Influence of interleukin-12 receptor β1 polymorphisms on tuberculosis

Human Genetics

Volumn 112, Issue 3, 2003, Pages 237-243

  Akahoshi, Mitsuteru ^a,b   Nakashima, Hitoshi ^a   Miyake, Katsuhisa ^a   Inoue, Yasushi ^a   Shimizu, Sakiko ^a   Tanaka, Yosuke ^a   Okada, Kaoru ^a   Otsuka, Takeshi ^a   Harada, Mine ^a  

^a KYUSHU UNIVERSITY   (Japan)

^b RIKEN YOKOHAMA INSTITUTE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA INTERFERON; INTERLEUKIN 12; INTERLEUKIN 12 RECEPTOR; INTERLEUKIN 12 RECEPTOR BETA1; INTERLEUKIN 12 RECEPTOR BETA2; UNCLASSIFIED DRUG; ALANINE; CYSTEINE; GLYCINE; IL12RB1 PROTEIN, HUMAN; INTERLEUKIN RECEPTOR; THREONINE;

ADULT; AGED; ALLELE; ARTICLE; CASE CONTROL STUDY; CONFIDENCE INTERVAL; CONTROLLED STUDY; FEMALE; GENE; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; IMMUNITY; INTERFERON PRODUCTION; JAPAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; POPULATION GENETICS; POPULATION RISK; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; TUBERCULOSIS; ASIAN; BIOSYNTHESIS; DNA SEQUENCE; GENETICS; IMMUNOLOGY; METABOLISM; MIDDLE AGED; NATURAL KILLER CELL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

ADULT; AGED; ALANINE; ASIAN CONTINENTAL ANCESTRY GROUP; BLOTTING, WESTERN; CASE-CONTROL STUDIES; CYSTEINE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLYCINE; HAPLOTYPES; HUMANS; INTERFERON TYPE II; JAPAN; KILLER CELLS, NATURAL; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RECEPTORS, INTERLEUKIN; RECEPTORS, INTERLEUKIN-12; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; THREONINE; TUBERCULOSIS;

EID: 0037361308     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0873-5     Document Type: Article

References (25)

1. Altare F, Durandy A, Lammas D, Emile JF, Lamhamedi S, Le Deist F, Drysdale P, Jouanguy E, Doffinger R, Bernaudin F, Jeppsson O, Gollob JA, Meinl E, Segal AW, Fischer A, Kumararatne D, Casanova JL (1998) Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 280:1432-1435
2. Altare F, Ensser A, Breiman A, Reichenbach J, Baghdadi JE, Fischer A, Emile JF, Gaillard JL, Meinl E, Casanova JL (2001) Interleukin-12 receptor β1 deficiency in a patient with abdominal tuberculosis. J Infect Dis 184:231-236
3. Aksu G, Tirpan C, Cavusoglu C, Soydan S, Altare F, Casanova JL, Kutukculer N (2001) Mycobacterium fortuitum-chelonae complex infection in a child with complete interleukin-12 receptor beta 1 deficiency. Pediatr Infect Dis J 20:551-533
4. Casanova JL, Abel L (2002) Genetic dissection of immunity to mycobacteria: The human model. Annu Rev Immunol 20:581-620
5. Chua AO, Chizzonite R, Desai BB, Truitt TP, Nunes P, Minetti LJ, Warrier RR, Presky DH, Levine JF, Gately MK, Gubler U (1994) Expression cloning of a human IL-12 receptor component: A new member of the cytokine receptor superfamily with strong homology to gap130. J Immunol 153:128-136
6. Comstock GW (1978) Tuberculosis in twins: A re-analysis of the Prophit survey. Am Rev Respir Dis 117:621-624
7. Dolin PJ, Raviglione MC, Kochi A (1994) Global tuberculosis incidence and mortality during 1990-2000. Bull WHO 72:213-220
8. Elloumi-Zghal H, Barbouche MR, Chemli J, Bejaoui M, Harbi A, Snoussi N, Abdelhak S, Dellagi K (2002) Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis Bacille Calmette-Guerin infection. J Infect Dis 185:1468-1475
9. Fine PEM (1981) Immunogenetics of susceptibility to leprosy, tuberculosis, and leishmaniasis: An epidemiological perspective. Int J Lepr Other Mycobact Dis 49:437-454
10. Gollob JA, Veenstra KG, Jyonouchi H, Kelly AM, Ferrieri P, Panka DJ, Altare F, Fieschi C, Casanova JL, Frank DA, Mier JW (2000) Impaired STAT activation by IL-12 in patient with atypical mycobacterial and staphylococcal infections. J Immunol 157:4120-4126
11. Greenwood CM, Fujiwara TM, Boothroyd LJ, Miller MA, Frappier D, Fanning EA, Schurr E, Morgan K (2000) Linkage of tuberculosis to chromosome 2q35 loci, including NRAMP1, in a large aboriginal Canadian family. Am J Hum Genet 67:405-416
12. Hill AVS (1998) The immunogenetics of human infectious diseases. Annu Rev Immunol 16:593-617
13. Jong R De, Altare F, Haagen IA, Elferink DG, Boer T, Breda Vriesman PJC Van, Kabel PJ, Draaisma JMT, Dissel JT Van, Kroon PF, Casanova JL, Ottenhoff THM (1998) Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science 280:1435-1438
14. Marquet S, Schurr E (2001) Genetics of susceptibility to infectious diseases: Tuberculosis and leprosy as examples. Drug Metab Dispos 29:479-83
15. Ottenhoff THM, Boer T De, Verhagen CE, Verreck FAW, Dissel JT Van (2000) Human deficiencies in type-1 cytokine receptors reveal the essential role of type-1 cytokines in immunity to intracellular bacteria. Microbes Infection 2:1559-1566
16. Ottenhoff THM, Verreck FAW, Lichtenauer-Kaligis EGR, Hoeve MA, Sanal O, Dissel JT Van (2002) Genetics, cytokines and human infectious disease: Lessons from weakly pathogenic mycobacteria and salmonellae. Nat Genet 32:97-105
17. Presky DH, Gubler U, Chizzonite RA, Gately MK (1995) IL12 receptors and receptor antagonists. Res Immunol 146:439-44.
18. Presky DH, Yang H, Minetti LJ, Chua AO, Nabavi N, Wu CY, Gately MK, Gubler U (1996) A functional interleukin 12 receptor complex is composed of two β-type cytokine receptor subunits. Proc Natl Acad Sci USA 93:14002-14007
19. Sakai T, Matsuoka M, Aoki M, Nosaka K, Mitsuya H (2001) Missense mutation of interleukin-12 receptor β1 chain-encoding gene is associated with impaired immunity against Mycobacterium avium complex infection. Blood 97:2688-2694
20. Stead WW, Senner JW, Reddick WT, Lofgren JP (1990) Racial differences in susceptibility to mycobacterium tuberculosis. N Engl J Med 322:422-427
21. Trinchieri G (1998) Proinflammatory and immunoregulatory functions of interleukin-12. Int Rev Immunol 16:365-396
22. Verhagen CE, Boer T De, Smits HH, Verreck FAW, Wierenga EA, Kurimoto M, Lammas DA, Kumararatne DS, Sanal O, Kroon FP, Dissel JT Van, Sinigaglia F, Ottenhoff THM (2000) Residual type 1 immunity in patients genetically deficient for interleukin 12 receptor β1 (IL-12Rβ1): Evidence for an IL-12Rβ1-independent pathway of IL-12 responsiveness in human T cells. J Exp Med 192:517-528
23. Wu CY, Warrier RR, Carvajal DM, Chua AO, Minetti LJ, Chizzonite R, Mongini PKA, Stern AS, Gubler U, Presky DH, Gately MK (1996) Biological function and distribution of human interleukin-12 receptor β chain. Eur J Immunol 26:345-350
24. Wu CY, Ferrante J, Gately MK, Magram J (1997) Characterization of IL-12 receptor β1 chain (IL-12Rβ1)-deficient mice. J Immunol 159:1658-1665
25. Zhang M, Gong J, Presky DH, Xue W, Barnes PF (1999) Expression of the IL-12 receptor β1 and β2 subunits in human tuberculosis. J Immunol 162:2441-2447