A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis

Nature Genetics

Volumn 39, Issue 4, 2007, Pages 523-528

  Khor, Chiea C ^a,l,m   Chapman, Stephen J ^a,b   Vannberg, Fredrik O ^a   Dunne, Aisling ^c   Murphy, Caroline ^c   Ling, Edmund Y ^a   Frodsham, Angela J ^a   Walley, Andrew J ^a,l   Kyrieleis, Otto ^c   Khan, Amir ^c   Aucan, Christophe ^a   Segal, Shelley ^d   Moore, Catrin E ^d   Knox, Kyle ^d   Campbell, Sarah J ^a   Lienhardt, Christian ^e   Scott, Anthony ^f   Aaby, Peter ^g   Sow, Oumou Y ^h   Grignani, Robert T ^a,l,m   Sillah, Jackson ⁱ   Sirugo, Giorgio ⁱ   Peshu, Nobert ^f   Williams, Thomas N ^f   Maitland, Kathryn ^f   Davies, Robert J O ^b   Kwiatkowski, Dominic P ^a,d,i   Day, Nicholas P ^j   Yala, Djamel ^k   Crook, Derrick W ^d   Marsh, Kevin ^f   Berkley, James A ^b   O'Neill, Luke A J ^c   Hill, Adrian V S ^a   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c TRINITY COLLEGE DUBLIN   (Ireland)

^d JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^e INSTITUT DE RECHERCHE POUR LE DÉVELOPPEMENT   (Senegal)

^f KENYA MEDICAL RESEARCH INSTITUTE   (Kenya)

^g BANDIM HEALTH PROJECT   (Guinea-Bissau)

^h University Ignace Deen   (Guinea)

ⁱ MEDICAL RESEARCH COUNCIL LABORATORIES   (Gambia)

^j CHO QUAN HOSPITAL   (Viet Nam)

^k Institut Pasteur d'Algerie   (Algeria)

^l HAMMERSMITH HOSPITAL   (United Kingdom)

^m AGENCY FOR SCIENCE   (Singapore)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; ADAPTOR PROTEIN MAL; UNCLASSIFIED DRUG;

AFRICA; AMINO ACID SUBSTITUTION; ARTICLE; BACTEREMIA; BACTERIAL VIRULENCE; CASE CONTROL STUDY; CONTROLLED STUDY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; INFECTION PREVENTION; INNATE IMMUNITY; LUNG TUBERCULOSIS; MALARIA; PRIORITY JOURNAL; PROTEIN VARIANT; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; STREPTOCOCCUS INFECTION; UNITED KINGDOM; VIET NAM;

AFRICA; BACTEREMIA; CASE-CONTROL STUDIES; GENETIC PREDISPOSITION TO DISEASE; GREAT BRITAIN; HUMANS; LINKAGE DISEQUILIBRIUM; MALARIA; MEMBRANE GLYCOPROTEINS; MEMBRANE TRANSPORT PROTEINS; MODELS, MOLECULAR; MYELIN PROTEINS; PNEUMOCOCCAL INFECTIONS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEOLIPIDS; RECEPTORS, INTERLEUKIN-1; TOLL-LIKE RECEPTOR 2; TOLL-LIKE RECEPTOR 4; TUBERCULOSIS; VIETNAM;

EID: 34047098731     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1976     Document Type: Article

References (28)

1. Akira, S. & Takeda, K. Toll-like receptor signalling. Nat. Rev. Immunol. 4, 499-511 (2004).
2. Takeda, K., Kaisho, T. & Akira, S. Toll-like receptors. Annu. Rev. Immunol. 21, 335-376 (2003).
3. Akira, S., Takeda, K. & Kaisho, T. Toll-like receptors: critical proteins linking innate and acquired immunity. Nat. Immunol. 2, 675-680 (2001).
4. Fitzgerald, K.A. et al. Mal (MyD88-adapter-like) is required for Toll-like receptor-4 signal transduction. Nature 413, 78-83 (2001).
5. Yamamoto, M. et al. Essential role for TIRAP in activation of the signalling cascade shared by TLR2 and TLR4. Nature 420, 324-329 (2002).
6. Horng, T., Barton, G.M., Flavell, R.A. & Medzhitov, R. The adaptor molecule TIRAP provides signalling specificity for Toll-like receptors. Nature 420, 329-333 (2002).
7. Poltorak, A. et al. Defective LPS signalling in C3H/HeJ and C57BL/10ScCr mice: mutations in Tlr4 gene. Science 282, 2085-2088 (1998).
8. Hoshino, K. et al. Cutting edge: Toll-like receptor 4 (TLR4)-deficient mice are hyporesponsive to lipopolysaccharide: evidence for TLR4 as the Lps gene product. J. Immunol. 162, 3749-3752 (1999).
9. Shimazu, R. et al. MD-2, a molecule that confers lipopolysaccharide responsiveness on Toll-like receptor 4. J. Exp. Med. 189, 1777-1782 (1999).
10. Krishnegowda, G. et al. Induction of proinflammatory responses in macrophages by the glycosylphosphatidylinositols of Plasmodium falciparum: cell signalling receptors, glycosylphosphatidylinositol (GPI) structural requirement, and regulation of GPI activity. J. Biol. Chem. 280, 8606-8616 (2005).
11. Dunne, A., Ejdeback, M., Ludidi, P.L., O'Neill, L.A. & Gay, N.J. Structural complementarity of Toll/interleukin-1 receptor domains in Toll-like receptors and the adaptors TIRAP and MyD88. J. Biol. Chem. 278, 41443-41451 (2003).
12. Thoma-Uszynski, S. et al. Induction of direct antimicrobial activity through mammalian toll-like receptors. Science 291, 1544-1547 (2001).
13. Malley, R. et al. Recognition of pneumolysin by Toll-like receptor 4 confers resistance to pneumococcal infection. Proc. Natl. Acad. Sci. USA 100, 1966-1971 (2003).
14. Aitman, T.J. et al. Malaria susceptibility and CD36 mutation. Nature 405, 1015-1016 (2000).
15. Hoebe, K. et al. CD36 is a sensor of diacylglycerides. Nature 433, 523-527 (2005).
16. Miller, L.H., Baruch, D.I., Marsh, K. & Doumbo, O.K. The pathogenic basis of malaria. Nature 415, 673-679 (2002).
17. Annane, D., Bellissant, E. & Cavaillon, J.M. Septic shock. Lancet 365, 63-78 (2005).
18. Cundell, D.R., Gerard, N.P., Gerard, C., Idanpaan-Heikkila, I. & Tuomanen, E.I. Streptococcus pneumoniae anchor to activated human cells by the receptor for platelet-activating factor. Nature 377, 435-438 (1995).
19. Dean, M., Carrington, M. & O'Brien, S.J. Balanced polymorphism selected by genetic versus infectious human disease. Annu. Rev. Genomics Hum. Genet. 3, 263-292 (2002).
20. Mead, S. et al. Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics. Science 300, 640-643 (2003).
21. Carrington, M. et al. HLA and HIV-1: heterozygote advantage and B*35-Cw*04 disadvantage. Science 283, 1748-1752 (1999).
22. Picard, C. et al. Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science 299, 2076-2079 (2003).
23. Doffinger, R. et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat. Genet. 27, 277-285 (2001).
24. Clatworthy, M.R. & Smith, K.G. FcgammaRIIb balances efficient pathogen clearance and the cytokine-mediated consequences of sepsis. J. Exp. Med. 199, 717-723 (2004).
25. Jurinke, C., van den Boom, D., Cantor, C.R. & Koster, H. The use of MassARRAY technology for high throughput genotyping. Adv. Biochem. Eng. Biotechnol. 77, 57-74 (2002).
26. Altshuler, D. et al. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat. Genet. 26, 76-80 (2000).
27. Barrett, J.C., Fry, B., Maller, J. & Daly, M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263-265 (2005).
28. Clayton, D. A generalization of the transmission/disequilibrium test for uncertain-haplotype transmission. Am. J. Hum. Genet. 65, 1170 (1999).