RRC ID 10879
著者 Ebana Y, Ozaki K, Inoue K, Sato H, Iida A, Lwin H, Saito S, Mizuno H, Takahashi A, Nakamura T, Miyamoto Y, Ikegawa S, Odashiro K, Nobuyoshi M, Kamatani N, Hori M, Isobe M, Nakamura Y, Tanaka T.
タイトル A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction.
ジャーナル J Hum Genet
Abstract Myocardial infarction (MI) results from complex interactions of multiple genetic and environmental factors. To disclose genetic backgrounds of MI, we performed a large-scale, case-control association study using 52,608 gene-based single-nucleotide polymorphism (SNP) markers, and identified a candidate SNP located on chromosome 3p21.2-p21.1. Subsequent linkage-disequilibrium mapping indicated very significant association between MI and a SNP in exon 2 of the inter-alpha (globulin) inhibitor 3 gene (ITIH3; chi(2) = 24.88, P = 6.1 x 10(-7), 3,353 affected individuals versus 3,807 controls). In vitro functional analyses showed that this SNP enhanced the transcriptional level of the ITIH3 gene. Furthermore, we found expression of the ITIH3 protein in the vascular smooth muscle cells and macrophages in the human atherosclerotic lesions, suggesting ITIH3 SNP to be a novel genetic risk factor of MI.
巻・号 52(3)
ページ 220-229
公開日 2007-1-1
DOI 10.1007/s10038-006-0102-5
PII 10.1007/s10038-006-0102-5
PMID 17211523
MeSH Alpha-Globulins / genetics* Alpha-Globulins / metabolism Atherosclerosis / pathology Case-Control Studies Exons / genetics Genetic Predisposition to Disease* Genetic Testing Haplotypes Humans Introns / genetics Myocardial Infarction / genetics* Polymorphism, Single Nucleotide / genetics*
IF 2.831
引用数 18
WOS 分野 GENETICS & HEREDITY
リソース情報
ヒト・動物細胞 Jurkat(RCB0806) Hep G2