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

Journal of Human Genetics

Volumn 50, Issue 6, 2005, Pages 276-282

  Sharma, Shilpy ^a   Rajan, U Mabali ^a   Kumar, Amrendra ^a   Soni, Abha ^a   Ghosh, Balaram ^a  

^a CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY   (India)

Author keywords

(TG) n (GA) m repeat polymorphism; Atopic asthma; CMA1; Serum IgE

Indexed keywords

CHYMASE; IMMUNOGLOBULIN E;

ADULT; ALLERGIC ASTHMA; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DNA POLYMORPHISM; DOWNSTREAM PROCESSING; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; INDIAN; MAJOR CLINICAL STUDY; MALE; MAST CELL; NUCLEOTIDE SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ANALYSIS OF VARIANCE; ASTHMA; BASE SEQUENCE; CHYMASES; DNA PRIMERS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; IMMUNOGLOBULIN E; INDIA; MALE; MOLECULAR SEQUENCE DATA; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ANALYSIS, DNA; SERINE ENDOPEPTIDASES;

EID: 23844540960     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-005-0252-x     Document Type: Article

References (32)

1. Caughey GH, Schaumberg TH, Zerweck EH, Butterfield JH, Hanson RD, Silverman GA, Ley TJ (1993) The human mast cell chymase gene (CMA1): mapping to the cathepsin G/granzyme gene cluster and lineage-restricted expression. Genomics 15:614-620
2. CSGA (1997) [No authors listed] A genome-wide search for asthma susceptibility loci in ethnically diversepopulations. The Collaborative Study on the Genetics of Asthma. Nat Genet 15(4):389-392
3. Duvernelle C, Freund V, Frossard N (2003) Transforming growth factor-beta and its role in asthma. Pulm Pharmacol Ther 16:181-196
4. Forrest S, Dunn K, Elliott K, Fitzpatrick E, Fullerton J, McCarthy M, Brown J, Hill D, Williamson R (1999) Identifying genes predisposing to atopic eczema. J Allergy Clin Immunol 104:1066-1070
5. Geha RS, Jabara HH, Brodeur SR (2003) The regulation of immunoglobulin E class-switch recombination. Nat Rev Immunol 3:721-732
6. Ghosh B, Sharma S, Nagarkatti R (2003) Genetics of asthma: current research paving the way for development of personalized drugs. Indian J Med Res 117:185-197
7. Hart PH (2001) Regulation of the inflammatory response in asthma by mast cell products. Immunol Cell Biol 79:149-153
8. He S, Walls AF (1998a) Human mast cell chymase induces the accumulation of neutrophils, eosinophils and other inflammatory cells in vivo. Br J Pharmacol 125:1491-1500
9. He S, Walls AF (1998b) The induction of a prolonged increase in microvascular permeability by human mast cell chymase. Eur J Pharmacol 352:91-98
10. He SH, Xie H, Zhang XJ, Wang XJ (2004) Inhibition of histamine release from human mast cells by natural chymase inhibitors. Acta Pharmacol Sin 25:822-826
11. Imada T, Komorita N, Kobayashi F, Naito K, Yoshikawa T, Miyazaki M, Nakamura N, Kondo T (2002) Therapeutic potential of a specific chymase inhibitor in atopic dermatitis. Jpn J Pharmacol 90:214-217
12. Iwanaga T, McEuen A, Walls AF, Clough JB, Keith TP, Rorke S, Barton SJ, Holgate ST, Holloway JW (2004) 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 34:1037-1042
13. Kawashima T, Noguchi E, Arinami T, Kobayashi K, Otsuka F, Hamaguchi H (1998) No evidence for an association between a variant of the mast cell chymase gene and atopic dermatitis based on case-control and haplotype-relative-risk analyses. Hum Hered 48:271-274
14. Lazaar AL, Plotnick MI, Kucich U, Crichton I, Lotfi S, Das SK, Kane S, Rosenbloom J, Panettieri RA Jr, Schechter NM, Pure E (2002) Mast cell chymase modifies cell-matrix interactions and inhibits mitogen-induced proliferation of human airway smooth muscle cells. J Immunol 169:1014-1020
15. Leskinen M, Wang Y, Leszczynski D, Lindstedt KA, Kovanen PT (2001) Mast cell chymase induces apoptosis of vascular smooth muscle cells. Arterioscler Thromb Vasc Biol 21:516-522
16. Longley BJ, Tyrrell L, Ma Y, Williams DA, Halaban R, Langley K, Lu HS, Schechter NM (1997) Chymase cleavage of stem cell factor yields a bioactive, soluble product. Proc Natl Acad Sci USA 94:9017-9021
17. Mao XQ, Shirakawa T, Yoshikawa T, Yoshikawa K, Kawai M, Sasaki S, Enomoto T, Hashimoto T, Furuyama J, Hopkin JM, Morimoto K (1996) Association between genetic variants of mast-cell chymase and eczema. Lancet 348:581-583
18. Mao XQ, Shirakawa T, Enomoto T, Shimazu S, Dake Y, Kitano H, Hagihara A, Hopkin JM (1998) Association between variants of mast cell chymase gene and serum IgE levels in eczema. Hum Hered 48:38-41
19. Marshall JS (2004) Mast-cell responses to pathogens. Nat Rev Immunol 4:787-799
20. Mizutani H, Schechter N, Lazarus G, Black RA, Kupper TS (1991) Rapid and specific conversion of precursor interleukin 1 beta (IL-1 beta) to an active IL-1 species by human mast cell chymase. J Exp Med 174:821-825
21. Nagpal K, Sharma S, B-Rao C, Nahid S, Niphadkar PV, Sharma SK, Ghosh B (2005) TGFβ 1 haplotypes and asthma in Indian population. J Allergy Clin Immunol 115:527-533
22. Pascale E, Tarani L, Meglio P, Businco L, Battiloro E, Cimino-Reale G, Verna R, D'Ambrosio E (2001) Absence of association between a variant of the mast cell chymase gene and atopic dermatitis in an Italian population. Hum Hered 51:177-179
23. Sharma S, Ghosh B (2004) Association of an intragenic microsatellite marker in CC16 gene with asthma in Indian population. J Hum Genet 49:677-683
24. Sharma S, Nagarkatti R, B-Rao C, Niphadkar PV, Vijayan V, Sharma SK, Ghosh B (2004) A_16_C haplotype in the FcepsilonRIbeta gene confers a higher risk for atopic asthma in the Indian population. Clin Genet 66:417-425
25. Smith KR (2000) Inaugural article: national burden of disease in India from indoor air pollution. Proc Natl Acad Sci USA 97:13286-13293
26. Stephens M, Donnelly P (2003) A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73:1162-1169
27. Tanaka K, Sugiura H, Uehara M, Sato H, Hashimoto-Tamaoki T, Furuyama J (1999) Association between mast cell chymase genotype and atopic eczema: comparison between patients with atopic eczema alone and those with atopic eczema and atopic respiratory disease. Clin Exp Allergy 29:800-803
28. Tomimori Y, Tsuruoka N, Fukami H, Saito K, Horikawa C, Saito M, Muto T, Sugiura N, Yamashiro K, Sumida M, Kakutani S, Fukuda Y (2002) Role of mast cell chymase in allergen-induced biphasic skin reaction. Biochem Pharmacol 64:1187-1193
29. Tunon de Lara JM, Okayama Y, McEuen AR, Heusser CH, Church MK, Walls AF (1994) Release and inactivation of interleukin-4 by mast cells. Ann NY Acad Sci 725:50-58
30. Wang Y, Shiota N, Leskinen MJ, Lindstedt KA, Kovanen PT (2001) Mast cell chymase inhibits smooth muscle cell growth and collagen expression in vitro: transforming growth factor-beta1-dependent and -independent effects. Arterioscler Thromb Vasc Biol 21:1928-1933
31. Wang L, Soria JC, Chang YS, Lee HY, Wei Q, Mao L (2003) Association of a functional tandem repeats in the downstream of human telomerase gene and lung cancer. Oncogene 22:7123-7129
32. Yoshikawa T, Imada T, Nakakubo H, Nakamura N, Naito K (2001) Rat mast cell protease-I enhances immunoglobulin E production by mouse B cells stimulated with interleukin-4. Immunology 104:333-340