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Polymorphisms in the muscarinic receptor 1 gene confer susceptibility to asthma in Japanese subjects.

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Title: Polymorphisms in the muscarinic receptor 1 gene confer susceptibility to asthma in Japanese subjects.
Authors: Maeda, Yukiko Browse this author
Hizawa, Nobuyuki Browse this author
Jinushi, Eisei Browse this author
Honda, Ayumi Browse this author
Takahashi, Daisuke Browse this author
Fukui, Yoshinobu Browse this author
Konno, Satoshi Browse this author
Shimizu, Tadamichi Browse this author
Shimizu, Hiroshi Browse this author →KAKEN DB
Yamaguchi, Etsuro Browse this author
Nishimura, Masaharu Browse this author →KAKEN DB
Keywords: case-control studies
muscarinic cholinergic receptor-1
single-nucleotide polymorphism
Issue Date: 15-Nov-2006
Publisher: American Thoracic Society (ATS)
Journal Title: American Journal of Respiratory and Critical Care Medicine
Volume: 174
Issue: 10
Start Page: 1119
End Page: 1124
Publisher DOI: 10.1164/rccm.200601-081OC
PMID: 16931638
Abstract: Methods: We studied nine single-nucleotide polymorphisms (–18379G > A, –9697C > T, –6965T > C, –4953A > G, +267A > C, +1353C > T, +3970C > G, +5418C > G, and +5455G > T) in a case-control study using 326 patients with asthma and 333 healthy control subjects. We also examined functional consequences of the –9697C > T and –4953A > G polymorphisms at the regulatory region using an mRNA reporter assay. Measurements and Main Results: Two common single-nucleotide polymorphisms (–9697C > T and –4953A > G) were associated with asthma. The odds ratio for the TT homozygotes at the –9697C > T polymorphism was 0.29 compared with the CC homozygotes (95% confidence interval, 0.12–0.73; p = 0.008), and the odds ratio for the GG homozygotes at the –4953A > G polymorphism was 1.86 compared with the AA homozygotes (95% confidence interval, 1.04–3.34; p = 0.038). Haplotype analysis showed that the –9697T/–6965T/–4953A haplotype was associated with a lower risk of asthma (p = 0.00055) and the –9697C/–6965T/–4953G haplotype was associated with an increased risk of asthma (p = 0.020). The –9697T/–4953A haplotype was also associated with lower luciferase activity in vitro compared with the –9697C/–4953G haplotype. Conclusions: This study, together with an in vitro functional study, suggests that the CHRM1 gene is an important susceptibility locus for asthma on chromosome11q13.
Type: article
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 檜澤 伸之

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