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

doi:10.1086/302781

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

Research output: Contribution to journal › Article › peer-review

246 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 language	English (US)
Pages (from-to)	517-526
Number of pages	10
Journal	American Journal of Human Genetics
Volume	66
Issue number	2
DOIs	https://doi.org/10.1086/302781
State	Published - 2000
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1086/302781

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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. (2000). Variation in the interleukin 4-receptor α gene confers susceptibility to asthma and atopy in ethnically diverse populations. American Journal of Human Genetics, 66(2), 517-526. https://doi.org/10.1086/302781

Ober, C, Leavitt, SA, Tsalenko, A, Howard, TD, Hoki, DM, Daniel, R, Newman, DL, Wu, X, Parry, R, Lester, LA, Solway, J, Blumenthal, M, King, RA, Xu, J, Meyers, DA , Bleecker, ER & Cox, NJ 2000, 'Variation in the interleukin 4-receptor α gene confers susceptibility to asthma and atopy in ethnically diverse populations', American Journal of Human Genetics, vol. 66, no. 2, pp. 517-526. https://doi.org/10.1086/302781

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

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.",

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

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. ",

year = "2000",

doi = "10.1086/302781",

language = "English (US)",

volume = "66",

pages = "517--526",

journal = "American Journal of Human Genetics",

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AU - Ober, Carole

AU - Leavitt, Stephanie A.

AU - Tsalenko, Anya

AU - Howard, Timothy D.

AU - Hoki, Danessa M.

AU - Daniel, Rajeev

AU - Newman, Dina L.

AU - Wu, Xiaodong

AU - Parry, Rodney

AU - Lester, Lucille A.

AU - Solway, Julian

AU - Blumenthal, Malcolm

AU - King, Richard A.

AU - Xu, Jianfeng

AU - Meyers, Deborah A.

AU - Bleecker, Eugene R.

AU - Cox, Nancy J.

N1 - 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.

PY - 2000

Y1 - 2000

N2 - 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.

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

Abstract

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