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在整个儿童期、青少年期和成年早期,遗传因素对哮喘发展的影响存在差异。

Variations in genetic influences on the development of asthma throughout childhood, adolescence and early adult life.

作者信息

Le Souëf Peter N

机构信息

School of Paediatrics and Child Health, University of Western Australia, Perth, Australia.

出版信息

Curr Opin Allergy Clin Immunol. 2006 Oct;6(5):317-22. doi: 10.1097/01.all.0000244790.18486.be.

Abstract

PURPOSE OF REVIEW

Asthma is likely to be due to many aetiological factors, the effect of each varying considerably with age. Now that there are well established candidate genes for asthma, using genetics to examine age-related susceptibility to asthma offers a new approach to understanding the basic underlying mechanisms.

RECENT FINDINGS

Since few long-term, longitudinal asthma studies exist, opportunities to examine age-related genetic susceptibility have been limited, but have produced some specific findings. The CCR5Delta32 polymorphism renders the chemokine receptor nonfunctional and is associated with reduced asthma susceptibility in children but not adults. In CD14 C-159T, the -159C allele has been associated with increased atopy in mid-childhood, but not in young adults. IL-12beta is a promoter polymorphism associated with reduced lung function in girls but not boys in mid-childhood only. Regarding the beta(2)adrenoceptor, results from three studies suggest that Arg16 can be associated with impaired airway function in infancy and Gly16 with asthma and wheeze in mid-childhood.

SUMMARY

Age-related genetic susceptibility studies are likely to make a major contribution to understanding basic mechanisms in asthma, but the limited number of suitable cohorts has meant that to date few studies have been reported.

摘要

综述目的

哮喘可能由多种病因引起,每种病因的影响随年龄有很大差异。既然已有公认的哮喘候选基因,利用遗传学研究与年龄相关的哮喘易感性为理解其基本潜在机制提供了一种新方法。

最新发现

由于长期纵向哮喘研究较少,研究与年龄相关的遗传易感性的机会有限,但已产生了一些具体发现。CCR5Delta32多态性使趋化因子受体失去功能,与儿童而非成人的哮喘易感性降低有关。在CD14 C-159T中,-159C等位基因与儿童中期而非青年期的特应性增加有关。IL-12β是一种启动子多态性,仅与儿童中期女孩而非男孩的肺功能降低有关。关于β2肾上腺素能受体,三项研究结果表明,Arg16可能与婴儿期气道功能受损有关,而Gly16与儿童中期哮喘和喘息有关。

总结

与年龄相关的遗传易感性研究可能对理解哮喘的基本机制做出重大贡献,但合适队列数量有限意味着迄今为止报道的研究较少。

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