Allele Frequency Analysis of Rare Diseases among the Japanese Population using the Direct-to-consumer Genetic Testing Information

DOI
  • Ninomiya K
    Social Cooperation Program of IT Healthcare, Graduate School of Pharmaceutical Sciences, The University of Tokyo
  • Nogawa S
    Genequest Inc.
  • Takahashi S
    Genequest Inc.
  • Okura M
    Social Cooperation Program of IT Healthcare, Graduate School of Pharmaceutical Sciences, The University of Tokyo

Bibliographic Information

Other Title
  • DTC遺伝子検査サービスの情報を用いた日本人集団における希少難治性疾患関連遺伝子（CFTR, GBA, BRCA1, BRCA2）の頻度解析とその有効性に関する検証

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Description

<p>　There are 7,000 to 8,000 rare diseases globally, 95％ of which have no therapeutic options. Since 80％ of rare diseases are hereditary, information on pathogenic genes and their frequency is essential for drug discovery. As genetic data accumulated in direct-to-consumer (DTC) genetic testing services have been used for academic research mainly in Europe and the United States, we calculated allele frequencies of several genes related to rare diseases and hereditary diseases using genetic data gathered in a genetic testing service for the Japanese and compared them with previously reported data.</p><p>　Allele frequencies of CFTR, GBA, and BRCA1/2 were conventionally thought to be low in the Japanese, but our results were consistent with recent reports that they are as high as in the Western. Therefore, the information accumulated in the DTC genetic testing service is effective and valid for academic research on rare diseases in Japan.</p>

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Details 詳細情報について

  • CRID
    1390297039773160064
  • DOI
    10.14948/jami.42.17
  • ISSN
    21888469
    02898055
  • Text Lang
    ja
  • Data Source
    • JaLC
  • Abstract License Flag
    Disallowed

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