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

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タイトル: Polymorphisms in the muscarinic receptor 1 gene confer susceptibility to asthma in Japanese subjects.
著者: Maeda, Yukiko 著作を一覧する
Hizawa, Nobuyuki 著作を一覧する
Jinushi, Eisei 著作を一覧する
Honda, Ayumi 著作を一覧する
Takahashi, Daisuke 著作を一覧する
Fukui, Yoshinobu 著作を一覧する
Konno, Satoshi 著作を一覧する
Shimizu, Tadamichi 著作を一覧する
Shimizu, Hiroshi 著作を一覧する
Yamaguchi, Etsuro 著作を一覧する
Nishimura, Masaharu 著作を一覧する
キーワード: case-control studies
muscarinic cholinergic receptor-1
single-nucleotide polymorphism
発行日: 2006年11月15日
出版者: American Thoracic Society (ATS)
誌名: American Journal of Respiratory and Critical Care Medicine
巻: 174
号: 10
開始ページ: 1119
終了ページ: 1124
出版社 DOI: 10.1164/rccm.200601-081OC
抄録: 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.
資料タイプ: article
出現コレクション:雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

提供者: 檜澤 伸之


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