Association of STR polymorphisms in CMA1 and IL-4 with asthma and atopy: The SAPALDIA Cohort

Human Immunology

Volumn 71, Issue 11, 2010, Pages 1154-1160

  Hersberger, Martin ^a   Thun, Gian Andri ^b   Imboden, Medea ^b   Brandstätter, Anita ^c   Waechter, Vanessa ^a   Summerer, Monika ^c   Schmid Grendelmeier, Peter ^d   Bircher, Andreas ^e   Rohrer, Lucia ^f   Berger, Wolfgang ^g   Russi, Erich W ^h   Rochat, Thierry ⁱ   Kronenberg, Florian ^c   Probst Hensch, Nicole ^b  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF BASEL   (Switzerland)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^d UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^e UNIVERSITY HOSPITAL BASEL   (Switzerland)

^f UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^g UNIVERSITY OF ZURICH   (Switzerland)

^h UNIVERSITY HOSPITAL ZURICH   (Switzerland)

ⁱ GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

Asthma; Atopy; Bronchial hyperresponsiveness; CC10; CC16; CMA1; Genetics; Haplotype; IL 4; Polymorphism; SCGB1A1; Short tandem repeat; STR; TNF ; UGB

Indexed keywords

INTERLEUKIN 4; TUMOR NECROSIS FACTOR ALPHA; UTEROGLOBIN;

ADULT; ALLERGIC ASTHMA; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; MAJOR CLINICAL STUDY; MALE; PRICK TEST; PRIORITY JOURNAL; SHORT TANDEM REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; ASTHMA; BRONCHIAL HYPERREACTIVITY; CHYMASES; DISEASE PROGRESSION; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; IMMUNOGLOBULIN E; INTERLEUKIN-4; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; SKIN TESTS; SWITZERLAND; TUMOR NECROSIS FACTOR-ALPHA; UTEROGLOBIN;

EID: 77957751665     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.humimm.2010.08.008     Document Type: Article

References (53)

1. Cohn L., Elias J.A., Chupp G.L. Asthma: Mechanisms of disease persistence and progression. Annu Rev Immunol 2004, 22:789-815.
2. Busse W.W., Lemanske R.F. Asthma. N Engl J Med 2001, 344:350-362.
3. Weiss S.T., Raby B.A., Rogers A. Asthma genetics and genomics 2009. Curr Opin Genet Dev 2009, 19:279-282.
4. Moffatt M.F., Kabesch M., Liang L., Dixon A.L., Strachan D., Heath S., et al. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 2007, 448:470-473.
5. Himes B.E., Hunninghake G.M., Baurley J.W., Rafaels N.M., Sleiman P., Strachan D.P., et al. Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene. Am J Hum Genet 2009, 84:581-593.
6. Repapi E., Sayers I., Wain L.V., Burton P.R., Johnson T., Obeidat M., et al. Genome-wide association study identifies five loci associated with lung function. Nat Genet 2010, 42:36-44.
7. Ott J., Rabinowitz D. The effect of marker heterozygosity on the power to detect linkage disequilibrium. Genetics 1997, 147:927-930.
8. Chapman N.H., Wijsman E.M. Genome screens using linkage disequilibrium tests: Optimal marker characteristics and feasibility. Am J Hum Genet 1998, 63:1872-1885.
9. Petrukhin K., Fischer S.G., Pirastu M., Tanzi R.E., Chernov I., Devoto M., et al. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat Genet 1993, 5:338-343.
10. Rust S., Rosier M., Funke H., Real J., Amoura Z., Piette J.C., et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 1999, 22:352-355.
11. Votruba M., Moore A.T., Bhattacharya S.S. Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: A study of 38 British Isles pedigrees. Hum Genet 1998, 102:79-86.
12. Pandolfo M., Sirugo G., Antonelli A., Weitnauer L., Ferretti L., Leone M., et al. Friedreich ataxia in Italian families: Genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15. Am J Hum Genet 1990, 47:228-235.
13. Warpeha K.M., Xu W., Liu L., Charles I.G., Patterson C.C., Ah-Fat F., et al. Genotyping and functional analysis of a polymorphic (CCTTT) (n) repeat of NOS2A in diabetic retinopathy. FASEB J 1999, 13:1825-1832.
14. Silverman E.S., Du J., De Sanctis G.T., Radmark O., Samuelsson B., Drazen J.M., Collins T. Egr-1 and Sp1 interact functionally with the 5-lipoxygenase promoter and its naturally occurring mutants. Am J Respir Cell Mol Biol 1998, 19:316-323.
15. In K.H., Asano K., Beier D., Grobholz J., Finn P.W., Silverman E.K., et al. Naturally occurring mutations in the human 5-lipoxygenase gene promoter that modify transcription factor binding and reporter gene transcription. J Clin Invest 1997, 99:1130-1137.
16. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington disease chromosomes. Cell 1993, 72:971-983. Huntington's Disease Collaborative Research Group.
17. Zitzmann M., Nieschlag E. The CAG repeat polymorphism within the androgen receptor gene and maleness. Int J Androl 2003, 26:76-83.
18. Hersberger M., Muntwyler J., Funke H., Marti-Jaun J., Schulte H., Assmann G., et al. The CAG repeat polymorphism in the androgen receptor Gene is associated with HDL-cholesterol but not with coronary atherosclerosis or myocardial infarction. Clin Chem 2005, 51:1110-1115.
19. Hossny EM, Amr NH, Elsayed SB, Nasr RA, Ibraheim EM. Association of polymorphisms in the mast cell chymase gene promoter region (-1903 g/A) and (TG)n(GA)m repeat downstream of the gene with bronchial asthma in children. J Investig Allergol Clin Immunol;18:376-81.
20. Sharma S., Rajan U.M., Kumar A., Soni A., Ghosh B. A novel (TG)n(GA)m repeat polymorphism 254 bp downstream of the mast cell chymase (CMA1) gene is associated with atopic asthma and total serum IgE levels. J Hum Genet 2005, 50:276-282.
21. Iwanaga T., McEuen A., Walls A.F., Clough J.B., Keith T.P., Rorke S., et al. Polymorphism of the mast cell chymase gene (CMA1) promoter region: Lack of association with asthma but association with serum total immunoglobulin E levels in adult atopic dermatitis. Clin Exp Allergy 2004, 34:1037-1042.
22. Bradding P., Walls A.F., Holgate S.T. The role of the mast cell in the pathophysiology of asthma. J Allergy Clin Immunol 2006, 117:1277-1284.
23. He S., Walls A.F. Human mast cell chymase induces the accumulation of neutrophils, eosinophils and other inflammatory cells in vivo. Br J Pharmacol 1998, 125:1491-1500.
24. He S., Walls A.F. The induction of a prolonged increase in microvascular permeability by human mast cell chymase. Eur J Pharmacol 1998, 352:91-98.
25. Sharma S., Ghosh B. Association of an intragenic microsatellite marker in the CC16 gene with asthma in the Indian population. J Hum Genet 2004, 49:677-683.
26. Choi M., Zhang Z., Ten Kate L.P., Collee J.M., Gerritsen J., Mukherjee A.B. Human uteroglobin gene polymorphisms and genetic susceptibility to asthma. Ann NY Acad Sci 2000, 923:303-306.
27. Laing I.A., de Klerk N.H., Turner S.W., Judge P.K., Hayden C.M., Landau L.I., et al. Cross-sectional and longitudinal association of the secretoglobin 1A1 gene A38G polymorphism with asthma phenotype in the Perth Basin Infant Asthma Follow-up cohort. Clin Exp Allergy 2009, 39:62-71.
28. Laing I.A., Goldblatt J., Eber E., Hayden C.M., Rye P.J., Gibson N.A., et al. A polymorphism of the CC16 gene is associated with an increased risk of asthma. J Med Genet 1998, 35:463-467.
29. Saadat M., Saadat I., Saboori Z., Emad A. Combination of CC16, GSTM1, and GSTT1 genetic polymorphisms is associated with asthma. J Allergy Clin Immunol 2004, 113:996-998.
30. Gao P.S., Mao X.Q., Kawai M., Enomoto T., Sasaki S., Tanabe O., et al. Negative association between asthma and variants of CC16(CC10) on chromosome 11q13 in British and Japanese populations. Hum Genet 1998, 103:57-84.
31. Shijubo N., Itoh Y., Yamaguchi T., Sugaya F., Hirasawa M., Yamada T., et al. Serum levels of Clara cell 10-kDa protein are decreased in patients with asthma. Lung 1999, 177:45-52.
32. Van Vyve T., Chanez P., Bernard A., Bousquet J., Godard P., Lauwerijs R., Sibille Y. Protein content in bronchoalveolar lavage fluid of patients with asthma and control subjects. J Allergy Clin Immunol 1995, 95:60-68.
33. Martin A.C., Laing I.A., Khoo S.K., Zhang G., Rueter K., Teoh L., et al. Acute asthma in children: Relationships among CD14 and CC16 genotypes, plasma levels, and severity. Am J Respir Crit Care Med 2006, 173:617-622.
34. Castro-Giner F., Kogevinas M., Imboden M., de Cid R., Jarvis D., Machler M., et al. Joint effect of obesity and TNFα variability on asthma: Two international cohort studies. Eur Respir J 2009, 33:1003-1009.
35. Castro-Giner F., Kogevinas M., Machler M., de Cid R., Van Steen K., Imboden M., et al. TNFα -308G > A in two international population-based cohorts and risk of asthma. Eur Respir J 2008, 32:350-361.
36. Turner D.M., Grant S.C., Lamb W.R., Brenchley P.E., Dyer P.A., Sinnott P.J., Hutchinson I.V. A genetic marker of high TNF-alpha production in heart transplant recipients. Transplantation 1995, 60:1113-1117.
37. Kabesch M., Tzotcheva I., Carr D., Hofler C., Weiland S.K., Fritzsch C., et al. A complete screening of the IL4 gene: Novel polymorphisms and their association with asthma and IgE in childhood. J Allergy Clin Immunol 2003, 112:893-898.
38. Ackermann-Liebrich U., Kuna-Dibbert B., Probst-Hensch N.M., Schindler C., Felber D.D., Stutz E.Z., et al. Follow-up of the Swiss Cohort Study on Air Pollution and Lung Diseases in Adults (SAPALDIA 2) 1991-2003: Methods and characterization of participants. Soz Praventivmed 2005, 50:245-263.
39. Martin B.W., Ackermann-Liebrich U., Leuenberger P., Kunzli N., Stutz E.Z., Keller R., et al. SAPALDIA: Methods and participation in the cross-sectional part of the Swiss Study on Air Pollution and Lung Diseases in Adults. Soz Praventivmed 1997, 42:67-84.
40. Wuthrich B., Schindler C., Medici T.C., Zellweger J.P., Leuenberger P. IgE levels, atopy markers and hay fever in relation to age, gender and smoking status in a normal adult Swiss population. SAPALDIA (Swiss Study on Air Pollution and Lung Diseases in Adults) Team. Int Arch Allergy Immunol 1996, 111:396-402.
41. Wuthrich B., Schindler C., Leuenberger P., Ackermann-Liebrich U. Prevalence of atopy and pollinosis in the adult population of Switzerland (SAPALDIA study). Swiss Study on Air Pollution and Lung Diseases in Adults. Int Arch Allergy Immunol 1995, 106:149-156.
42. Leuenberger P., Schindler C., Schwartz J., Ackermann-Liebrich U., Tara D., Perruchoud A.P., et al. Occupational exposure to inhalative irritants and methacholine responsiveness. Scand J Work Environ Health 2000, 26:146-152.
43. Hay J.G., Danel C., Chu C.S., Crystal R.G. Human CC10 gene expression in airway epithelium and subchromosomal locus suggest linkage to airway disease. Am J Physiol 1995, 268:L565-L575.
44. Spink C.F., Keen L.J., Middleton P.G., Bidwell J.L. Discrimination of suballeles present at the TNFd microsatellite locus using induced heteroduplex analysis. Genes Immun 2004, 5:76-79.
45. Fleiss J.L. Analysis of data from multiclinic trials. Control Clin Trials 1986, 7:267-275.
46. Tuglular S., Berthoux P., Berthoux F. Polymorphisms of the tumour necrosis factor alpha gene at position -308 and TNFd microsatellite in primary IgA nephropathy. Nephrol Dial Transplant 2003, 18:724-731.
47. Thibaudin D., Thibaudin L., Berthoux P., Mariat C., Filippis J.P., Laurent B., et al. TNFA2 and d2 alleles of the tumor necrosis factor alpha gene polymorphism are associated with onset/occurrence of idiopathic membranous nephropathy. Kidney Int 2007, 71:431-437.
48. Reed C.E., Kita H. The role of protease activation of inflammation in allergic respiratory diseases. J Allergy Clin Immunol 2004, 114:997-1008.
49. Chien Y.H., Hwu W.L., Chiang B.L. The genetics of atopic dermatitis. Clin Rev Allergy Immunol 2007, 33:178-190.
50. Li Y., Guo B., Zhang L., Han J., Wu B., Xiong H. Association between C-589T polymorphisms of interleukin-4 gene promoter and asthma: A meta-analysis. Respir Med 2008, 102:984-992.
51. Rosenwasser L.J., Borish L. Genetics of atopy and asthma: The rationale behind promoter-based candidate gene studies (IL-4 and IL-10). Am J Respir Crit Care Med 1997, 156:S152-S155.
52. Akkad D.A., Arning L., Ibrahim S.M., Epplen J.T. Gender specifically associated promoter polymorphism in multiple sclerosis affects interleukin 4 expression levels. Genes Immun 2007, 8:703-706.
53. Spink C.F., Keen L.J., Mensah F.K., Law G.R., Bidwell J.L., Morgan G.J. Association between non-Hodgkin lymphoma and haplotypes in the TNF region. Br J Haematol 2006, 133:293-300.