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ischemic heart disease month download article/chapter ischemic heart diseases myocardial infarction human genetic background related subjects full article pdf privacy choices/manage cookies japanese population single-nucleotide polymorphisms thrombomodulin gene human genome center medical information science check access instant access scope submit manuscript osaka university school conditions privacy policy gene european economic area 4 kb intronic sequences accepting optional cookies allelic frequencies leiden mutation reported frequency article log journal finder publish 41 candidate genes candidate genes article cite japanese genomes japanese patients article ohnishi data support privacy policy 12% frequency personal data books a optional cookies manage preferences 5' flanking regions medical science nakamura department information subscription content similar content coding elements essential cookies cookies skip polymorphisms

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WebPage:
      mainEntity:
         headline:Identification of 187 single nucleotide polymorphisms (SNPs) among 41 candidate genes for ischemic heart disease in the Japanese population
         description: To investigate whether common variants in the human genetic background are associated with pathogenesis of ischemic heart diseases, we systematically surveyed 41 possible candidate genes for single-nucleotide polymorphisms (SNPs) by directly sequencing 96 independent alleles at each locus, derived from 48 unrelated Japanese patients with myocardial infarction, including 25.8 kb 5' flanking regions, 56.8 kb exonic and 35.4 kb intronic sequences, and 1.8 kb 3' flanking regions. In this genomic DNA of nearly 120 kb, we identified 187 SNPs: 55 in 5' flanking regions, seven in 5' untranslated regions (UTRs), 52 in coding elements, 64 in introns, eight in 3' UTRs, and one in a 3' flanking region. Among the 52 coding SNPs, 26 were non-synonymous changes. Allelic frequencies of some of the polymorphisms were significantly different from those reported in European populations. For example, the Q506R substitution in the coagulation factor V gene, the so-called "Leiden mutation", has a reported frequency of 2.3% in Europeans, but we detected the Leiden mutation in none of the Japanese genomes that we investigated. The allelic frequencies of the –33A>G SNP in the thrombomodulin gene were also very different; this allele occurred at a 12% frequency in the Japanese patients that we examined, although it had been detected in none of 82 Caucasians reported previously. These data support the hypothesis that some SNPs are specific to particular ethnic groups.
         datePublished:
         dateModified:
         pageStart:288
         pageEnd:292
         sameAs:https://doi.org/10.1007/s004390000247
         keywords:
            Myocardial Infarction
            Candidate Gene
            Allelic Frequency
            Ischemic Heart Disease
            Japanese Patient
            Human Genetics
            Molecular Medicine
            Gene Function
            Metabolic Diseases
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                     address:
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      headline:Identification of 187 single nucleotide polymorphisms (SNPs) among 41 candidate genes for ischemic heart disease in the Japanese population
      description: To investigate whether common variants in the human genetic background are associated with pathogenesis of ischemic heart diseases, we systematically surveyed 41 possible candidate genes for single-nucleotide polymorphisms (SNPs) by directly sequencing 96 independent alleles at each locus, derived from 48 unrelated Japanese patients with myocardial infarction, including 25.8 kb 5' flanking regions, 56.8 kb exonic and 35.4 kb intronic sequences, and 1.8 kb 3' flanking regions. In this genomic DNA of nearly 120 kb, we identified 187 SNPs: 55 in 5' flanking regions, seven in 5' untranslated regions (UTRs), 52 in coding elements, 64 in introns, eight in 3' UTRs, and one in a 3' flanking region. Among the 52 coding SNPs, 26 were non-synonymous changes. Allelic frequencies of some of the polymorphisms were significantly different from those reported in European populations. For example, the Q506R substitution in the coagulation factor V gene, the so-called "Leiden mutation", has a reported frequency of 2.3% in Europeans, but we detected the Leiden mutation in none of the Japanese genomes that we investigated. The allelic frequencies of the –33A>G SNP in the thrombomodulin gene were also very different; this allele occurred at a 12% frequency in the Japanese patients that we examined, although it had been detected in none of 82 Caucasians reported previously. These data support the hypothesis that some SNPs are specific to particular ethnic groups.
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      dateModified:
      pageStart:288
      pageEnd:292
      sameAs:https://doi.org/10.1007/s004390000247
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         Myocardial Infarction
         Candidate Gene
         Allelic Frequency
         Ischemic Heart Disease
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         Human Genetics
         Molecular Medicine
         Gene Function
         Metabolic Diseases
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            name:Y. Ohnishi
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                  name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan
                  address:
                     name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan,
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            name:S. Nagata
            affiliation:
                  name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan
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                  name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan
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                     name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan,
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            name:H. Sato
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               type:PostalAddress
            type:Organization
      name:R. Yamada
      affiliation:
            name:Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108–8639, Japan
            address:
               name:Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108–8639, Japan,
               type:PostalAddress
            type:Organization
      name:K. Suematsu
      affiliation:
            name:Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108–8639, Japan
            address:
               name:Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108–8639, Japan,
               type:PostalAddress
            type:Organization
      name:M. Minami
      affiliation:
            name:Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108–8639, Japan
            address:
               name:Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108–8639, Japan,
               type:PostalAddress
            type:Organization
      name:K. Fujii
      affiliation:
            name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan
            address:
               name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan,
               type:PostalAddress
            type:Organization
      name:N. Hoki
      affiliation:
            name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan
            address:
               name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan,
               type:PostalAddress
            type:Organization
      name:K. Kodama
      affiliation:
            name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan
            address:
               name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan,
               type:PostalAddress
            type:Organization
      name:S. Nagata
      affiliation:
            name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan
            address:
               name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan,
               type:PostalAddress
            type:Organization
      name:T. Hayashi
      affiliation:
            name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan
            address:
               name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan,
               type:PostalAddress
            type:Organization
      name:N. Kinoshita
      affiliation:
            name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan
            address:
               name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan,
               type:PostalAddress
            type:Organization
      name:H. Sato
      affiliation:
            name:Department of Internal Medicine and Therapeutics, Osaka University Graduate School of Medicine, Osaka, Japan
            address:
               name:Department of Internal Medicine and Therapeutics, Osaka University Graduate School of Medicine, Osaka, Japan,
               type:PostalAddress
            type:Organization
      name:H. Sato
      affiliation:
            name:Department of Internal Medicine and Therapeutics, Osaka University Graduate School of Medicine, Osaka, Japan
            address:
               name:Department of Internal Medicine and Therapeutics, Osaka University Graduate School of Medicine, Osaka, Japan,
               type:PostalAddress
            type:Organization
      name:T. Kuzuya
      affiliation:
            name:Department of Internal Medicine and Therapeutics, Osaka University Graduate School of Medicine, Osaka, Japan
            address:
               name:Department of Internal Medicine and Therapeutics, Osaka University Graduate School of Medicine, Osaka, Japan,
               type:PostalAddress
            type:Organization
      name:H. Takeda
      affiliation:
            name:Department of Medical Information Science, Osaka University School of Medicine, Osaka, Japan
            address:
               name:Department of Medical Information Science, Osaka University School of Medicine, Osaka, Japan,
               type:PostalAddress
            type:Organization
      name:M. Hori
      affiliation:
            name:Department of Internal Medicine and Therapeutics, Osaka University Graduate School of Medicine, Osaka, Japan
            address:
               name:Department of Internal Medicine and Therapeutics, Osaka University Graduate School of Medicine, Osaka, Japan,
               type:PostalAddress
            type:Organization
      name:Y. Nakamura
      affiliation:
            name:Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108–8639, Japan
            address:
               name:Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108–8639, Japan,
               type:PostalAddress
            type:Organization
PostalAddress:
      name:Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108–8639, Japan,
      name:Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108–8639, Japan,
      name:Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108–8639, Japan,
      name:Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108–8639, Japan,
      name:Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108–8639, Japan,
      name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan,
      name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan,
      name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan,
      name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan,
      name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan,
      name:Osaka Acute Coronary Insufficiency Study (OACIS) Group, Osaka, Japan,
      name:Department of Internal Medicine and Therapeutics, Osaka University Graduate School of Medicine, Osaka, Japan,
      name:Department of Internal Medicine and Therapeutics, Osaka University Graduate School of Medicine, Osaka, Japan,
      name:Department of Internal Medicine and Therapeutics, Osaka University Graduate School of Medicine, Osaka, Japan,
      name:Department of Medical Information Science, Osaka University School of Medicine, Osaka, Japan,
      name:Department of Internal Medicine and Therapeutics, Osaka University Graduate School of Medicine, Osaka, Japan,
      name:Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108–8639, Japan,
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