African Americans with asthma: genetic insights.

African Americans with asthma: genetic insights.
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DOI:
10.1513/pats.200607-146jg
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发表时间:
2007-01-01
期刊:
Proceedings of the American Thoracic Society
影响因子:
--
通讯作者:
Dunston, Georgia M
Dunston, Georgia M
中科院分区:
其他
文献类型:
--
作者:
Barnes, Kathleen C;Grant, Audrey V;Dunston, Georgia M

文献摘要

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遗传因素强烈影响哮喘易感性及其相关性状,这一点已得到充分证实。目前尚不清楚遗传变异在多大程度上导致了哮喘发病率和死亡率的种族差异。非洲裔哮喘患者比欧洲裔哮喘患者有更严重的哮喘,更高的IgE水平,更高程度的类固醇依赖性和更严重的临床症状,但相对较少的研究集中在这个特别脆弱的种族群体。其他少数民族也存在类似的代表性不足,包括西班牙裔。在这篇综述中,总结了非洲裔人群中的连锁和关联研究,并讨论了连锁不平衡在解剖哮喘等复杂性状中的作用。考虑最近混合人群中人群分层的影响(即,欧洲人、非洲人)在关注非洲血统群体的遗传关联研究中至关重要。随着国际HapMap项目的最新更新,非洲裔美国人单倍型标记单核苷酸多态性(htSNP)的有效选择已经加速了从一个人群中选择htSNP代表其他大陆群体(例如,(非洲)已被证实。全基因组关联研究、混合图谱和系统发育分析等前沿方法为剖析非洲裔人群哮喘的遗传基础提供了新的机会。
It has been well established that genetic factors strongly affect susceptibility to asthma and its associated traits. It is less clear to what extent genetic variation contributes to the ethnic disparities observed for asthma morbidity and mortality. Individuals of African descent with asthma have more severe asthma, higher IgE levels, a higher degree of steroid dependency, and more severe clinical symptoms than individuals of European descent with asthma but relatively few studies have focused on this particularly vulnerable ethnic group. Similar underrepresentation exists for other minorities, including Hispanics. In this review, a summary of linkage and association studies in populations of African descent is presented, and the role of linkage disequilibrium in the dissection of a complex trait such as asthma is discussed. Consideration for the impact of population stratification in recently admixed populations (i.e., European, African) is essential in genetic association studies focusing on African ancestry groups. With the most recent update on the International HapMap Project, efficient selection of haplotype tagging single nucleotide polymorphisms (htSNPs) for African Americans has accelerated and efficiency of htSNPs chosen from one population to represent other continental groups (e.g., African) has been demonstrated. Cutting-edge approaches, such as genomewide association studies, admixture mapping, and phylogenetic analyses, offer new opportunities for dissecting the genetic basis for asthma in populations of African descent.