Functional consequences of toll-like receptor 4 polymorphisms

被引:209
作者
Ferwerda, Bart [1 ,2 ]
McCall, Matthew B. B. [1 ,3 ]
Verheijen, Karlijn [1 ,2 ]
Kullberg, Bart-Jan [1 ,2 ]
van der Ven, Andre J. A. M. [1 ,2 ]
Van der Meer, Jos W. M. [1 ,2 ]
Netea, Mihai G. [1 ,2 ]
机构
[1] Radboud Univ Nijmegen, Med Ctr, Dept Med 463, Dept Internal Med, NL-6500 HB Nijmegen, Netherlands
[2] Univ Nijmegen, Ctr Infect Dis, Nijmegen, Netherlands
[3] Univ Nijmegen, Dept Parasitol, Nijmegen, Netherlands
关键词
D O I
10.2119/2007-00135.Ferwerda
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Toll-like receptor 4 (TLR4) is an important pathogen recognition receptor that recognizes mainly lipopolysaccharide (LPS) of Gram-negative bacteria, but also structures from fungal and mycobacterial pathogens, as well as endogenous ligands. Two nonsynonymous polymorphisms of TLR4, Asp299Gly and Thr399IIe, have been suggested to alter the function of the receptor. Some, but not all, studies have proposed that these polymorphisms lead to reduced cytokine response and increased susceptibility to Gram-negative infections. In this review, we compare studies that assessed the effect of the Asp299Gly and Thr399IIe polymorphisms on susceptibility to Gram-negative infections and examine the phenotypic consequences of these polymorphisms. In addition, we review the geographical distribution of TLR4 polymorphisms and present a model for evolutionary pressures on the TLR4 genetic make-up.
引用
收藏
页码:346 / 352
页数:7
相关论文
共 77 条
[1]   Recognition of pathogen-associated molecular patterns by TLR family [J].
Akira, S ;
Hemmi, H .
IMMUNOLOGY LETTERS, 2003, 85 (02) :85-95
[2]   Toll-like receptor signalling [J].
Akira, S ;
Takeda, K .
NATURE REVIEWS IMMUNOLOGY, 2004, 4 (07) :499-511
[3]   TLR4 mutations are associated with endotoxin hyporesponsiveness in humans [J].
Arbour, NC ;
Lorenz, E ;
Schutte, BC ;
Zabner, J ;
Kline, JN ;
Jones, M ;
Frees, K ;
Watt, JL ;
Schwartz, DA .
NATURE GENETICS, 2000, 25 (02) :187-+
[4]   Association of TLR4 polymorphisms with symptomatic respiratory syncytial virus infection in high-risk infants and young children [J].
Awomoyi, Agnes A. ;
Rallabhandi, Prasad ;
Pollin, Toni I. ;
Lorenz, Eva ;
Sztein, Marcelo B. ;
Boukhvalova, Marina S. ;
Hemming, Val G. ;
Blanco, Jorge C. G. ;
Vogel, Stefanie N. .
JOURNAL OF IMMUNOLOGY, 2007, 179 (05) :3171-3177
[5]   A TLR4 polymorphism is associated with asthma and reduced lipopolysaccharide-induced interleukin-12(p70) responses in Swedish children [J].
Böttcher, MF ;
Hmani-Aifa, M ;
Lindström, A ;
Jenmalm, MC ;
Mai, XM ;
Nilsson, L ;
Zdolsek, HA ;
Björkstén, B ;
Söderkvist, P ;
Vaarala, O .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2004, 114 (03) :561-567
[6]   Functional gene polymorphisms in aggressive and chronic periodontitis [J].
Brett, PM ;
Zygogianni, P ;
Griffiths, GS ;
Tomaz, M ;
Parkar, M ;
D'Aiuto, F ;
Tonetti, M .
JOURNAL OF DENTAL RESEARCH, 2005, 84 (12) :1149-1153
[7]   Response to systemic endotoxemia among humans bearing polymorphisms of the Toll-like receptor 4 (hTLR4) [J].
Calvano, Jacqueline E. ;
Bowers, Daniel J. ;
Coyle, Susette M. ;
Macor, Marie ;
Reddell, Michael T. ;
Kumar, Ashwini ;
Calvano, Steve E. ;
Lowry, Stephen F. .
CLINICAL IMMUNOLOGY, 2006, 121 (02) :186-190
[8]   The influence of innate immunity gene receptors polymorphisms in renal transplant infections [J].
Cervera, Carlos ;
Lozano, Francisco ;
Saval, Nuria ;
Gimferrer, Idoia ;
Ibanez, Ana ;
Suarez, Belen ;
Linares, Laura ;
Cofan, Federico ;
Jose Ricart, Maria ;
Esforzado, Nuria ;
Angeles Marcos, Maria ;
Pumarola, Tomas ;
Oppenheimer, Federico ;
Campistol, Josep M. ;
Moreno, Asuncion .
TRANSPLANTATION, 2007, 83 (11) :1493-1500
[9]   Changes in Toll-like receptor (TLR)-2 and TLR4 expression and function but not polymorphisms are associated with acute anterior uveitis [J].
Chang, John H. ;
Hampartzoumian, Taline ;
Everett, Beth ;
Lloyd, Andrew ;
McCluskey, Peter J. ;
Wakefield, Denis .
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2007, 48 (04) :1711-1717
[10]   Replicating genotype-phenotype associations [J].
Chanock, Stephen J. ;
Manolio, Teri ;
Boehnke, Michael ;
Boerwinkle, Eric ;
Hunter, David J. ;
Thomas, Gilles ;
Hirschhorn, Joel N. ;
Abecasis, Goncalo ;
Altshuler, David ;
Bailey-Wilson, Joan E. ;
Brooks, Lisa D. ;
Cardon, Lon R. ;
Daly, Mark ;
Donnelly, Peter ;
Fraumeni, Joseph F., Jr. ;
Freimer, Nelson B. ;
Gerhard, Daniela S. ;
Gunter, Chris ;
Guttmacher, Alan E. ;
Guyer, Mark S. ;
Harris, Emily L. ;
Hoh, Josephine ;
Hoover, Robert ;
Kong, C. Augustine ;
Merikangas, Kathleen R. ;
Morton, Cynthia C. ;
Palmer, Lyle J. ;
Phimister, Elizabeth G. ;
Rice, John P. ;
Roberts, Jerry ;
Rotimi, Charles ;
Tucker, Margaret A. ;
Vogan, Kyle J. ;
Wacholder, Sholom ;
Wijsman, Ellen M. ;
Winn, Deborah M. ;
Collins, Francis S. .
NATURE, 2007, 447 (7145) :655-660