Sequence variation in the promoter region of the cholinergic receptor muscarinic 3 gene and asthma and atopy

作者: Joseph Donfack , Paul Kogut , Sean Forsythe , Julian Solway , Carole Ober

DOI: 10.1067/MAI.2003.71

关键词: HaplotypeReceptorInternal medicineBronchial hyperresponsivenessSingle-nucleotide polymorphismShort Tandem Repeat PolymorphismSmooth muscle contractionEndocrinologyMuscarinic acetylcholine receptorImmunologyBiologyCandidate geneImmunology and Allergy

摘要: Abstract Background: Muscarinic acetylcholine receptors are members of the superfamily G protein–coupled, 7 transmembrane– spanning proteins. They important in development airway hyperresponsiveness. In lung M 3 receptor, encoded by cholinergic receptor muscarinic gene, is present smooth muscle and mediates contraction. Objective: We considered gene as a possible candidate for bronchial asthma initiated studies to identify polymorphisms promoter region. Method: identified 4 single-nucleotide (−708A/G, −627G/C, −513C/A, −492C/T) 2 short tandem repeat polymorphisms, tetranucleotide (CTTT) 12-20 dinucleotide (GT) 6-19 repeat. Results: None single nucleotide were significantly more frequent asthmatic patients (n = 76) compared with healthy control subjects 81). Furthermore, there was no evidence nonrandom transmission polymorphism haplotypes individuals or hyperresponsiveness ( P > .50) large Hutterite pedigree. However, significant skin test reactivity cockroach allergens (global disequilibrium test: χ 38.55, .013). Conclusions: These results suggest role this atopic disorders. (J Allergy Clin Immunol 2003;111:527-32.)

参考文章(33)
E Sobel, D E Weeks, J R O'Connell, K Lange, Computer programs for multilocus haplotyping of general pedigrees. American Journal of Human Genetics. ,vol. 56, pp. 1506- 1507 ,(1995)
Matthias Wjst, Guido Fischer, Thomas Immervoll, Martin Jung, Kathrin Saar, Franz Rueschendorf, André Reis, Matthias Ulbrecht, Maria Gomolka, Elisabeth H. Weiss, Lothar Jaeger, Renate Nickel, Kai Richter, N.-I.Max Kjellman, Matthias Griese, Andrea von Berg, Monika Gappa, Frank Riedel, Martin Boehle, Silke van Koningsbruggen, Peter Schoberth, Ruediger Szczepanski, Walter Dorsch, Michael Silbermann, Sabine Loesgen, Michael Scholz, Heike Bickeböller, Heinz-Erich Wichmann, A Genome-wide Search for Linkage to Asthma Genomics. ,vol. 58, pp. 1- 8 ,(1999) , 10.1006/GENO.1999.5806
W J Ewens, R S Spielman, The TDT and other family-based tests for linkage disequilibrium and association. American Journal of Human Genetics. ,vol. 59, pp. 983- 989 ,(1996)
Alfred O. Berg, Julie Graves Moy, Guidelines for the diagnosis and management of asthma. Journal of The American Board of Family Practice. ,vol. 5, pp. 629- 634 ,(1992) , 10.3122/JABFM.5.6.629
Lucille A Lester, Stephen S Rich, Malcolm N Blumenthal, Alkis Togias, Shirley Murphy, Floyd Malveaux, Michael E Miller, Georgia M Dunston, Julian Solway, Raoul L Wolf, Jonathan M Samet, David G Marsh, Deborah A Meyers, Carole Ober, Eugene R Bleecker, Collaborative Study on the Genetics of Asthma, Ethnic differences in asthma and associated phenotypes: Collaborative Study on the Genetics of Asthma The Journal of Allergy and Clinical Immunology. ,vol. 108, pp. 357- 362 ,(2001) , 10.1067/MAI.2001.117796
Sean M. Forsythe, Paul C. Kogut, John F. McConville, Yiping Fu, Joel A. McCauley, Andrew J. Halayko, Hong Wei Liu, Allen Kao, Darren J. Fernandes, Shashi Bellam, Elaine Fuchs, Satrajit Sinha, Graeme I. Bell, Blanca Camoretti-Mercado, Julian Solway, Structure and Transcription of the Human m3 Muscarinic Receptor Gene American Journal of Respiratory Cell and Molecular Biology. ,vol. 26, pp. 298- 305 ,(2002) , 10.1165/AJRCMB.26.3.4564
Jane C Dewar, Jane Wilkinson, Amanda Wheatley, N Simon Thomas, Iolo Doull, Newton Morton, P Lio, John F Harvey, Stephen B Liggett, Stephen T Holgate, Ian P Hall, The glutamine 27 β2-adrenoceptor polymorphism is associated with elevated IgE levels in asthmatic families The Journal of Allergy and Clinical Immunology. ,vol. 100, pp. 261- 265 ,(1997) , 10.1016/S0091-6749(97)70234-3
A.F. Roffel, C.R.S. Elzinga, J. Zaagsma, Muscarinic M3 receptors mediate contraction of human central and peripheral airway smooth muscle. Pulmonary Pharmacology. ,vol. 3, pp. 47- 51 ,(1990) , 10.1016/0952-0600(90)90009-8
T. Bonner, N. Buckley, A. Young, M. Brann, Identification of a family of muscarinic acetylcholine receptor genes Science. ,vol. 237, pp. 527- 532 ,(1987) , 10.1126/SCIENCE.3037705