『徳島大学 教育・研究者情報データベース (EDB)』---[学外] /
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EID=187026EID:187026, Map:0, LastModified:2013年6月24日(月) 15:11:34, Operator:[松井 栄里], Avail:TRUE, Censor:0, Owner:[水澤 典子], Read:継承, Write:継承, Delete:継承.
種別 (必須): 学術論文 (審査論文) [継承]
言語 (必須): 英語 [継承]
招待 (推奨):
審査 (推奨):
カテゴリ (推奨):
共著種別 (推奨):
学究種別 (推奨):
組織 (推奨):
著者 (必須): 1. (英) Kunika Kiyoshi (日) (読)
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[継承]
2.棚橋 俊仁
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[継承]
3.工藤 英治
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4.水澤 典子 ([徳島大学.大学院医歯薬学研究部.歯学域.口腔科学部門.基礎歯学系.口腔生命科学])
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5. (英) Ichiishi Eiichiro (日) (読)
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[継承]
6. (英) Nakamura Naoto (日) (読)
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7.吉川 敏一 ([京都府立医科大学])
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[継承]
8.山岡 孝
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9. (英) Yasumo Hiroaki (日) (読)
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10. (英) Tsugaw Kazue (日) (読)
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11.森谷 眞紀 (香川小児病院)
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12.井上 寛
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13.板倉 光夫
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題名 (必須): (英) Effect of +36T > C in intron 1 on the glutamine: fructose-6-phosphate amidotransferase 1 gene and its contribution to type 2 diabetes in different populations.  (日)    [継承]
副題 (任意):
要約 (任意): (英) Glutamine: fructose-6-phosphate amidotransferase 1 (GFPT1) acts as a rate-limiting enzyme in the hexosamine biosynthetic pathway, which is an alternative branch of glucose metabolism. To evaluate GFPT1 as a susceptibility gene to type 2 diabetes, we surveyed the polymorphisms related with the gene function of GFPT1 and assessed its contribution to type 2 diabetes with a case-control association study. Screening of the 5'-flanking and all coding regions of GFPT1 revealed eight polymorphisms, one in the 5'-flanking region, one synonymous polymorphism in exon 8, five in introns and one in 3'-UTR, but no mis-sense or non-sense polymorphism. With in silico simulation, a putative promoter region was apparently predicted between 1 kb upstream and 1 kb downstream of the start codon. In this region, +36T>C polymorphism was located on the GC box sequence in intron 1, and its functional effect on promoter activity was confirmed by luciferase reporter assay, introducing a new functional polymorphism of the GFPT1 gene. To examine its association with type 2 diabetes, we analyzed 2,763 Japanese (1,461 controls and 1,302 cases) and 330 Caucasians (190 controls and 140 cases). One possible association of +36T>C was observed in Caucasians, but no association of polymorphisms including +36T>C in intron 1 or haplotypes was observed in Japanese. Although we could not completely rule out a contribution to specific sub-groups or other populations, genetic variation of GFPT1 is unlikely to have a major role in the susceptibility to type 2 diabetes in Japanese.  (日)    [継承]
キーワード (推奨): 1. (英) 5' Flanking Region (日) (読) [継承]
2. (英) Adult (日) (読) [継承]
3. (英) Aged (日) (読) [継承]
4. (英) Aged, 80 and over (日) (読) [継承]
5. (英) Asian Continental Ancestry Group (日) (読) [継承]
6. (英) Base Sequence (日) (読) [継承]
7. (英) Case-Control Studies (日) (読) [継承]
8. (英) Diabetes Mellitus, Type 2 (日) (読) [継承]
9. (英) European Continental Ancestry Group (日) (読) [継承]
10. (英) Female (日) (読) [継承]
11. (英) Genetic Predisposition to Disease (日) (読) [継承]
12. (英) Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing) (日) (読) [継承]
13. (英) Humans (日) (読) [継承]
14. (英) Introns (日) (読) [継承]
15. (英) Male (日) (読) [継承]
16. (英) Middle Aged (日) (読) [継承]
17. (英) Molecular Sequence Data (日) (読) [継承]
18. (英) Polymorphism, Single Nucleotide (日) (読) [継承]
19. (英) Promoter Regions, Genetic (日) (読) [継承]
発行所 (推奨):
誌名 (必須): Journal of Human Genetics (日本人類遺伝学会)
(pISSN: 1434-5161, eISSN: 1435-232X)

ISSN (任意): 1434-5161
ISSN: 1434-5161 (pISSN: 1434-5161, eISSN: 1435-232X)
Title: Journal of human genetics
Title(ISO): J Hum Genet
Publisher: Springer Nature
 (NLM Catalog  (医中誌Web  (Scopus  (CrossRef (Scopus information is found. [need login])
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(必須): 51 [継承]
(必須): 12 [継承]
(必須): 1100 1109 [継承]
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年月日 (必須): 西暦 2006年 9月 26日 (平成 18年 9月 26日) [継承]
URL (任意):
DOI (任意): 10.1007/s10038-006-0072-7    (→Scopusで検索) [継承]
PMID (任意): 17024311    (→Scopusで検索) [継承]
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WOS (任意): 000242719200009 [継承]
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備考 (任意): 1.(英) Article.Affiliation: Division of Genetic Information, Institute for Genome Research, The University of Tokushima, 3-18-15, Kuramoto-cho, Tokushima-city, Tokushima, 770-8503, Japan.  (日)    [継承]
2.(英) Article.PublicationTypeList.PublicationType: Journal Article  (日)    [継承]
3.(英) Article.PublicationTypeList.PublicationType: Research Support, Non-U.S. Gov't  (日)    [継承]

標準的な表示

和文冊子 ● Kiyoshi Kunika, Toshihito Tanahashi, Eiji Kudo, Noriko Mizusawa, Eiichiro Ichiishi, Naoto Nakamura, Toshikazu Yoshikawa, Takashi Yamaoka, Hiroaki Yasumo, Kazue Tsugaw, Maki Moritani, Hiroshi Inoue and Mitsuo Itakura : Effect of +36T > C in intron 1 on the glutamine: fructose-6-phosphate amidotransferase 1 gene and its contribution to type 2 diabetes in different populations., Journal of Human Genetics, Vol.51, No.12, 1100-1109, 2006.
欧文冊子 ● Kiyoshi Kunika, Toshihito Tanahashi, Eiji Kudo, Noriko Mizusawa, Eiichiro Ichiishi, Naoto Nakamura, Toshikazu Yoshikawa, Takashi Yamaoka, Hiroaki Yasumo, Kazue Tsugaw, Maki Moritani, Hiroshi Inoue and Mitsuo Itakura : Effect of +36T > C in intron 1 on the glutamine: fructose-6-phosphate amidotransferase 1 gene and its contribution to type 2 diabetes in different populations., Journal of Human Genetics, Vol.51, No.12, 1100-1109, 2006.

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