Comprehensive genetic assessment of a functional TLR9 promoter polymorphism: No replicable association with asthma or asthma-related phenotypes

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Lange, Nancy E ^a   Zhou, Xiaobo ^a   Lasky Su, Jessica ^a   Himes, Blanca E ^a   Lazarus, Ross ^a   Soto Quirós, Manuel ^b   Avila, Lydiana ^b   Celedón, Juan C ^c   Hawrylowicz, Catherine M ^d   Raby, Benjamin A ^a   Litonjua, Augusto A ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b HOSPITAL NACIONAL DE NIÑOS   (Costa Rica)

^c CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^d KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

LUCIFERASE; TOLL LIKE RECEPTOR 9; VITAMIN D; MESSENGER RNA; PRIMER DNA; TLR9 PROTEIN, HUMAN;

ARTICLE; ASTHMA; CASE CONTROL STUDY; CHI SQUARE TEST; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; ENZYME ASSAY; FAMILY STUDY; FEMALE; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; LUNG FUNCTION; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; POPULATION RESEARCH; PROMOTER REGION; SCHOOL CHILD; ADOLESCENT; ADULT; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGY; LUNG FUNCTION TEST; METABOLISM; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; ASTHMA; BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD; COHORT STUDIES; DNA PRIMERS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RESPIRATORY FUNCTION TESTS; RNA, MESSENGER; TOLL-LIKE RECEPTOR 9; VITAMIN D; YOUNG ADULT;

EID: 79851509246     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-26     Document Type: Article

References (58)

1. Masoli M, Fabian D, Holt S, Beasley R. The global burden of asthma: executive summary of the GINA Dissemination Committee report. Allergy 2004, 59(5):469-478. 10.1111/j.1398-9995.2004.00526.x, 15080825.
2. Schroder NW, Maurer M. The role of innate immunity in asthma: leads and lessons from mouse models. Allergy 2007, 62(6):579-590. 10.1111/j.1398-9995.2007.01386.x, 17508961.
3. Krieg AM. Therapeutic potential of Toll-like receptor 9 activation. Nat Rev Drug Discov 2006, 5(6):471-484. 10.1038/nrd2059, 16763660.
4. Pasare C, Medzhitov R. Control of B-cell responses by Toll-like receptors. Nature 2005, 438(7066):364-368. 10.1038/nature04267, 16292312.
5. Lazarus R, Klimecki WT, Raby BA, Vercelli D, Palmer LJ, Kwiatkowski DJ, Silverman EK, Martinez F, Weiss ST. Single-nucleotide polymorphisms in the Toll-like receptor 9 gene (TLR9): frequencies, pairwise linkage disequilibrium, and haplotypes in three U.S. ethnic groups and exploratory case-control disease association studies. Genomics 2003, 81(1):85-91. 10.1016/S0888-7543(02)00022-8, 12573264.
6. Lachheb J, Dhifallah IB, Chelbi H, Hamzaoui K, Hamzaoui A. Toll-like receptors and CD14 genes polymorphisms and susceptibility to asthma in Tunisian children. Tissue Antigens 2008, 71(5):417-425. 10.1111/j.1399-0039.2008.01011.x, 18312481.
7. Carvalho A, Pasqualotto AC, Pitzurra L, Romani L, Denning DW, Rodrigues F. Polymorphisms in toll-like receptor genes and susceptibility to pulmonary aspergillosis. J Infect Dis 2008, 197(4):618-621. 10.1086/526500, 18275280.
8. Novak N, Yu CF, Bussmann C, Maintz L, Peng WM, Hart J, Hagemann T, Diaz-Lacava A, Baurecht HJ, Klopp N, et al. Putative association of a TLR9 promoter polymorphism with atopic eczema. Allergy 2007, 62(7):766-772. 10.1111/j.1398-9995.2007.01358.x, 17573724.
9. Hong J, Leung E, Fraser AG, Merriman TR, Vishnu P, Krissansen GW. TLR2, TLR4 and TLR9 polymorphisms and Crohn's disease in a New Zealand Caucasian cohort. J Gastroenterol Hepatol 2007, 22(11):1760-1766. 10.1111/j.1440-1746.2006.04727.x, 17914947.
10. Torok HP, Glas J, Endres I, Tonenchi L, Teshome MY, Wetzke M, Klein W, Lohse P, Ochsenkuhn T, Folwaczny M, et al. Epistasis Between Toll-Like Receptor-9 Polymorphisms and Variants in NOD2 and IL23R Modulates Susceptibility to Crohn's Disease. Am J Gastroenterol 2009,
11. Torok HP, Glas J, Tonenchi L, Bruennler G, Folwaczny M, Folwaczny C. Crohn's disease is associated with a toll-like receptor-9 polymorphism. Gastroenterology 2004, 127(1):365-366. 10.1053/j.gastro.2004.05.051, 15236225.
12. Urry Z, Xystrakis E, Richards DF, McDonald J, Sattar Z, Cousins DJ, Corrigan CJ, Hickman E, Brown Z, Hawrylowicz CM. Ligation of TLR9 induced on human IL-10-secreting Tregs by 1alpha,25-dihydroxyvitamin D3 abrogates regulatory function. J Clin Invest 2009, 119(2):387-398. 2631286, 19139565.
13. Moore KW, de Waal Malefyt R, Coffman RL, O'Garra A. Interleukin-10 and the interleukin-10 receptor. Annu Rev Immunol 2001, 19:683-765. 10.1146/annurev.immunol.19.1.683, 11244051.
14. The Childhood Asthma Management Program (CAMP): design, rationale, and methods. Childhood Asthma Management Program Research Group. Control Clin Trials 1999, 20(1):91-120. 10.1016/S0197-2456(98)00044-0, 10027502.
15. Long-term effects of budesonide or nedocromil in children with asthma. The Childhood Asthma Management Program Research Group. N Engl J Med 2000, 343(15):1054-1063. 10.1056/NEJM200010123431501, 11027739.
16. Miller MR, Hankinson J, Brusasco V, Burgos F, Casaburi R, Coates A, Crapo R, Enright P, van der Grinten CP, Gustafsson P, et al. Standardisation of spirometry. Eur Respir J 2005, 26(2):319-338. 10.1183/09031936.05.00034805, 16055882.
17. Hollis BW, Kamerud JQ, Selvaag SR, Lorenz JD, Napoli JL. Determination of vitamin D status by radioimmunoassay with an 125I-labeled tracer. Clin Chem 1993, 39(3):529-533.
18. Hollis BW, Napoli JL. Improved radioimmunoassay for vitamin D and its use in assessing vitamin D status. Clin Chem 1985, 31(11):1815-1819.
19. Hunninghake GM, Soto-Quiros ME, Avila L, Ly NP, Liang C, Sylvia JS, Klanderman BJ, Silverman EK, Celedon JC. Sensitization to Ascaris lumbricoides and severity of childhood asthma in Costa Rica. J Allergy Clin Immunol 2007, 119(3):654-661. 10.1016/j.jaci.2006.12.609, 17336615.
20. Pearce N, Ait-Khaled N, Beasley R, Mallol J, Keil U, Mitchell E, Robertson C. Worldwide trends in the prevalence of asthma symptoms: phase III of the International Study of Asthma and Allergies in Childhood (ISAAC). Thorax 2007, 62(9):758-766. 10.1136/thx.2006.070169, 2117323, 17504817.
21. Blumenthal MN, Banks-Schlegel S, Bleecker ER, Marsh DG, Ober C. Collaborative studies on the genetics of asthma--National Heart, Lung and Blood Institute. Clin Exp Allergy 1995, 25(Suppl 2):29-32. 10.1111/j.1365-2222.1995.tb00416.x, 8590337.
22. Himes BE, Dai Y, Kohane IS, Weiss ST, Ramoni MF. Prediction of chronic obstructive pulmonary disease (COPD) in asthma patients using electronic medical records. J Am Med Inform Assoc 2009, 16(3):371-379. 10.1197/jamia.M2846, 2732240, 19261943.
23. Zeng QT, Goryachev S, Weiss S, Sordo M, Murphy SN, Lazarus R. Extracting principal diagnosis, co-morbidity and smoking status for asthma research: evaluation of a natural language processing system. BMC Med Inform Decis Mak 2006, 6:30. 10.1186/1472-6947-6-30, 1553439, 16872495.
24. Pritchard JK, Rosenberg NA. Use of unlinked genetic markers to detect population stratification in association studies. Am J Hum Genet 1999, 65(1):220-228. 10.1086/302449, 1378093, 10364535.
25. Price AL, Butler J, Patterson N, Capelli C, Pascali VL, Scarnicci F, Ruiz-Linares A, Groop L, Saetta AA, Korkolopoulou P, et al. Discerning the ancestry of European Americans in genetic association studies. PLoS Genet 2008, 4(1):e236. 10.1371/journal.pgen.0030236, 2211542, 18208327.
26. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006, 38(8):904-909. 10.1038/ng1847, 16862161.
27. Chu JH, Weiss ST, Carey VJ, Raby BA. A graphical model approach for inferring large-scale networks integrating gene expression and genetic polymorphism. BMC Syst Biol 2009, 3:55. 10.1186/1752-0509-3-55, 2694152, 19473523.
28. Lange C, DeMeo D, Silverman EK, Weiss ST, Laird NM. PBAT: tools for family-based association studies. Am J Hum Genet 2004, 74(2):367-369. 10.1086/381563, 1181934, 14740322.
29. Lake SL, Laird NM. Tests of gene-environment interaction for case-parent triads with general environmental exposures. Ann Hum Genet 2004, 68(Pt 1):55-64. 10.1046/j.1529-8817.2003.00073.x, 14748830.
30. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007, 81(3):559-575. 10.1086/519795, 1950838, 17701901.
31. Himes BE, Hunninghake GM, Baurley JW, Rafaels NM, Sleiman P, Strachan DP, Wilk JB, Willis-Owen SA, Klanderman B, Lasky-Su J, et al. Genome-wide association analysis identifies PDE4 D as an asthma-susceptibility gene. Am J Hum Genet 2009, 84(5):581-593. 10.1016/j.ajhg.2009.04.006, 2681010, 19426955.
32. Fisher RAS. Statistical Methods for Research Workers. 1970, New York: Hafner Press, 14.
33. Won S, Morris N, Lu Q, Elston RC. Choosing an optimal method to combine P-values. Stat Med 2009, 28(11):1537-1553. 10.1002/sim.3569, 2771157, 19266501.
34. Baron RM, Carvajal IM, Liu X, Okabe RO, Fredenburgh LE, Macias AA, Chen YH, Ejima K, Layne MD, Perrella MA. Reduction of nitric oxide synthase 2 expression by distamycin A improves survival from endotoxemia. J Immunol 2004, 173(6):4147-4153.
35. Dickie LJ, Church LD, Coulthard LR, Mathews RJ, Emery P, McDermott MF. Vitamin D3 down-regulates intracellular Toll-like receptor 9 expression and Toll-like receptor 9-induced IL-6 production in human monocytes. Rheumatology (Oxford) 2010,
36. Lammers KM, Ouburg S, Morre SA, Crusius JB, Gionchett P, Rizzello F, Morselli C, Caramelli E, Conte R, Poggioli G, et al. Combined carriership of TLR9-1237C and CD14-260T alleles enhances the risk of developing chronic relapsing pouchitis. World J Gastroenterol 2005, 11(46):7323-7329.
37. Mollaki V, Georgiadis T, Tassidou A, Ioannou M, Daniil Z, Koutsokera A, Papathanassiou AA, Zintzaras E, Vassilopoulos G. Polymorphisms and haplotypes in TLR9 and MYD88 are associated with the development of Hodgkin's lymphoma: a candidate-gene association study. J Hum Genet 2009,
38. Velez DR, Wejse C, Stryjewski ME, Abbate E, Hulme WF, Myers JL, Estevan R, Patillo SG, Olesen R, Tacconelli A, et al. Variants in toll-like receptors 2 and 9 influence susceptibility to pulmonary tuberculosis in Caucasians, African-Americans, and West Africans. Hum Genet 2009,
39. Pine SO, McElrath MJ, Bochud PY. Polymorphisms in toll-like receptor 4 and toll-like receptor 9 influence viral load in a seroincident cohort of HIV-1-infected individuals. AIDS 2009, 23(18):2387-2395. 10.1097/QAD.0b013e328330b489, 2919356, 19855253.
40. Ramaprakash H, Ito T, Standiford TJ, Kunkel SL, Hogaboam CM. Toll-like receptor 9 modulates immune responses to Aspergillus fumigatus conidia in immunodeficient and allergic mice. Infect Immun 2009, 77(1):108-119. 10.1128/IAI.00998-08, 2612288, 18936185.
41. Creticos PS, Schroeder JT, Hamilton RG, Balcer-Whaley SL, Khattignavong AP, Lindblad R, Li H, Coffman R, Seyfert V, Eiden JJ, et al. Immunotherapy with a ragweed-toll-like receptor 9 agonist vaccine for allergic rhinitis. N Engl J Med 2006, 355(14):1445-1455. 10.1056/NEJMoa052916, 17021320.
42. Kline JN, Krieg AM. Toll-like receptor 9 activation with CpG oligodeoxynucleotides for asthma therapy. Drug News Perspect 2008, 21(8):434-439.
43. Kanzler H, Barrat FJ, Hessel EM, Coffman RL. Therapeutic targeting of innate immunity with Toll-like receptor agonists and antagonists. Nat Med 2007, 13(5):552-559. 10.1038/nm1589, 17479101.
44. Kline JN, Krieg AM, Waldschmidt TJ, Ballas ZK, Jain V, Businga TR. CpG oligodeoxynucleotides do not require TH1 cytokines to prevent eosinophilic airway inflammation in a murine model of asthma. J Allergy Clin Immunol 1999, 104(6):1258-1264. 10.1016/S0091-6749(99)70022-9, 10589010.
45. Tversky JR, Bieneman AP, Chichester KL, Hamilton RG, Schroeder JT. Subcutaneous allergen immunotherapy restores human dendritic cell innate immune function. Clin Exp Allergy 40(1):94-102. 2837539, 20205698.
46. Constabel H, Stankov MV, Hartwig C, Tschernig T, Behrens GM. Impaired lung dendritic cell migration and T cell stimulation induced by immunostimulatory oligonucleotides contribute to reduced allergic airway inflammation. J Immunol 2009, 183(5):3443-3453. 10.4049/jimmunol.0804223, 19667097.
47. Kline JN. Eat dirt: CpG DNA and immunomodulation of asthma. Proc Am Thorac Soc 2007, 4(3):283-288. 10.1513/pats.200701-019AW, 2647631, 17607014.
48. Berghofer B, Frommer T, Konig IR, Ziegler A, Chakraborty T, Bein G, Hackstein H. Common human Toll-like receptor 9 polymorphisms and haplotypes: association with atopy and functional relevance. Clin Exp Allergy 2005, 35(9):1147-1154. 10.1111/j.1365-2222.2005.02325.x, 16164440.
49. Noguchi E, Nishimura F, Fukai H, Kim J, Ichikawa K, Shibasaki M, Arinami T. An association study of asthma and total serum immunoglobin E levels for Toll-like receptor polymorphisms in a Japanese population. Clin Exp Allergy 2004, 34(2):177-183. 10.1111/j.1365-2222.2004.01839.x, 14987294.
50. Daley D, Lemire M, Akhabir L, Chan-Yeung M, He JQ, McDonald T, Sandford A, Stefanowicz D, Tripp B, Zamar D, et al. Analyses of associations with asthma in four asthma population samples from Canada and Australia. Hum Genet 2009, 125(4):445-459. 10.1007/s00439-009-0643-8, 19247692.
51. Smit LA, Siroux V, Bouzigon E, Oryszczyn MP, Lathrop M, Demenais F, Kauffmann F. CD14 and toll-like receptor gene polymorphisms, country living, and asthma in adults. Am J Respir Crit Care Med 2009, 179(5):363-368. 10.1164/rccm.200810-1533OC, 19096003.
52. De Jager PL, Richardson A, Vyse TJ, Rioux JD. Genetic variation in toll-like receptor 9 and susceptibility to systemic lupus erythematosus. Arthritis Rheum 2006, 54(4):1279-1282. 10.1002/art.21755, 16575840.
53. Demirci FY, Manzi S, Ramsey-Goldman R, Kenney M, Shaw PS, Dunlop-Thomas CM, Kao AH, Rhew EY, Bontempo F, Kammerer C, et al. Association study of Toll-like receptor 5 (TLR5) and Toll-like receptor 9 (TLR9) polymorphisms in systemic lupus erythematosus. J Rheumatol 2007, 34(8):1708-1711.
54. Hur JW, Shin HD, Park BL, Kim LH, Kim SY, Bae SC. Association study of Toll-like receptor 9 gene polymorphism in Korean patients with systemic lupus erythematosus. Tissue Antigens 2005, 65(3):266-270. 10.1111/j.1399-0039.2005.00374.x, 15730519.
55. Ito A, Ota M, Katsuyama Y, Inoko H, Ohno S, Mizuki N. Lack of association of Toll-like receptor 9 gene polymorphism with Behcet's disease in Japanese patients. Tissue Antigens 2007, 70(5):423-426. 10.1111/j.1399-0039.2007.00924.x, 17854429.
56. Ben Dhifallah I, Lachheb J, Houman H, Hamzaoui K. Toll-like-receptor gene polymorphisms in a Tunisian population with Behcet's disease. Clin Exp Rheumatol 2009, 27(2 Suppl 53):S58-62.
57. Hamann L, Glaeser C, Hamprecht A, Gross M, Gomma A, Schumann RR. Toll-like receptor (TLR)-9 promotor polymorphisms and atherosclerosis. Clin Chim Acta 2006, 364(1-2):303-307. 10.1016/j.cca.2005.07.017, 16125159.
58. Ng MT, van 't Hof R, Crockett JC, Hope ME, Berry S, Thomson J, McLean MH, McColl KE, El-Omar EM, Hold GL. Increase in NF-{kappa}B binding affinity of the C allelic variant of the Toll-like receptor 9 -1237T/C polymorphism is associated with Helicobacter pylori induced gastric disease. Infect Immun 2009, 2825916, 20038537.