Study of Toll-like receptor gene loci in sarcoidosis

Clinical and Experimental Immunology

Volumn 152, Issue 3, 2008, Pages 423-431

  Schurmann M ^a   Kwiatkowski, R ^b   Albrecht, M ^a,b   Fischer, A ^b   Hampe, J ^c   Muller Quernheim J ^d   Schwinger, E ^a   Schreiber, S ^b  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY OF KIEL   (Germany)

^c UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^d UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Genetic linkage analysis; Sarcoidosis; TLR4; Toll like receptors

Indexed keywords

ASPARTIC ACID; GLYCINE; ISOLEUCINE; THREONINE; TOLL LIKE RECEPTOR 4;

ADULT; AGED; ARTICLE; CASE CONTROL STUDY; CHROMOSOME 9Q; CONTROLLED STUDY; GENE LOCUS; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; HUMAN TISSUE; INNATE IMMUNITY; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; NONPARAMETRIC TEST; PRIORITY JOURNAL; RECEPTOR GENE; SARCOIDOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TOLL LIKE RECEPTOR 4 GENE;

ADULT; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LINKAGE (GENETICS); LINKAGE DISEQUILIBRIUM; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SARCOIDOSIS; TOLL-LIKE RECEPTOR 4; TOLL-LIKE RECEPTORS;

EID: 43349084790     PISSN: 00099104     EISSN: 13652249     Source Type: Journal    
DOI: 10.1111/j.1365-2249.2008.03621.x     Document Type: Article

References (30)

1. Hunninghake GW, Costabel U, Ando M et al. Statement on sarcoidosis. Joint Statement of the American Thoracic Society (ATS), the European Respiratory Society (ERS) and the World Association of Sarcoidosis and Other Granulomatous Disorders (WASOG) adopted by the ATS Board of Directors and by the ERS Executive Committee, February 1999. Am J Respir Crit Care Med 1999 160 : 736 55.
2. Müller-Quernheim J. Sarcoidosis: immunopathogenetic concepts and their clinical application. Eur Respir J 1998 12 : 716 38.
3. Popper HH, Winter E, Hofler G. DNA of Mycobacterium tuberculosis in formalin-fixed, paraffin-embedded tissue in tuberculosis and sarcoidosis detected by polymerase chain reaction. Am J Clin Pathol 1994 101 : 738 41.
4. Eishi Y, Suga M, Ishige I et al. Quantitative analysis of mycobacterial and propionibacterial DNA in lymph nodes of Japanese and European patients with sarcoidosis. J Clin Microbiol 2002 40 : 198 204.
5. Rybicki BA, Amend KL, Maliarik MJ, Iannuzzi MC. Photocopier exposure and risk of sarcoidosis in African-American sibs. Sarcoidosis Vasc Diffuse Lung Dis 2004 21 : 49 55.
6. Rafnsson V, Ingimarsson O, Hjalmarsson I, Gunnarsdottir H. Association between exposure to crystalline silica and risk of sarcoidosis. Occup Environ Med 1998 55 : 657 60.
7. McGrath DS, Goh N, Foley PJ, du Bois RM. Sarcoidosis: genes and microbes - soil or seed? Sarcoidosis Vasc Diffuse Lung Dis 2001 18 : 149 64.
8. Takeda K, Kaisho T, Akira S. Toll-like receptors. Annu Rev Immunol 2003 21 : 335 76.
9. Drent M, van den Berg R, Haenen GR, van den Berg H, Wouters EF, Bast A. NF-kappaB activation in sarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis 2001 18 : 50 6.
10. Schürmann M, Reichel P, Müller-Myhsok B, Schlaak M, Müller-Quernheim J, Schwinger E. Results from a genome-wide search for predisposing genes in sarcoidosis. Am J Respir Crit Care Med 2001 164 : 840 6.
11. Pabst S, Baumgarten G, Stremmel A et al. Toll-like receptor (TLR) 4 polymorphisms are associated with a chronic course of sarcoidosis. Clin Exp Immunol 2006 143 : 420 6.
12. Veltkamp M, Grutters JC, van Moorsel CH, Ruven HJ, van den Bosch JM. Toll-like receptor (TLR) 4 polymorphism Asp299Gly is not associated with disease course in Dutch sarcoidosis patients. Clin Exp Immunol 2006 145 : 215 8.
13. Gazouli M, Koundourakis A, Ikonomopoulos J et al. CARD15/NOD2, CD14, and toll-like receptor 4 gene polymorphisms in Greek patients with sarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis 2006 23 : 23 9.
14. Veltkamp M, Wijnen PA, van Moorsel CH et al. Linkage between Toll-like receptor (TLR) 2 promotor and intron polymorphisms: functional effects and relevance to sarcoidosis. Clin Exp Immunol 2007 149 : 453 62.
15. 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.
16. Oetting WS, Lee HK, Flanders DJ, Wiesner GL, Sellers TA, King RA. Linkage analysis with multiplexed short tandem repeat polymorphisms using infrared fluorescence and M13 tailed primers. Genomics 1995 30 : 450 8.
17. O'Connell JR, Weeks DE. PedChek: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998 63 : 259 66.
18. Valentonyte R, Hampe J, Croucher PJ et al. Study of C-C chemokine receptor 2 alleles in sarcoidosis, with emphasis on family-based analysis. Am J Respir Crit Care Med 2005 171 : 1136 41.
19. Lorenz E, Frees KL, Schwartz DA. Determination of the TLR4 genotype using allele-specific PCR. Biotechniques 2001 31 : 22 4.
20. Arbour NC, Lorenz E, Schutte BC et al. TLR4 mutations are associated with endotoxin hyporesponsiveness in humans. Nat Genet 2000 25 : 187 91.
21. Dupont WD, Plummer WD. PS power and sample size program available for free on the Internet. Controlled Clin Trials 1997 18 : 274.
22. Wiman LG. Familial occurrence of sarcoidosis. Scand J Respir Dis Suppl 1972 80 : 115 9.
23. Iannuzzi MC, Iyengar SK, Gray-McGuire C et al. Genome-wide search for sarcoidosis susceptibility genes in African Americans. Genes Immun 2005 6 : 509 18.
24. Ferwerda B, McCall MB, Alonso S et al. TLR4 polymorphisms, infectious diseases, and evolutionary pressure during migration of modern humans. Proc Natl Acad Sci USA 2007 104 : 16645 50.
25. Labrum R, Bevan S, Sitzer M, Lorenz M, Markus HS. Toll receptor polymorphisms and carotid artery intima-media thickness. Stroke 2007 38 : 1179 84.
26. Oostenbrug LE, Drenth JP, de Jong DJ et al. Association between Toll-like receptor 4 and inflammatory bowel disease. Inflamm Bowel Dis 2005 11 : 567 75.
27. Jörgensen G, Wurm K. ABO blood groups in sarcoidosis. Nature 1964 203 : 1095.
28. Fan C, Nylander PO, Sikstrom C, Thunell M. Orosomucoid and haptoglobin types in patients with sarcoidosis. Exp Clin Immunogenet 1995 12 : 31 5.
29. Yamazaki K, McGovern D, Ragoussis J et al. Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease. Hum Mol Genet 2005 14 : 3499 506.
30. Henkler F, Baumann B, Fotin-Mleczek M et al. Caspase-mediated cleavage converts the tumor necrosis factor (TNF) receptor-associated factor (TRAF)-1 from a selective modulator of TNF receptor signaling to a general inhibitor of NF-kappaB activation. J Biol Chem 2003 278 : 29216 30.