Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Journal of human genetics, 2007-03, Vol.52 (3), p.220-229

Ort / Verlag

England: Nature Publishing Group

Erscheinungsjahr

2007

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.