Document Detail

Association and interaction of the IL4R, IL4, and IL13 loci with type 1 diabetes among Filipinos.
MedLine Citation:
PMID:  12748907     Owner:  NLM     Status:  MEDLINE    
In the search for genes involved in type 1 diabetes (T1D), other than the well-established risk alleles at the human leukocyte antigen loci, we have investigated the association and interaction of polymorphisms in genes involved in the IL4/IL13 pathway in a sample of 90 Filipino patients with T1D and 94 controls. Ten single-nucleotide polymorphisms (SNPs), including two promoter SNPs in the IL4R locus on chromosome 16p11, one promoter SNP in the IL4 locus on chromosome 5q31, and four SNPs--including two promoter SNPs--in the IL13 locus on chromosome 5q31 were examined for association, linkage disequilibrium, and interaction. We found that both individual SNPs (IL4R L389L; odds ratio [OR] 0.34; 95% confidence interval [CI] 0.17-0.67; P=.001) and specific haplotypes both in IL4R (OR 0.10; 95% CI 0-0.5; P=.001) and for the five linked IL4 and IL13 SNPs (OR 3.47; P=.004) were strongly associated with susceptibility to T1D. Since IL4 and IL13 both serve as ligands for a receptor composed, in part, of the IL4R alpha chain, we looked for potential epistasis between polymorphisms in the IL4R locus on chromosome 16p11 and the five SNPs in the IL4 and IL13 loci on chromosome 5q31 and found, through use of a logistic-regression model, significant gene-gene interactions (P=.045, corrected for multiple comparisons by permutation analysis). Our data suggest that the risk for T1D is determined, in part, by polymorphisms within the IL4R locus, including promoter and coding-sequence variants, and by specific combinations of genotypes at the IL4R and the IL4 and IL13 loci.
Teodorica L Bugawan; Daniel B Mirel; Ana M Valdes; Araceli Panelo; Paolo Pozzilli; Henry A Erlich
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.     Date:  2003-05-13
Journal Detail:
Title:  American journal of human genetics     Volume:  72     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2003 Jun 
Date Detail:
Created Date:  2003-05-15     Completed Date:  2003-07-22     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1505-14     Citation Subset:  IM    
Roche Molecular Systems, Alameda, CA 94501, USA.
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MeSH Terms
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 5
Cohort Studies
Diabetes Mellitus, Type 1 / genetics*,  immunology
Epistasis, Genetic*
Genetic Predisposition to Disease*
Genetic Variation
Interleukin-13 / genetics*
Interleukin-4 / genetics*
Linkage (Genetics)
Logistic Models
Polymorphism, Single Nucleotide*
Promoter Regions, Genetic
Receptors, Interleukin-4 / genetics*
Grant Support
Reg. No./Substance:
0/Interleukin-13; 0/Receptors, Interleukin-4; 207137-56-2/Interleukin-4
Comment In:
Am J Hum Genet. 2004 Mar;74(3):582-4; author reply 584-5   [PMID:  14973784 ]

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