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美国拉丁裔人群的遗传学与哮喘易感性

Genetics and asthma disease susceptibility in the US Latino population.

作者信息

Reibman Joan, Liu Mengling

机构信息

New York University School of Medicine, New York, NY, USA.

出版信息

Mt Sinai J Med. 2010 Mar-Apr;77(2):140-8. doi: 10.1002/msj.20171.

Abstract

The US Latino population is heterogeneous with diversity in environmental exposures and socioeconomic status. Moreover, the US Hispanic population derives from numerous countries previously under Spanish rule, and many Hispanics have complex proportions of European, Native American, and African ancestry. Disparities in asthma severity and control are due to complex interactions between environmental exposures, socioeconomic factors, and genetic variations. In addition, diseases within the Latino community may also differ by country of origin. Although US Census data show low asthma rates in the Hispanic population as a whole, there is a lot of variability in the prevalence and morbidity of asthma, with a prevalence of 5.0% in Mexican Americans versus 17.0% in Puerto Ricans. The diversity and population admixture make the study of the genetics of asthma complex in Latino populations. However, an understanding of the genetics of asthma in all populations, including the Latino population, can enhance risk identification, help us to target pharmacological therapy, and guide environmental regulations, all of which can promote a reduction in health disparities. The inclusion of markers of ancestral diversity and the incorporation of techniques to adjust for stratification now make these studies feasible in complex populations, including the Latino population. To date, studies using linkage analyses, genome-wide associations, or candidate gene analyses have identified an association of asthma or asthma-related phenotypes with candidate genes, including interleukin 13, beta-2 adrenergic receptor, a disintegrin and metalloproteinase 33, orosomucoid 1-like 3, and thymic stromal lymphopoietin. As reviewed here, although these genes have been identified in diverse populations, limited studies have been performed in Latino populations, and they have had variable replication. There is a need for the development of registries with well-phenotyped pediatric and adult Latino populations and subgroups for inclusion in the rapidly expanding field of genetic studies, and these studies need to be used to reduce health disparities.

摘要

美国拉丁裔人口具有异质性,在环境暴露和社会经济地位方面存在多样性。此外,美国西班牙裔人口来自许多以前受西班牙统治的国家,许多西班牙裔具有复杂比例的欧洲、美洲原住民和非洲血统。哮喘严重程度和控制方面的差异是由于环境暴露、社会经济因素和基因变异之间的复杂相互作用。此外,拉丁裔社区内的疾病也可能因原籍国而异。尽管美国人口普查数据显示西班牙裔人口整体哮喘发病率较低,但哮喘的患病率和发病率存在很大差异,墨西哥裔美国人的患病率为5.0%,而波多黎各人的患病率为17.0%。这种多样性和人群混合使得在拉丁裔人群中研究哮喘遗传学变得复杂。然而,了解所有人群(包括拉丁裔人群)的哮喘遗传学可以增强风险识别,帮助我们确定药物治疗目标,并指导环境法规,所有这些都可以促进健康差距的缩小。纳入祖先多样性标记并采用调整分层的技术现在使这些研究在包括拉丁裔人群在内的复杂人群中可行。迄今为止,使用连锁分析、全基因组关联或候选基因分析的研究已经确定哮喘或哮喘相关表型与候选基因之间存在关联,这些候选基因包括白细胞介素13、β-2肾上腺素能受体、解聚素和金属蛋白酶33、类orosomucoid 1样3以及胸腺基质淋巴细胞生成素。如本文所述,尽管这些基因已在不同人群中得到鉴定,但在拉丁裔人群中进行的研究有限,且复制情况不一。需要建立具有良好表型的拉丁裔儿童和成人人群及亚组的登记册,以纳入迅速扩展的基因研究领域,并且需要利用这些研究来减少健康差距。

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