Associations of a novel IL4RA polymorphism, Ala57Thr, in Greenlander Inuit

Journal of Allergy and Clinical Immunology

Volumn 118, Issue 3, 2006, Pages 627-634

  Khoo, Siew Kim ^a   Zhang, Guicheng ^a   Backer, Vibeke ^b   Porsbjerg, Celeste ^b   Nepper Christensen, Steen ^b   Creegan, Rhona ^c   Baynam, Gareth ^a   de Klerk, Nicholas ^d   Rossi, Giovanni A ^e   Hagel, Isabel ^f   Di Prisco, Maria C ^f   Lynch, Neil ^f   Britton, John ^g   Hall, Ian ^g   Musk, Arthur W ^h   Goldblatt, Jack ^c   Le Souëf, Peter N ^a   the Greenlandic Population Study Group, ⁱ  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b Mental Health Services CPH   (Denmark)

^c PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^e G GASLINI INSTITUTE   (Italy)

^f INSTITUTO DE BIOMEDICINA   (Venezuela)

^g UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^h SIR CHARLES GAIRDNER HOSPITAL   (Australia)

ⁱ NONE

Author keywords

asthma; atopy; IL4RA polymorphism; Inuit; rhinitis

Indexed keywords

ALANINE; INTERLEUKIN 4 RECEPTOR ALPHA; ISOLEUCINE; THREONINE; VALINE;

ADULT; ALLERGIC ASTHMA; ARTICLE; ATOPY; CONTROLLED STUDY; DENMARK; DNA POLYMORPHISM; DOSE RESPONSE; ETHNOLOGY; FEMALE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GREENLAND; HUMAN; LUNG FUNCTION; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RHINITIS; RISK; SCREENING;

ADULT; ALANINE; ALLELES; AMINO ACID SUBSTITUTION; DENMARK; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GREENLAND; HAPLOTYPES; HUMANS; HYPERSENSITIVITY, IMMEDIATE; INTERLEUKIN-4 RECEPTOR ALPHA SUBUNIT; INUITS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, INTERLEUKIN-4; RHINITIS, ALLERGIC, SEASONAL; THREONINE;

EID: 33748062636     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2006.05.009     Document Type: Article

References (50)

1. Morton N.E. Major loci for atopy?. Clin Exp Allergy 22 (1992) 1041-1043
2. O'Donnell A.R., Toelle B.G., Marks G.B., Hayden C.M., Laing I.A., Peat J.K., et al. Age-specific relationship between CD14 and atopy in a cohort assessed from age 8 to 25 years. Am J Respir Crit Care Med 169 (2004) 615-622
3. Daniels S.E., Bhattacharrya S., James A., Leaves N.I., Young A., Hill M.R., et al. A genome-wide search for quantitative trait loci underlying asthma. Nature 383 (1996) 247-250
4. Deichmann K.A., Heinzmann A., Forster J., Dischinger S., Mehl C., Brueggenolte E., et al. Linkage and allelic association of atopy and markers flanking the IL4-receptor gene. Clin Exp Allergy 28 (1998) 151-155
5. Ober C., Tsalenko A., Willadsen S., Newman D., Daniel R., Wu X., et al. Genome-wide screen for atopy susceptibility alleles in the Hutterites. Clin Exp Allergy 29 suppl 4 (1999) 11-15
6. Ober C., Tsalenko A., Parry R., and Cox N.J. A second-generation genomewide screen for asthma-susceptibility alleles in a founder population. Am J Hum Genet 67 (2000) 1154-1162
7. Marsh D.G., Neely J.D., Breazeale D.R., Ghosh B., Freidhoff L.R., Ehrlich-Kautzky E., et al. Linkage analysis of IL4 and other chromosome 5q31.1 markers and total serum immunoglobulin E concentrations. Science 264 (1994) 1152-1156
8. Cookson W.O., Sharp P.A., Faux J.A., and Hopkin J.M. Linkage between immunoglobulin E responses underlying asthma and rhinitis and chromosome 11q. Lancet 1 (1989) 1292-1295
9. Ober C., Leavitt S.A., Tsalenko A., Howard T.D., Hoki D.M., Daniel R., et al. Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations. Am J Hum Genet 66 (2000) 517-526
10. Idzerda R.L., March C.J., Mosley B., Lyman S.D., Vanden Bos T., Gimpel S.D., et al. Human interleukin 4 receptor confers biological responsiveness and defines a novel receptor superfamily. J Exp Med 171 (1990) 861-873
11. Russell S.M., Johnston J.A., Noguchi M., Kawamura M., Bacon C.M., Friedmann M., et al. Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID. Science 266 (1994) 1042-1045
12. Hershey G.K., Friedrich M.F., Esswein L.A., Thomas M.L., and Chatila T.A. The association of atopy with a gain-of-function mutation in the alpha subunit of the interleukin-4 receptor. N Engl J Med 337 (1997) 1720-1725
13. Mitsuyasu H., Izuhara K., Mao X.Q., Gao P.S., Arinobu Y., Enomoto T., et al. Ile50Val variant of IL4R alpha upregulates IgE synthesis and associates with atopic asthma. Nat Genet 19 (1998) 119-120
14. Kruse S., Japha T., Tedner M., Sparholt S.H., Forster J., Kuehr J., et al. The polymorphisms S503P and Q576R in the interleukin-4 receptor alpha gene are associated with atopy and influence the signal transduction. Immunology 96 (1999) 365-371
15. Hytonen A.M., Lowhagen O., Arvidsson M., Balder B., Bjork A.L., Lindgren S., et al. Haplotypes of the interleukin-4 receptor alpha chain gene associate with susceptibility to and severity of atopic asthma. Clin Exp Allergy 34 (2004) 1570-1575
16. Takabayashi A., Ihara K., Sasaki Y., Suzuki Y., Nishima S., Izuhara K., et al. Childhood atopic asthma: positive association with a polymorphism of IL-4 receptor alpha gene but not with that of IL-4 promoter or Fc epsilon receptor I beta gene. Exp Clin Immunogenet 17 (2000) 63-70
17. Noguchi E., Shibasaki M., Arinami T., Takeda K., Yokouchi Y., Kobayashi K., et al. No association between atopy/asthma and the ILe50Val polymorphism of IL-4 receptor. Am J Respir Crit Care Med 160 (1999) 342-345
18. Migliaccio C., Patuzzo C., Malerba G., Trabetti E., Galavotti R., Pescollderung L., et al. No linkage or association of five polymorphisms in the interleukin-4 receptor alpha gene with atopic asthma in Italian families. Eur J Immunogenet 30 (2003) 349-353
19. Izuhara K., Yanagihara Y., Hamasaki N., Shirakawa T., and Hopkin J.M. Atopy and the human IL-4 receptor alpha chain. J Allergy Clin Immunol 106 suppl (2000) S65-S71
20. Risma K.A., Wang N., Andrews R.P., Cunningham C.M., Ericksen M.B., Bernstein J.A., et al. V75R576 IL-4 receptor alpha is associated with allergic asthma and enhanced IL-4 receptor function. J Immunol 169 (2002) 1604-1610
21. Beghe B., Barton S., Rorke S., Peng Q., Sayers I., Gaunt T., et al. Polymorphisms in the interleukin-4 and interleukin-4 receptor alpha chain genes confer susceptibility to asthma and atopy in a Caucasian population. Clin Exp Allergy 33 (2003) 1111-1117
22. Bottini N., Borgiani P., Otsu A., Saccucci P., Stefanini L., Greco E., et al. IL-4 receptor alpha chain genetic polymorphism and total IgE levels in the English population: two-locus haplotypes are more informative than individual SNPs. Clin Genet 61 (2002) 288-292
23. Bjerregaard P., Jorgensen M.E., Lumholt P., Mosgaard L., and Borch-Johnsen K. Higher blood pressure among Inuit migrants in Denmark than among the Inuit in Greenland. J Epidemiol Community Health 56 (2002) 279-284
24. Backer V., Nepper-Christensen S., Porsbjerg C., von Linstow M.L., and Reersted P. Respiratory symptoms in Greenlanders living in Greenland and Denmark: a population-based study. Ann Allergy Asthma Immunol 93 (2004) 76-82
25. Von Linstow M.L., Porsbjerg C., Ulrik C.S., Nepper-Christensen S., and Backer V. Prevalence and predictors of atopy among young Danish adults. Clin Exp Allergy 32 (2002) 520-525
26. Ortiz D., Cavazza M.E., Rodriguez O., Hagel I., Correnti M., and Convit J. Prevalence of Helicobacter pylori infection in Warao lineage communities of Delta Amacuro State, Venezuela. Mem Inst Oswaldo Cruz 98 (2003) 721-725
27. Lynch N.R., Hagel I.A., Palenque M.E., Di Prisco M.C., Escudero J.E., Corao L.A., et al. Relationship between helminthic infection and IgE response in atopic and nonatopic children in a tropical environment. J Allergy Clin Immunol 101 (1998) 217-221
28. Scrivener S., Yemaneberhan H., Zebenigus M., Tilahun D., Girma S., Ali S., et al. Independent effects of intestinal parasite infection and domestic allergen exposure on risk of wheeze in Ethiopia: a nested case-control study. Lancet 358 (2001) 1493-1499
29. Bremner P.R., de Klerk N.H., Ryan G.F., James A.L., Musk M., Murray C., et al. Respiratory symptoms and lung function in aborigines from tropical Western Australia. Am J Respir Crit Care Med 158 (1998) 1724-1729
30. Young S., Le Souef P.N., Geelhoed G.C., Stick S.M., Turner K.J., and Landau L.I. The influence of a family history of asthma and parental smoking on airway responsiveness in early infancy. N Engl J Med 324 (1991) 1168-1173
31. Dreborg S. The skin prick test in the diagnosis of atopic allergy. J Am Acad Dermatol 21 (1989) 820-821
32. Asher M.I., Keil U., Anderson H.R., Beasley R., Crane J., Martinez F., et al. International Study of Asthma and Allergies in Childhood (ISAAC): rationale and methods. Eur Respir J 8 (1995) 483-491
33. Backer V., Nepper-Christensen S., Ulrik C.S., von Linstow M.L., and Porsbjerg C. Factors associated with asthma in young Danish adults. Ann Allergy Asthma Immunol 89 (2002) 148-154
34. Oefner P., and Underhill P. DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC). Current protocols in human genetics (1998), Wiley & Sons, New York p. 7.10.1-2
35. Stephens M., Smith N.J., and Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68 (2001) 978-989
36. Lewontin R.C. The Interaction of selection and linkage. Ii. Optimum models. Genetics 50 (1964) 757-782
37. Apple R.J., Erlich H.A., Klitz W., Manos M.M., Becker T.M., and Wheeler C.M. HLA DR-DQ associations with cervical carcinoma show papillomavirus-type specificity. Nat Genet 6 (1994) 157-162
38. Betensky R.A., Hudson J.I., Jones C.A., Hu F., Wang B., Chen C., et al. A computationally simple test of homogeneity of odds ratios for twin data. Genet Epidemiol 20 (2001) 228-238
39. Rothman K. Modern Epidemiology (1986), Little, Brown & Company, Boston p. 147-50
40. Perneger T.V. What's wrong with Bonferroni adjustments. BJM 316 (1998) 1236-1238
41. Porsbjerg C., Linstow M.L., Nepper-Christensen S.C., Rasmussen A., Korsgaard J., Nolte H., et al. Allergen sensitization and allergen exposure in Greenlander Inuit residing in Denmark and Greenland. Respir Med 96 (2002) 736-744
42. Stephens J.C., Schneider J.A., Tanguay D.A., Choi J., Acharya T., Stanley S.E., et al. Haplotype variation and linkage disequilibrium in 313 human genes. Science 293 (2001) 489-493
43. Morrison J.A., Gruppo R., Glueck C.J., Stroop D., Fontaine R.N., Wang P., et al. Population-specific alleles: the polymorphism (K121Q) of the human glycoprotein PC-1 gene is strongly associated with race but not with insulin resistance in black and white children. Metabolism 53 (2004) 465-468
44. Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 22 (1999) 231-238
45. Halushka M.K., Mathews D.J., Bailey J.A., and Chakravarti A. GIST: A web tool for collecting gene information. Physiol Genomics 1 (1999) 75-81
46. Kruglyak L., and Nickerson D.A. Variation is the spice of life. Nat Genet 27 (2001) 234-236
47. Le Souef P.N., Goldblatt J., and Lynch N.R. Evolutionary adaptation of inflammatory immune responses in human beings. Lancet 356 (2000) 242-244
48. Hagel I., Di Prisco M.C., Goldblatt J., and Le Souef P.N. The role of parasites in genetic susceptibility to allergy: IgE, helminthic infection and allergy, and the evolution of the human immune system. Clin Rev Allergy Immunol 26 (2004) 75-83
49. Harper A.B. Origins and divergence of Aleuts, Eskimos, and American Indians. Ann Hum Biol 7 (1980) 547-554
50. Lezcano-Meza D., Davila-Davila B., Vega-Miranda A., Negrete-Garcia M.C., and Teran L.M. Interleukin (IL)-4 and to a lesser extent either IL-13 or interferon-gamma regulate the production of eotaxin-2/CCL24 in nasal polyps. Allergy 58 (2003) 1011-1017