Abstract
Myocardial infarction (MI) occurs as the result of complex interactions of multiple genetic and environmental factors. By conducting a genome wide association study in a Japanese population using 210 785 single nucleotide polymorphism (SNP) markers, we identified a novel susceptible locus for MI on chromosome 5p15.3. An SNP (rs11748327) in this locus showed significant association in several independent cohorts (combined P=5.3 × 10−13, odds ratio=0.80, comparison of allele frequency). Association study using tag SNPs in the same linkage disequilibrium block revealed that two additional SNPs (rs490556 and rs521660) conferred risk of MI. These findings indicate that the SNPs on chromosome 5p15.3 are novel protective genetic factors against MI.
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Acknowledgements
We thank Maki Takahashi, Mayumi Yoshii, Saori Kawakami, Rumiko Oishi, Makiko Matsuda, Taeko Nakajima and Michiko Nakamura for their assistance. We also thank all the members of OACIS, the Rotary Club of Osaka-Midosuji District 2660 Rotary International and BioBank Japan for their contribution to the completion of our study. This work was conducted as a part of the BioBank Japan Project that was supported by the Ministry of Education, Culture, Sports, Sciences and Technology of the Japanese government. This work was also supported in part by grants from the Takeda science foundation, the Uehara science foundation, the Naito foundation, the Mitsubishi foundation, the Tokyo Biochemical Research foundation and NHRI-Ex96-9607PI (Taiwan).
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Aoki, A., Ozaki, K., Sato, H. et al. SNPs on chromosome 5p15.3 associated with myocardial infarction in Japanese population. J Hum Genet 56, 47–51 (2011). https://doi.org/10.1038/jhg.2010.141
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DOI: https://doi.org/10.1038/jhg.2010.141
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