Identification and clinical application of susceptibility genes for diabetes mellitus.

糖尿病易感基因的鉴定及临床应用.

• 批准号: 17019047
• 负责人: KASUGA Masato
• 金额: $ 122.82万
• 依托单位: Kobe University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research on Priority Areas
• 财政年份: 2005
• 资助国家: 日本
• 起止时间: 2005 至 2009
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-17019047/
• 关键词: 糖尿病; 遺伝子; KCNQ1; GWAS; 候補遺伝子; 予測モデル; 遺伝因子; 2型糖尿病; ゲノムワイド関連解析; SNP; KCNQ1遺伝子; cumulative risk; 関連解析; TCF7L2遺伝子; HHEX遺伝子; レジスチン; CPT1A; HNF4α; AMPK; TCF7L2; UCP2; Resistin; CYP2C9; UCP1; hepatic lipid content; adiponectin receptors

By a genome-wide association study (GWAS) using 100,000 SNPs, we identified KCNQ1 as a novel susceptibility gene for type 2 diabetes mellitus, and performed functional analysis. This turned out to be one of the most important genetic factors in multiple ethnic groups. We also examined other genetic factors for diabetes and found that risk allele frequencies of the SNPs are variable among populations. Furthermore, we reported that the prediction power of all the susceptibility SNPs combined is not sufficient, indicating the existence of unknown genetic factors. We also reported novel diabetes-related genes by candidate gene and candidate region approaches.

通过使用100，000个SNP的全基因组关联研究（GWAS），我们确定KCNQ1为2型糖尿病的新易感基因，并进行功能分析。事实证明，这是多个种族群体中最重要的遗传因素之一。我们还研究了糖尿病的其他遗传因素，发现SNP的风险等位基因频率在人群中是可变的。此外，我们报告说，所有的易感性SNP组合的预测能力是不够的，这表明存在未知的遗传因素。我们还报道了新的糖尿病相关基因的候选基因和候选区域的方法。

项目成果

Genetic variations of the ABC transporter gene ABCC3 in a Japanese population

• DOI: 10.2133/dmpk.22.129
• 发表时间: 2007-01-01
• 期刊: DRUG METABOLISM AND PHARMACOKINETICS
• 影响因子: 2.1
• 作者: Fukushima-Uesaka, Hirorni;Saito, Yoshiro;Sawada, Jun-ichi
• 通讯作者: Sawada, Jun-ichi

Replication of genome-wide association studies of type 2 diabetes susceptibility in Japan

• DOI: 10.1210/jc.2008-0452
• 发表时间: 2008-08-01
• 期刊: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
• 影响因子: 5.8
• 作者: Horikawa, Yukio;Miyake, Kazuaki;Kasuga, Masato
• 通讯作者: Kasuga, Masato

Plasma resistin, associated with single nucleotide polymorphism -420, is correlated with insulin resistance, lower HDL, and high sensitivity CRP in the Japanese general population

血浆抵抗素与单核苷酸多态性 -420 相关，与日本普通人群中的胰岛素抵抗、低 HDL 和高敏感性 CRP 相关

• 发表时间: 2007
• 期刊: Diabetes Care 30
• 作者: Osawa;H.;Makino;H. (12人中12番目);ほか10名
• 通讯作者: ほか10名

「糖尿病学 基礎と臨床」, 糖尿病遺伝子診断・治療

《糖尿病基础知识与临床实践》，糖尿病基因诊断与治疗

• 发表时间: 2007
• 作者: Higashimoto I;Yoshiura K;Hirakawa N;Higashimoto K;Soejima H;Totoki T;Mukai T;Niikawa N;安田 和基
• 通讯作者: 安田 和基

Genetic variations and haplotype structures of transcription factor Nrf2 and its cytosolic reservoir protein Keap1 in Japanese

日语转录因子Nrf2及其胞浆库蛋白Keap1的遗传变异和单倍型结构

• 发表时间: 2007
• 期刊: Drug Metab Pharmacokinet 22
• 作者: Fukushima-Uesaka;H.;et. al.
• 通讯作者: et. al.