| Literature DB >> 17211523 |
Yusuke Ebana1,2, Kouichi Ozaki1, Katsumi Inoue3, Hiroshi Sato4, Aritoshi Iida5, Htay Lwin1, Susumu Saito5, Hiroya Mizuno4, Atsushi Takahashi6, Takahiro Nakamura6, Yoshinari Miyamoto7, Shiro Ikegawa7, Keita Odashiro3, Masakiyo Nobuyoshi3, Naoyuki Kamatani6, Masatsugu Hori4, Mitsuaki Isobe2, Yusuke Nakamura5, Toshihiro Tanaka8.
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.Entities:
Mesh：
Substances：
Year: 2007 PMID： 17211523 DOI： 10.1007/s10038-006-0102-5
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172