Novel Genetic Variations and Haplotypes of Hepatocyte Nuclear Factor 4α(HNF4A) Pound in Japanese Type II Diabetic Patients

• FUKUSHIMA-UESAKA Hiromi

  Project Team for Pharmacogenetics, National Institute of Health Sciences Division of Biochemistry and Immunochemistry, National Institute of Health Sciences

• SAITO Yoshiro

  Project Team for Pharmacogenetics, National Institute of Health Sciences Division of Biochemistry and Immunochemistry, National Institute of Health Sciences

• MAEKAWA Keiko

  Project Team for Pharmacogenetics, National Institute of Health Sciences Division of Biochemistry and Immunochemistry, National Institute of Health Sciences

• SAEKI Mayumi

  Project Team for Pharmacogenetics, National Institute of Health Sciences

• KAMATANI Naoyuki

  Division of Genomic Medicine, Department of Advanced Biomedical Engineering and Science, Tokyo Women's Medical University

• KAJIO Hiroshi

  Division of Endocrine and Metabolic Diseases, the Hospital, International Medical Center of Japan

• KUZUYA Nobuaki

  Division of Endocrine and Metabolic Diseases, the Hospital, International Medical Center of Japan

• YASUDA Kazuki

  Department of Metabolic Disorder, Research Institute, International Medical Center of Japan

• SAWADA Jun-ichi

  Project Team for Pharmacogenetics, National Institute of Health Sciences Division of Biochemistry and Immunochemistry, National Institute of Health Sciences

書誌事項

タイトル別名

• Novel Genetic Variations and Haplotypes of Hepatocyte Nuclear Factor 4.ALPHA.(HNF4A) Found in Japanese Type II Diabetic Patients

抄録

  Thirty-nine single nucleotide variations, including 16 novel ones, were found in the 5′ promoter region, all of the exons and their surrounding introns of HNF4A in 74 Japanese type II diabetic patients. The following novel variations were identified (based on the amino acid numbering of splicing variant 2): -208G>C in the 5′ promoter region; 1154C>T (A385V) and 1193T>C (M398T) in the coding exons; 1580G>A, 1852G>T, 2180C>T, 2190G>A, and 2362_2380delAAGAATGGTGTGGGAGAGG in the 3′-untranslated region, and IVS1+231G>A, IVS2-83C>T, IVS3+50C>T, IVS3-54delC, IVS5+173_176delTTAG, IVS5-181_-180delAT, IVS8-106A>G, and IVS9-151A>C in the introns. The allele frequencies were 0.311 for 2362_2380delAAGAATGGTGTGGGAGAGG, 0.054 for 1580G>A, 0.047 for 1852G>T, 0.020 for IVS1+231G>A, 0.014 for IVS9-151A>C, and 0.007 for the other 11 variations. In addition, one known nonsynonymous single nucleotide polymorphism, 416C>T (T139I), was detected at a 0.007 frequency. Based on the linkage disequilibrium profiles, the region analyzed was divided into three blocks. Haplotype analysis determined/inferred 10, 16, and 12 haplotypes for block 1, 2, and 3, respectively. Our results on HNF4A variations and haplotypes would be useful for pharmacogenetic studies in Japanese.<br>

収録刊行物

• Ｄｒｕｇ　Ｍｅｔａｂｏｌｉｓｍ　ａｎｄ　Ｐｈａｒｍａｃｏｋｉｎｅｔｉｃｓ

  Ｄｒｕｇ　Ｍｅｔａｂｏｌｉｓｍ　ａｎｄ　Ｐｈａｒｍａｃｏｋｉｎｅｔｉｃｓ 21 (4), 337-346, 2006

  日本薬物動態学会

キーワード

• <i>HNF4A</i>
• genetic variation
• amino acid alteration
• haplotype

詳細情報

• CRID: 1390001205178762240
• NII論文ID: 10018043031
• NII書誌ID: AA1162652X
• DOI: 10.2133/dmpk.21.337
• ISSN: 18800920
• ISSN: 13474367
• Web Site: http://api.elsevier.com/content/article/PII:S1347436715307059?httpAccept=text/xml
• Web Site: http://api.elsevier.com/content/article/PII:S1347436715307059?httpAccept=text/plain
• Web Site: https://search.jamas.or.jp/link/ui/2007071245
• 本文言語コード: en
• データソース種別:
  • JaLC
  • Crossref
  • CiNii Articles
• 抄録ライセンスフラグ: 使用不可