Document Detail

IL4 in the 5q31 context: association studies of type 1 diabetes and rheumatoid arthritis in the Spanish population.
MedLine Citation:
PMID:  18064451     Owner:  NLM     Status:  MEDLINE    
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.
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:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-12-07
Journal Detail:
Title:  Immunogenetics     Volume:  60     ISSN:  0093-7711     ISO Abbreviation:  Immunogenetics     Publication Date:  2008 Jan 
Date Detail:
Created Date:  2008-01-18     Completed Date:  2008-04-15     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0420404     Medline TA:  Immunogenetics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  19-23     Citation Subset:  IM    
Clinical Immunology Department, Hospital Clínico San Carlos, 28040 Madrid, Spain.
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MeSH Terms
Arthritis, Rheumatoid / genetics*,  immunology*,  metabolism
Case-Control Studies
Chromosomes, Human, Pair 5 / genetics*,  immunology
Cohort Studies
Diabetes Mellitus, Type 1 / genetics*,  immunology*,  metabolism
Genetic Predisposition to Disease*
Interleukin-4 / genetics*
Linkage Disequilibrium / genetics
Middle Aged
Organic Cation Transport Proteins / genetics
Polymorphism, Single Nucleotide / immunology
Reg. No./Substance:
0/Organic Cation Transport Proteins; 0/SLC22A5 protein, human; 207137-56-2/Interleukin-4

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