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

被引:21
作者
Donfack, J
Kogut, P
Forsythe, S
Solway, J
Ober, C
机构
[1] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
[2] Univ Chicago, Dept Med, Chicago, IL 60637 USA
关键词
asthma; atopy; muscarinic receptors;
D O I
10.1067/mai.2003.71
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
Background: Muscarinic acetylcholine receptors are members of the superfamily of G protein-coupled, 7 transmembrane-spanning proteins. They are important in the development of airway hyperresponsiveness. In the lung the M-3 receptor, encoded by the cholinergic receptor muscarinic 3 gene, is present in airway smooth muscle and mediates smooth muscle contraction. Objective: We considered the cholinergic, receptor muscarinic 3 gene as a possible candidate gene for bronchial asthma and initiated studies to identify polymorphisms in the promoter region. Method: We identified 4 single-nucleotide polymorphisms; (-708A/G, -627G/C, -513C/A, and -492C/T) and 2 short tandem repeat polymorphisms, a tetranucleotide (CTTT)(12-20) and a dinucleotide (GT)(6-19) repeat. Results: None of the identified single nucleotide polymorphisms were significantly more frequent in asthmatic patients (n = 76) compared with in healthy control subjects (n = 81). Furthermore, there was no evidence for nonrandom transmission of short tandem repeat polymorphism haplotypes to individuals with asthma or bronchial hyperresponsiveness (P > .50) in a large Hutterite pedigree. However, there was significant nonrandom transmission of haplotypes to individuals with skin test reactivity to cockroach allergens (global transmission disequilibrium test: chi(2) = 38.55, P =.013). Conclusions: These results suggest a possible role for this gene in atopic disorders. (J Allergy Clin Immunol 2003;111:527-32.).
引用
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页码:527 / 532
页数:6
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