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

doi:10.1007/s10038-006-0102-5

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

Faculty of Medical Sciences

Research output: Contribution to journal › Article › peer-review

29 Citations (Scopus)

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; 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 language	English
Pages (from-to)	220-229
Number of pages	10
Journal	Journal of Human Genetics
Volume	52
Issue number	3
DOIs	https://doi.org/10.1007/s10038-006-0102-5
Publication status	Published - Mar 2007

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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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. (2007). A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction. Journal of Human Genetics, 52(3), 220-229. https://doi.org/10.1007/s10038-006-0102-5

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 2007, 'A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction', Journal of Human Genetics, vol. 52, no. 3, pp. 220-229. https://doi.org/10.1007/s10038-006-0102-5

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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; 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.",

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

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doi = "10.1007/s10038-006-0102-5",

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AU - Ebana, Yusuke

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AU - Sato, Hiroshi

AU - Iida, Aritoshi

AU - Lwin, Htay

AU - Saito, Susumu

AU - Mizuno, Hiroya

AU - Takahashi, Atsushi

AU - Nakamura, Takahiro

AU - Miyamoto, Yoshinari

AU - Ikegawa, Shiro

AU - Odashiro, Keita

AU - Nobuyoshi, Masakiyo

AU - Kamatani, Naoyuki

AU - Hori, Masatsugu

AU - Isobe, Mitsuaki

AU - Nakamura, Yusuke

AU - Tanaka, Toshihiro

PY - 2007/3

Y1 - 2007/3

N2 - 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.

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

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