin test and in vitro assays provide complementary measures of antimycobacterial immunity in children and adolescents. Chest 2010; 137:1071-7.
25. 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; 206:2583-91.
26. Alcais A, Abel L. Maximum-likelihood-binomial method for genetic model-free linkage analysis of quantitative traits in sibships. Genet Epidemiol 1999; 17:102-17.
27. Cobat A, Abel L, Alcais A. The maximum-likelihood-binomial method revisited: a robust approach for model-free linkage analysis of quantitative traits in large sibships. Genet Epidemiol 2011; 35:46-56.
28. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996; 58:1347-63.
29. Mangin B, Thoquet P, Grimsley N. Pleiotropic QTL analysis. Biometrics 1998; 54:88-99.
30. Bouzigon E, Ulgen A, Dizier MH, et al. Evidence for a pleiotropic QTL on chromosome 5q13 influencing both time to asthma onset and asthma score in French EGEA families. Hum Genet 2007; 121: 711-9.
31. Elston RC, Buxbaum S, Jacobs KB, Olson JM. Haseman and Elston revisited. Genet Epidemiol 2000; 19:1-17.
32. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995; 11: 241-7.
33. Alcais A, Alter A, Antoni G, et al. Stepwise replication identifies a lowproducing lymphotoxin-alpha allele as a major risk factor for earlyonset leprosy. Nat Genet 2007; 39:517-22.
34. Mira MT, Alcais A, Nguyen VT, et al. Susceptibility to leprosy is associated with PARK2 and PACRG. Nature 2004; 427:636-40.
35. Grant AV, El Baghdadi J, Sabri A, et al. Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region. Am J Hum Genet 2013; 92:407-14.
36. El Baghdadi J, Orlova M, Alter A, et al. An autosomal dominant major gene confers predisposition to pulmonary tuberculosis in adults. J Exp Med 2006; 203:1679-84.
37. Alcais A, Fieschi C, Abel L, Casanova JL. Tuberculosis in children and adults: two distinct genetic diseases. J Exp Med 2005; 202: 1617-21.
38. Roberts SB, MacLean CJ, Neale MC, Eaves LJ, Kendler KS. Replication of linkage studies of complex traits: an examination of variation in location estimates. Am J Hum Genet 1999; 65:876-84.
39. Miller EA, Ernst JD. Illuminating the black box of TNF action in tuberculous granulomas. Immunity 2008; 29:175-7.