| 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 |
| IgE |
| 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 |
| URI: | http://hdl.handle.net/2115/17081 |
| 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)
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