Premium
New polymorphisms in the interleukin‐10 gene – relationships to myocardial infarction
Author(s) -
Donger C.,
Georges JL.,
Nicaud V.,
Morrison C.,
Evans A.,
Kee F.,
Arveiler D.,
Tiret L.,
Cambien F.
Publication year - 2001
Publication title -
european journal of clinical investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.164
H-Index - 107
eISSN - 1365-2362
pISSN - 0014-2972
DOI - 10.1046/j.1365-2362.2001.00754.x
Subject(s) - genetics , genotype , linkage disequilibrium , biology , allele , exon , gene , allele frequency , myocardial infarction , population , coding region , microbiology and biotechnology , haplotype , medicine , environmental health
Background Interleukin‐10 (IL‐10) is a cytokine with anti‐inflammatory and B‐cell‐stimulating activity. IL‐10 is expressed in human atherosclerotic plaques and recent studies have shown the involvement of IL‐10 in the atherosclerotic process. Therefore, we hypothesized that polymorphisms in the IL‐10 gene might be associated with a predisposition to coronary heart disease. Materials and methods To identify new polymorphisms in the human IL‐10 gene, the entire coding sequence and the 3′ flanking sequence of the gene were screened by polymerase chain reaction–single strand conformation polymorphism (PCR‐SSCR ) followed by sequencing. The polymorphisms identified, and three others which have been previously described in the promoter region of the IL‐10 gene (G‐1082A, C‐819T, C‐592A), were then investigated in the ECTIM Study, a large population‐based case–control study of myocardial infarction. Results Four new polymorphisms were identified: one in exon 1 (G+78/ex1A), which predicts a Glycine to Arginine change at position 15 in the putative signal peptide of the protein, two in the intron 3 (C+19/in3T, T+953/in3C) and one in the 3′ flanking region (C+117T). All the IL‐10 polymorphisms were in complete or nearly complete pairwise linkage disequilibrium. No case–control difference was found in genotype or allele frequencies for any of the polymorphisms. Conclusions Our results suggest that IL‐10 polymorphisms are not associated with an increased risk of myocardial infarction.