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

Carole Ober, Stephanie A. Leavitt, Anya Tsalenko, Timothy D. Howard, Danessa M. Hoki, Rajeev Daniel, Dina L. Newman, Xiaodong Wu, Rodney Parry, Lucille A. Lester, Julian Solway, Malcolm Blumenthal, Richard A. King, Jianfeng Xu, Deborah A. Meyers, Eugene R. Bleecker, Nancy J. Cox

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234 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)517-526
Number of pages10
JournalAmerican Journal of Human Genetics
Volume66
Issue number2
DOIs
StatePublished - 2000

Bibliographical note

Funding Information:
The authors acknowledge the other members of the CSGA, for comments; Carsten Schou (ALK Laboratories, Denmark), for providing skin-testing extracts; Klaus Deichmann, for helpful discussions; and James Fryer and Marsha Brott, for technical support. This work was supported by NIH grants HL49596, HL56399, and HL49602.

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