Variation in the Interleukin 4–Receptor α Gene Confers Susceptibility to Asthma and Atopy in Ethnically Diverse Populations

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...

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Published inAmerican journal of human genetics Vol. 66; no. 2; pp. 517 - 526
Main Authors Ober, Carole, Leavitt, Stephanie A., Tsalenko, Anya, Howard, Timothy D., Hoki, Danessa M., Daniel, Rajeev, Newman, Dina L., Wu, Xiaodong, Parry, Rodney, Lester, Lucille A., Solway, Julian, Blumenthal, Malcolm, King, Richard A., Xu, Jianfeng, Meyers, Deborah A., Bleecker, Eugene R., Cox, Nancy J.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.02.2000
American Society of Human Genetics|1
Subjects
Alleles
asthma
Asthma - genetics
atopy
Child
Christianity
Chromosomes, Human, Pair 16 - genetics
complex traits
DNA Mutational Analysis
Ethnicity - genetics
Family Health
Female
Gene Frequency - genetics
Genetic Predisposition to Disease - genetics
Genetic Variation - genetics
Haplotypes - genetics
Humans
Hypersensitivity, Immediate - genetics
linkage disequilibrium
Linkage Disequilibrium - genetics
Male
Molecular Sequence Data
Phenotype
Polymorphism, Single Nucleotide - genetics
Receptors, Interleukin-4 - genetics
SNPs
United States
United States
atopy
SNPs
complex traits
asthma
linkage disequilibrium
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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.
AbstractList 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.
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.
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 Howard, Timothy D.
Solway, Julian
Ober, Carole
Meyers, Deborah A.
Newman, Dina L.
Wu, Xiaodong
King, Richard A.
Parry, Rodney
Bleecker, Eugene R.
Leavitt, Stephanie A.
Hoki, Danessa M.
Lester, Lucille A.
Daniel, Rajeev
Tsalenko, Anya
Blumenthal, Malcolm
Xu, Jianfeng
Cox, Nancy J.
AuthorAffiliation Departments of 1 Human Genetics, 2 Pediatrics, and 3 Medicine, University of Chicago, Chicago; 4 Genetics of Asthma Center, University of Maryland, Baltimore; 5 Department of Medicine, University of South Dakota, Sioux Falls; and 6 Department of Medicine, University of Minnesota, Minneapolis
AuthorAffiliation_xml – name: Departments of 1 Human Genetics, 2 Pediatrics, and 3 Medicine, University of Chicago, Chicago; 4 Genetics of Asthma Center, University of Maryland, Baltimore; 5 Department of Medicine, University of South Dakota, Sioux Falls; and 6 Department of Medicine, University of Minnesota, Minneapolis
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Issue 2
Keywords atopy
SNPs
complex traits
asthma
linkage disequilibrium
Language English
License http://www.elsevier.com/open-access/userlicense/1.0
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PublicationDate 2000-02-01
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  year: 2000
  text: 2000-02-01
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PublicationTitle American journal of human genetics
PublicationTitleAlternate Am J Hum Genet
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Publisher Elsevier Inc
American Society of Human Genetics|1
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SSID ssj0011803
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Snippet 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...
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...
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...
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SourceType Open Access Repository
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StartPage 517
SubjectTerms Alleles
asthma
Asthma - genetics
atopy
Child
Christianity
Chromosomes, Human, Pair 16 - genetics
complex traits
DNA Mutational Analysis
Ethnicity - genetics
Family Health
Female
Gene Frequency - genetics
Genetic Predisposition to Disease - genetics
Genetic Variation - genetics
Haplotypes - genetics
Humans
Hypersensitivity, Immediate - genetics
linkage disequilibrium
Linkage Disequilibrium - genetics
Male
Molecular Sequence Data
Phenotype
Polymorphism, Single Nucleotide - genetics
Receptors, Interleukin-4 - genetics
SNPs
United States
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Title Variation in the Interleukin 4–Receptor α Gene Confers Susceptibility to Asthma and Atopy in Ethnically Diverse Populations
URI https://dx.doi.org/10.1086/302781
https://www.ncbi.nlm.nih.gov/pubmed/10677312
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https://pubmed.ncbi.nlm.nih.gov/PMC1288105
Volume 66
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