Association between a polymorphism in cysteinyl leukotriene receptor 2 on chromosome 13q14 and atopic asthma
Association between a polymorphism in cysteinyl leukotriene receptor 2 on chromosome 13q14 and atopic asthma
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DOI：
10.1097/00008571-200410000-00006
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发表时间：
2004-10-01
期刊：
影响因子：
--
通讯作者：
Noguchi, E
中科院分区：
文献类型：
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作者：
Fukai, H;Ogasawara, Y;Noguchi, E
目的半胱氨酰白三烯受体2（CYSLTR 2）是半胱氨酰白三烯（CYSLT）的受体之一，它可引起哮喘患者支气管收缩、血管通透性增高和粘液高分泌。CYSLTR 1拮抗剂已被证明在治疗慢性哮喘中是有效的。CYSLTR 2位于距离D13 S153约300 kb处，据报道，D13 S153与几个人群中的哮喘有关。我们的特点是人类CYSLTR 2的基因组结构，确定了推定的主要启动子区域，并进行了相关的研究CYSLTR 2和asthma.Methods和结果的多态性，我们确定了3个新的外显子在5'非翻译区的CYSLTR 2的cDNA末端的快速扩增，并确定了8个新的多态性CYSLTR 2的直接测序。对137个日本哮喘家系的传递不平衡检验显示，-11220 A> C多态性与哮喘的发生相关（P = 0.0066）。此外，在假定的启动子区域的多态性引起不同的启动子activities in vitro.Conclusion我们的研究结果表明，CYSLTR 2是一个基因，有助于在日本人群中的哮喘易感性。(C)2004年利平科特威廉姆斯威尔金斯。
Objective Cysteinyl leukotriene receptor 2 (CYSLTR2) is one of the receptors for the cysteinyl leukotrienes (CYSLTs), which cause bronchoconstrictions, vascular hyperpermeability and mucus hypersecretion in asthmatic patients. CYSLTR1 antagonists have been shown to be effective in the treatment of chronic asthma. CYSLTR2 is located approximately 300 kb from D13S153, which is reportedly linked to asthma in several populations. We characterized the genomic structure of humans CYSLTR2, determined the putative major promoter region and conducted association studies pertaining to polymorphisms in CYSLTR2 and asthma.Methods and Results We identified three novel exons in the 5' untranslated region of CYSLTR2 by rapid amplification of cDNA ends and identified eight novel polymorphisms in CYSLTR2 by direct sequencing. A transmission disequilibrium test with 137 Japanese asthmatic families revealed that the -11220A > C polymorphism is associated with the development of asthma (P = 0.0066). In addition, a polymorphism in the putative promoter region caused different promoter activities in vitro.Conclusion Our results suggest that CYSLTR2 is one of the genes that contributes to susceptibility to asthma in the Japanese population. (C) 2004 Lippincott Williams Wilkins.