IL10 Gene Polymorphisms Are Associated with Asthma Phenotypes in Children

Genetic Epidemiology

Volumn 26, Issue 2, 2004, Pages 155-165

  Lyon, Helen ^a,c   Lange, Christoph ^b   Lake, Stephen ^b   Silverman, Edwin K ^a   Randolph, Adrienne G ^a,c   Kwiatkowski, David ^d   Raby, Benjamin A ^a   Lazarus, Ross ^a   Weiland, Katy M ^a   Laird, Nan ^b   Weiss, Scott T ^a,d,e  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d Harvard Partners Center for Genetics and Genomics   (United States)

^e CHANNING LABORATORY   (United States)

Author keywords

3 ; Family based association test (FBAT); Genetic association; Haplotype; Interleukin 10 (IL10); Promoter; Single nucleotide polymorphism (SNP); Untranslated region (3 UTR)

Indexed keywords

IMMUNOGLOBULIN E; INTERLEUKIN 10;

ALLERGY; ARTICLE; ASTHMA; CHILD; DISEASE SEVERITY; DNA POLYMORPHISM; GENE LOCUS; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; INTRON; MACROPHAGE; MAJOR CLINICAL STUDY; MONONUCLEAR CELL; PHENOTYPE; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

3' UNTRANSLATED REGIONS; ASTHMA; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; COHORT STUDIES; FEMALE; FORCED EXPIRATORY VOLUME; GENETIC SCREENING; GENOTYPE; HAPLOTYPES; HUMANS; INTERLEUKIN-10; INTRONS; LINKAGE DISEQUILIBRIUM; MALE; MODELS, GENETIC; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); RESPIRATORY HYPERSENSITIVITY;

FROG ERYTHROCYTIC VIRUS;

EID: 0942276431     PISSN: 07410395     EISSN: None     Source Type: Journal    
DOI: 10.1002/gepi.10298     Document Type: Article

References (50)

1. Asadullah K, Eskdale J, Wiese A, Gallagher G, Friedrich M, Sterry W. 2001. Interleukin-10 promoter polymorphism in psoriasis. J Invest Dermatol 116:975-978.
2. ATS. 1995. Standardization of spirometry: 1994 Update. American Thoracic Society. Am J Respir Crit Care Med 152:1107-1136.
3. CAMP Group. 1994. Childhood Asthma Management Program Spirometry Manual, Version 3.0. Springfield, VA: National Technical Information Service.
4. CAMP Group. 1999. The Childhood Asthma Management Program (CAMP): design, rationale, and methods. Childhood Asthma Management Program Research Group. Control Clin Trials 20:91-120.
5. CAMP Group. 2000. Long-term effects of budesonide or nedocromil in children with asthma. The Childhood Asthma Management Program Research Group. N Engl J Med 343:1054-1063.
6. Coultas DB, Howard CA, Skipper BJ, Samet JM. 1988. Spirometric prediction equations for Hispanic children and adults in New Mexico. Am Rev Respir Dis 138:1386-1392.
7. Eskdale J, Gallagher G. 1995. A polymorphic dinucleotide repeat in the human IL-10 promoter. Immunogenetics 42:444-445.
8. Eskdale J, Kube D, Gallagher G. 1996. A second polymorphic dinucleotide repeat in the 5′ flanking region of the human IL10 gene. Immunogenetics 45:82-83.
9. Eskdale J, Kube D, Tesch H, Gallagher G. 1997. Mapping of the human IL10 gene and further characterization of the 5′ flanking sequence. Immunogenetics 46:120-128.
10. Eskdale J, Keijsers V, Huizinga T, Gallagher G. 1999. Microsatellite alleles and single nucleotide polymorphisms (SNP) combine to form four major haplotype families at the human interleukin-10 (IL-10) locus. Genes Immunol 1:151-155.
11. Eskdale J, McNicholl J, Wordsworth P, Jonas B, Huizinga T, Field M, Gallagher G. 1998. Interleukin-10 microsatellite polymorphisms and IL-10 locus alleles in rheumatoid arthritis susceptibility. Lancet 352:1282-1283.
12. Hajeer AH, Lazarus M, Turner D, Mageed RA, Vencovsky J, Sinnott P, Hutchinson IV, Ollier WE. 1998. IL-10 gene promoter polymorphisms in rheumatoid arthritis. Scand J Rheumatol 27:142-145.
13. Helminen ME, Kilpinen S, Virta M, Hurme M. 2001. Susceptibility to primary Epstein-Barr virus infection is associated with interleukin-10 gene promoter polymorphism. J Infect Dis 184:777-780.
14. Hobbs K, Negri J, Klinnert M, Rosenwasser LJ, Borish L. 1998. Interleukin-10 and transforming growth factor-beta promoter polymorphisms in allergies and asthma. Am J Respir Crit Care Med 158:1958-1962.
15. Hoh J, Wille A, Ott J. 2001. Trimming, weighting, and grouping SNPs in human case-control association studies. Genome Res 11:2115-2119.
16. Horvath S, Xu X, Laird NM. 2001. The family based association test method: strategies for studying general genotype-phenotype associations. Eur J Hum Genet 9:301-306.
17. Huizinga TW, Keijsers V, Yanni G, Hall M, Ramage W, Lanchbury J, Pitzalis C, Drossaers-Bakker WK, Westendorp RG, Breedveld FC, Panayi G, Verweij CL. 2000. Are differences in interleukin 10 production associated with joint damage? Rheumatology (Oxford) 39:1180-1188.
18. Jeannin P, Lecoanet S, Delneste Y, Gauchat JF, Bonnefoy JY. 1998. IgE versus IgG4 production can be differentially regulated by IL-10. J Immunol 160:3555-3561.
19. John M, Lim S, Seybold J, Jose P, Robichaud A, O'Connor B, Barnes PJ, Chung KF. 1998. Inhaled corticosteroids increase interleukin-10 but reduce macrophage inflammatory protein-1alpha, granulocyte-macrophage colony-stimulating factor, and interferon-gamma release from alveolar macrophages in asthma. Am J Respir Crit Care Med 157:256-262.
20. Karjalainen J, Hulkkonen J, Nieminen MM, Huhtala H, Aromaa A, Klaukka T, Hurme M. 2003. Interleukin-10 gene promoter region polymorphism is associated with eosinophil count and circulating immunoglobulin E in adult asthma. Clin Exp Allergy 33:78-83.
21. Knudson RJ, Lebowitz MD, Holberg CJ, Burrows B. 1983. Changes in the normal maximal expiratory flow-volume curve with growth and aging. Am Rev Respir Dis 127:725-734.
22. Kube D, Platzer C, von Knethen A, Straub H, Bohlen H, Hafner M, Tesch H. 1995. Isolation of the human interleukin 10 promoter. Characterization of the promoter activity in Burkitt's lymphoma cell lines. Cytokine 7:1-7.
23. Laird NM, Horvath S, Xu X. 2000. Implementing a unified approach to family-based tests of association. Genet Epidemiol 19(Suppl 1):S36-42.
24. Lange C, DeMeo DL, Laird NM. 2002. Power and design considerations for a general class of family-based association tests: quantitative traits. Am J Hum Genet 71:1330-1341.
25. Lange C, Laird NM. 2002. On a general class of conditional tests for family-based association studies in genetics: the asymptotic distribution, the conditional power, and optimality considerations. Genet Epidemiol 23:165-180.
26. Lange C, Laird NM. 2002. Power calculations for a general class of family-based association tests: dichotomous traits. Am J Hum Genet 71:575-584.
27. Lazarus M, Hajeer AH, Turner D, Sinnott P, Worthington J, Ollier WE, Hutchinson IV. 1997. Genetic variation in the interleukin 10 gene promoter and systemic lupus erythematosus. J Rheumatol 24:2314-2317.
28. Lazarus R, Klimecki W, Palmer L, Kwiatkowski D, Silverman E, Brown A, Martinez F, Weiss S. 2002. Single-nucleotide polymorphisms in the interleukin-10 gene: differences in frequencies, linkage disequilibrium patterns, and haplotypes in three United States ethnic groups. Genomics 80:223.
29. Lazzeroni LC, Lange K. 1998. A conditional inference framework for extending the transmission/disequilibrium test. Hum Hered 48:67-81.
30. Liang K-Y, Zeger SL. 1986. Longitudinal data analysis using generalized linear models. Biometrika 73:3-22.
31. Lim S, Crawley E, Woo P, Barnes PJ. 1998. Haplotype associated with low interleukin-10 production in patients with severe asthma. Lancet 352:113.
32. Lindblad-Toh K, Winchester E, et al. 2000. Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse. Nat Genet 24:381-386.
33. Makela MJ, Kanehiro A, Borish L, Dakhama A, Loader J, Joetham A, Xing Z, Jordana M, Larsen GL, Gelfand EW. 2003. IL-10 is necessary for the expression of airway hyperresponsiveness but not pulmonary inflammation after allergic sensitization. Proc Natl Acad Sci USA 97:6007-6012.
34. Moore KW, de Waal Malefyt R, Coffman RL, O'Garra A. 2001. Interleukin-10 and the interleukin-10 receptor. Annu Rev Immunol 19 683-765.
35. Myhr KM, Vagnes KS, Maroy TH, Aarseth JH, Nyland HI, Vedeler CA. 2002. Interleukin-10 promoter polymorphisms in patients with multiple sclerosis. J Neurol Sci 202:93-97.
36. O'Connell JR, Weeks DE. 1998. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266.
37. Palmer LJ, Celedon JC, Chapman HA, Speizer FE, Weiss ST, Silverman EK. 2003. Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary disease. Hum Mol Genet 12:1199-1210.
38. Powell MJ, Thompson SA, Tone Y, Waldmann H, Tone, M. 2000. Posttranscriptional regulation of IL-10 gene expression through sequences in the 3′-untranslated region. J Immunol 165:292-296.
39. Rabinowitz D, Laird N. 2000. A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information. Hum Hered 50:211-223.
40. Rosenwasser LJ, Borish L. 1997. Genetics of atopy and asthma: the rationale behind promoter-based candidate gene studies (IL-4 and IL-10). Am J Respir Crit Care Med 156:S152-155.
41. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA. 2002. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 70:425-434.
42. Schneider S, Roessli D, Excoffier L. 2000. Arlequin Version 2.000, Software for population genetics data analysis. Genetics and Biometry Laboratory, Department of Anthropology, University of Geneva, Geneva.
43. Shin HD, Winkler C, et al. 2000. Genetic restriction of HIV-1 pathogenesis to AIDS by promoter alleles of IL10. Proc Natl Acad Sci USA 97:14467-14472.
44. Slatkin M, Excoffier L. 1996. Testing for linkage disequilibrium in genotypic data using the Expectation-Maximization algorithm. Heredity 76:377-383.
45. Tomita K, Lim S, Hanazawa T, Usmani O, Stirling R, Chung KF, Barnes PJ, Adcock IM. 2002. Attenuated production of intracellular IL-10 and IL-12 in monocytes from patients with severe asthma. Clin Immunol 102:258-266.
46. Turner DM, Williams DM, Sankaran D, Lazarus M, Sinnott PJ, Hutchinson IV. 1997. An investigation of polymorphism in the interleukin-10 gene promoter. Eur J Immunogenet 24:1-8.
47. Wang X, Dockery DW, Wypij D, Fay ME, Ferris BG Jr. 1993. Pulmonary function between 6 and 18 years of age. Pediatr Pulmonol 15:75-88.
48. Weiss ST, Van Natta ML, Zeiger RS. 2000. Relationship between increased airway responsiveness and asthma severity in the childhood asthma management program. Am J Respir Crit Care Med 162:50-56.
49. Westendorp RG, Langermans JA, Huizinga TW, Elouali AH, Verweij CL, Boomsma DI, Vandenbroucke JP, Vandenbrouke JP. 1997. Genetic influence on cytokine production and fatal meningococcal disease. Lancet 349:170-173.
50. Whittemore AS, Tu IP. 2000. Detection of disease genes by use of family data. I. Likelihood-based theory. Am J Hum Genet 66:1328-1340.