論文 - 詳細
| 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 |
| オルトメトリクス指標 |
オルトメトリクス指標項目
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| 各媒体での言及数の合計 | 0 |
| リソース情報 | |
| ヒト・動物細胞 | Jurkat(RCB0806) Hep G2 |