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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2006-11-22
pubmed:abstractText
Through a large-scale case-control association study using 52,608 haplotype-based single nucleotide polymorphism (SNP) markers, we identified a susceptible locus for myocardial infarction (MI) on chromosome 22q12.1. Following linkage disequilibrium (LD) mapping, haplotype analyses revealed that six SNPs in this locus, all of which were in complete LD, showed markedly significant association with MI (chi2=25.27, P=0.0000005; comparison of allele frequency, 3,435 affected individuals versus 3,774 controls, in the case of intron 1 5,338 C>T; rs2331291). Within this locus, we isolated a complete cDNA of a novel gene, designated myocardial infarction associated transcript (MIAT). MIAT has five exons, and in vitro translation assay showed that MIAT did not encode any translational product, indicating that this is likely to be a functional RNA. In vitro functional analyses revealed that the minor variant of one SNP in exon 5 increased transcriptional level of the novel gene. Moreover, unidentified nuclear protein(s) bound more intensely to risk allele than non-risk allele. These results indicate that the altered expression of MIAT by the SNP may play some role in the pathogenesis of MI.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1434-5161
pubmed:author
pubmed:issnType
Print
pubmed:volume
51
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1087-99
pubmed:dateRevised
2011-10-7
pubmed:meshHeading
pubmed-meshheading:17066261-Alleles, pubmed-meshheading:17066261-Case-Control Studies, pubmed-meshheading:17066261-Chromosomes, Human, Pair 22, pubmed-meshheading:17066261-Electrophoretic Mobility Shift Assay, pubmed-meshheading:17066261-Genetic Markers, pubmed-meshheading:17066261-Genetic Predisposition to Disease, pubmed-meshheading:17066261-Genetic Variation, pubmed-meshheading:17066261-Haplotypes, pubmed-meshheading:17066261-Humans, pubmed-meshheading:17066261-Linkage Disequilibrium, pubmed-meshheading:17066261-Models, Genetic, pubmed-meshheading:17066261-Myocardial Infarction, pubmed-meshheading:17066261-Polymorphism, Single Nucleotide, pubmed-meshheading:17066261-RNA, Untranslated, pubmed-meshheading:17066261-RNA Stability, pubmed-meshheading:17066261-Risk Factors, pubmed-meshheading:17066261-Transcription, Genetic
pubmed:year
2006
pubmed:articleTitle
Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction.
pubmed:affiliation
Laboratory for Cardiovascular Diseases, SNP Research Center, The Institute of Physical and Chemical Research (RIKEN), 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't