Genomewide screen and identification of gene-gene interactions for asthma-susceptibility loci in three US populations: Collaborative study on the genetics of asthma
Genomewide screen and identification of gene-gene interactions for asthma-susceptibility loci in three US populations: Collaborative study on the genetics of asthma
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DOI：
10.1086/320589
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发表时间：
2001-06-01
影响因子：
9.8
通讯作者：
Cox, NJ
中科院分区：
文献类型：
--
作者：
Xu, JF;Meyers, DA;Cox, NJ
在哮喘遗传学合作研究（CSGA）中，全基因组筛选以寻找哮喘易感基因座，分两个阶段进行，包括来自三个美国人群的266个家庭（199个核心和67个扩展谱系）：非洲裔美国人，欧洲裔美国人和西班牙裔。通过使用几种有助于鉴定多个疾病位点的分析方法，在多个染色体区域观察到与哮喘表型相关的证据。种族特异性分析，允许不同频率的哮喘易感基因在每个种族的人口，提供了最有力的证据，在6p21在欧洲裔美国人的人口，在11q21在非洲裔美国人的人口，在1p32在西班牙裔人口的联系。条件分析和受影响同胞对双位点分析都进一步证明了在5q31、8p23、12q22和15q13的连锁。这些区域中的几个已经在哮喘和相关表型的其他全基因组筛选和连锁或关联研究中观察到。这些结果被用来开发一个概念模型，描绘哮喘易感基因位点和它们的遗传相互作用，这提供了一个有前途的基础，启动精细定位研究，并最终，基因识别。
The genomewide screen to search for asthma-susceptibility loci, in the Collaborative Study on the Genetics of Asthma (CSGA), has been conducted in two stages and includes 266 families (199 nuclear and 67 extended pedigrees) from three U.S. populations: African American, European American, and Hispanic. Evidence for linkage with the asthma phenotype was observed for multiple chromosomal regions, through use of several analytical approaches that facilitated the identification of multiple disease loci. Ethnicity-specific analyses, which allowed for different frequencies of asthma-susceptibility genes in each ethnic population, provided the strongest evidence for linkage at 6p21 in the European American population, at 11q21 in the African American population, and at 1p32 in the Hispanic population. Both the conditional analysis and the affected-sib-pair two-locus analysis provided further evidence for linkage, at 5q31, 8p23, 12q22, and 15q13. Several of these regions have been observed in other genomewide screens and linkage or association studies, for asthma and related phenotypes. These results were used to develop a conceptual model to delineate asthma-susceptibility loci and their genetic interactions, which provides a promising basis for initiation of fine-mapping studies and, ultimately, for gene identification.