| IL4 in the 5q31 context: association studies of type 1 diabetes and rheumatoid arthritis in the Spanish population. | |
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MedLine Citation:
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PMID: 18064451 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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IL4, the gene coding the prototypic Th2 cytokine, has been frequently studied in the context of several inflammatory conditions, but conclusive results have not been obtained. This gene is located in the 5q31-33 complex genetic region, which shows some susceptibility factors to type 1 diabetes (T1D) and rheumatoid arthritis (RA) among other inflammatory conditions. Our aim was to assess the involvement on T1D and RA of IL4 polymorphisms considered individually and in combination with other polymorphisms in 5q31-33, specifically in the OCTN locus, where the L503F polymorphism has been associated with Crohn's disease and other Th1 diseases. We performed a case-control study including 316 T1D patients, 599 RA patients and 540 healthy controls, all of them corresponding to white Spanish individuals. The IL4 single-nucleotide polymorphisms (SNPs) -590C/T (rs2243250) and the OCTN1 exonic SNP L503F (rs1050152) were analysed in all samples. Frequency comparisons of -590C/T and stratified analysis including both cited SNPs were performed using chi-square tests. The -590C/T IL4 SNP was not found associated with T1D or RA when individual analyses were performed. However, a significant association with T1D emerged after stratification by L503F [p=0.02, odds ratio=1.95, 95% CI=1.07-3.55]. The location of the IL4 gene in the complex 5q31-33 genetic region, which contains many genes involved in immunological responses and presents linkage disequilibrium extended along many kilobases, makes necessary to interpret cautiously the previous IL4-association studies. |
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Authors:
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Concepción Nuñez; Jose Luis Santiago; Jezabel Varadé; Hermenegildo de la Calle; M Angeles Figueredo; Benjamín Fernandez-Gutierrez; Emilio G de la Concha; Elena Urcelay; Alfonso Martínez |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2007-12-07 |
Journal Detail:
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Title: Immunogenetics Volume: 60 ISSN: 0093-7711 ISO Abbreviation: Immunogenetics Publication Date: 2008 Jan |
Date Detail:
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Created Date: 2008-01-18 Completed Date: 2008-04-15 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0420404 Medline TA: Immunogenetics Country: United States |
Other Details:
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Languages: eng Pagination: 19-23 Citation Subset: IM |
Affiliation:
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Clinical Immunology Department, Hospital Clínico San Carlos, 28040 Madrid, Spain. conchita.npardo@gmail.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Arthritis, Rheumatoid
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genetics*,
immunology*,
metabolism Case-Control Studies Chromosomes, Human, Pair 5 / genetics*, immunology Cohort Studies Diabetes Mellitus, Type 1 / genetics*, immunology*, metabolism Female Genetic Predisposition to Disease* Humans Interleukin-4 / genetics* Linkage Disequilibrium / genetics Male Middle Aged Organic Cation Transport Proteins / genetics Polymorphism, Single Nucleotide / immunology Spain |
| Chemical | |
Reg. No./Substance:
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0/Organic Cation Transport Proteins; 0/SLC22A5 protein, human; 207137-56-2/Interleukin-4 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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