A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction

Yusuke Ebana, Kouichi Ozaki, Katsumi Inoue, Hiroshi Sato, Aritoshi Iida, Htay Lwin, Susumu Saito, Hiroya Mizuno, Atsushi Takahashi, Takahiro Nakamura, Yoshinari Miyamoto, Shiro Ikegawa, Keita Odashiro, Masakiyo Nobuyoshi, Naoyuki Kamatani, Masatsugu Hori, Mitsuaki Isobe, Yusuke Nakamura, Toshihiro Tanaka

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29 Citations (Scopus)


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; χ 2 = 24.88, P = 6.1 × 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.

Original languageEnglish
Pages (from-to)220-229
Number of pages10
JournalJournal of Human Genetics
Issue number3
Publication statusPublished - Mar 2007

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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