Ober C, Leavitt S A, Tsalenko A, Howard T D, Hoki D M, Daniel R, Newman D L, Wu X, Parry R, Lester L A, Solway J, Blumenthal M, King R A, Xu J, Meyers D A, Bleecker E R, Cox N J
Department of Human Genetics, University of Chicago, Chicago, IL 60636, USA.
Am J Hum Genet. 2000 Feb;66(2):517-26. doi: 10.1086/302781.
After a genomewide screen in the Hutterites was completed, the IL4RA gene was examined as the 16p-linked susceptibility locus for asthma and atopy. Seven known variants and one novel variant, representing all nonsynonymous substitutions in the mature protein, were examined in the Hutterites; on the basis of studies in the Hutterites, outbred white, black, and Hispanic families were genotyped for selected markers. All population samples showed evidence of association to atopy or to asthma (P values.039-.0044 for atopy and. 029-.0000061 for asthma), but the alleles or haplotypes showing the strongest evidence differed between the groups. Overall, these data suggest that the IL4RA gene is an atopy- and asthma-susceptibility locus but that variation outside the coding region of the gene influences susceptibility.
在哈特派人群中完成全基因组筛查后,对IL4RA基因作为与哮喘和特应性相关的16p连锁易感基因座进行了研究。在哈特派人群中检测了7个已知变异和1个新变异,这些变异代表了成熟蛋白中的所有非同义替换;基于对哈特派人群的研究,对非近亲繁殖的白人、黑人及西班牙裔家庭进行了选定标记的基因分型。所有人群样本均显示出与特应性或哮喘相关的证据(特应性的P值为0.039 - 0.0044,哮喘的P值为0.029 - 0.0000061),但显示出最强证据的等位基因或单倍型在不同组之间存在差异。总体而言,这些数据表明IL4RA基因是一个特应性和哮喘易感基因座,但该基因编码区以外的变异会影响易感性。