Variation in the interleukin 4-receptor α gene confers susceptibility to asthma and atopy in ethnically diverse populations

被引：211
作者：
Ober, C [1 ]
Leavitt, SA
Tsalenko, A
Howard, TD
Hoki, DM
Daniel, R
Newman, DL
Wu, XD
Parry, R
Lester, LA
Solway, J
Blumenthal, M
King, RA
Xu, JF
Meyers, DA
Bleecker, ER
Cox, NJ
机构：
[1] Univ Chicago, Dept Human Genet, Chicago, IL 60636 USA
[2] Univ Chicago, Dept Pediat, Chicago, IL 60637 USA
[3] Univ Chicago, Dept Med, Chicago, IL 60637 USA
[4] Univ Maryland, Genet Asthma Ctr, Baltimore, MD 21201 USA
[5] Univ S Dakota, Dept Med, Sioux Falls, SD USA
[6] Univ Minnesota, Dept Med, Minneapolis, MN 55455 USA
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 66卷 / 02期
关键词：
D O I：
10.1086/302781
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
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收藏
页码：517 / 526
页数：10
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