Testing the possible negative association of type 1 diabetes and atopic disease by analysis of the interleukin 4 receptor gene View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2003-10-10

AUTHORS

L M Maier, R C J Twells, J M M Howson, A C Lam, D G Clayton, D J Smyth, D Savage, D Carson, C C Patterson, L J Smink, N M Walker, O S Burren, S Nutland, H Rance, E Tuomilehto-Wolf, J Tuomilehto, C Guja, C Ionescu-Tirgoviste, D E Undlien, K S Rønningen, F Cucca, J A Todd

ABSTRACT

Variations in the interleukin 4 receptor A (IL4RA) gene have been reported to be associated with atopy, asthma, and allergy, which may occur less frequently in subjects with type 1 diabetes (T1D). Since atopy shows a humoral immune reactivity pattern, and T1D results from a cellular (T lymphocyte) response, we hypothesised that alleles predisposing to atopy could be protective for T1D and transmitted less often than the expected 50% from heterozygous parents to offspring with T1D. We genotyped seven exonic single nucleotide polymorphisms (SNPs) and the –3223 C>T SNP in the putative promoter region of IL4RA in up to 3475 T1D families, including 1244 Finnish T1D families. Only the −3223 C>T SNP showed evidence of negative association (P=0.014). There was some evidence for an interaction between −3233 C>T and the T1D locus IDDM2 in the insulin gene region (P=0.001 in the combined and P=0.02 in the Finnish data set). We, therefore, cannot rule out a genetic effect of IL4RA in T1D, but it is not a major one. More... »

PAGES

469-475

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.gene.6364007

DOI

http://dx.doi.org/10.1038/sj.gene.6364007

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1024252407

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/14551599


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    "description": "Variations in the interleukin 4 receptor A (IL4RA) gene have been reported to be associated with atopy, asthma, and allergy, which may occur less frequently in subjects with type 1 diabetes (T1D). Since atopy shows a humoral immune reactivity pattern, and T1D results from a cellular (T lymphocyte) response, we hypothesised that alleles predisposing to atopy could be protective for T1D and transmitted less often than the expected 50% from heterozygous parents to offspring with T1D. We genotyped seven exonic single nucleotide polymorphisms (SNPs) and the \u20133223 C>T SNP in the putative promoter region of IL4RA in up to 3475 T1D families, including 1244 Finnish T1D families. Only the \u22123223 C>T SNP showed evidence of negative association (P=0.014). There was some evidence for an interaction between \u22123233 C>T and the T1D locus IDDM2 in the insulin gene region (P=0.001 in the combined and P=0.02 in the Finnish data set). We, therefore, cannot rule out a genetic effect of IL4RA in T1D, but it is not a major one.", 
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