Molecularr epidemiology about unexpected sudden death

意外猝死的分子流行病学

• 批准号: 17390205
• 负责人: IWAMOTO Sadahiko
• 金额: $ 9.08万
• 依托单位: Jichi Medical University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 2005
• 资助国家: 日本
• 起止时间: 2005 至 2007
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-17390205/
• 关键词: genome bank; Hypertension; inflammation; retinol binding protein 4; association stud; type2 diabetes; 本態性高血圧; 間質性肺炎

We have constructed three genome banks. The first genome bank is consisted with almost 1000 Japanese population mainly collected from clinics for hypertension case-control study. The second bank is consisted with 21000 Japanese general population from rural area of all over Japan. The third bank is consisted with almost 1000 Mongolian population.Using the hypertension case-control genome panel, we found an association of an intronic variable number of tandem repeat polymorphism in an innate immunity associated gene, that is Cold autoinflammatory syndrome 1 (CIAS1, NLRP3). The repeat number correlated with the transcript level in peripheral leukocytes. The high expresser genotype showed higher blood pressure than the low expresser type, and the. CIAS1 expression level correlated with expression of interleukin-1 (3. The transgenic mice expressing human CIAS1 in leukocytes were susceptible to newborn death from severe pneumonitis and aseptic pneumonitis after injection of low dose lipopol … More ysaccharide into adult transgenic mice. The peritoneal -macrophages showed enhanced expression of pre-IL-113 in the cytoplasm and enhanced the extracellular excretion of 1L-1β These data implicated that the expression level of the molecule of innate immunity may be involved in the susceptibility of hypertension through the enhanced inflammatory response.Insulin resistance is one of the principal pathogenesis of arteriosclerotic disorders. Mongolian diabetic case-control panel was used to survey the association of recently identified adipokine, retinol binding protein. 4 (RBP4). A significant association was shown with a regulatory SNP, minor allele of which enhanced the expression in both hepatocytes and adipocytes. The RBP4 regulatory SNP was also correlated with BMI in Japanese. RBP4 from adipocytes may be involved in the adipogenesis and further insulin resistance.These population genetics based studies identified several novel loci associated with common diseases. Whether these genetic factors are involved in the forensic cases remains to be assessed. Less

我们已经建立了三个基因组库。第一个基因组库由近1000名日本人组成，主要来自高血压病例对照研究的诊所。第二家银行由来自日本各地农村地区的21000名日本普通人口组成。第三个数据库由近1000名蒙古族人群组成，利用高血压病例对照基因组面板，我们发现先天免疫相关基因Cold autoinflammatory syndrome 1（CIAS 1，NLRP 3）的内含子可变数目串联重复序列多态性与高血压的发生有关联。外周血白细胞中的转录水平与重复数相关。高表达基因型的血压高于低表达基因型，且高表达基因型的血压与低表达基因型的血压呈负相关。CIAS 1表达水平与白细胞介素-1表达水平相关（3。在白细胞中表达人CIAS 1的转基因小鼠在注射低剂量Lipopol后容易因严重肺炎和无菌性肺炎而死亡 ...更多信息 转化为成年转基因小鼠。腹腔巨噬细胞IL-113前体表达增强，IL-1β分泌增加，提示先天免疫分子的表达水平可能通过增强炎症反应参与高血压的易感性。采用蒙古族糖尿病病例对照组，研究脂肪因子、视黄醇结合蛋白与糖尿病的关系。4（RBP4）。一个显着的关联显示与调节SNP，次要等位基因，增强在肝细胞和脂肪细胞的表达。RBP 4调节SNP也与日本人的BMI相关。这些基于群体遗传学的研究发现了几个与常见疾病相关的新基因座。这些遗传因素是否涉及法医案件仍有待评估。少

项目成果

Blood chimerism in monoehorionic twins conceived by induced ovulation: case report

诱导排卵怀上的单绒毛膜双胞胎的血液嵌合现象：病例报告

• 发表时间: 2006
• 期刊: Hum Reprod 21
• 作者: Munkhtulga L;Nakayama K;Utsumi N;Yanagisawa Y;Gotoh T;Omi T;Kumada M;Erdenebulgan B;Zolzaya K;Lkhagvasuren T;Iwamoto S.;Aoki R.
• 通讯作者: Aoki R.

Comparative study of polymorphisms on genes associated with lifestyle relate diseases in Asian and Pacific populations

亚太人群生活方式相关疾病相关基因多态性的比较研究

• 发表时间: 2007
• 作者: Nakayama;K
• 通讯作者: K

モンゴル人における小胞体ストレス関連遺伝子群多型と2型糖尿病感受性の関連解析

蒙古族内质网应激相关基因多态性与2型糖尿病易感性的关联分析

• 发表时间: 2006
• 作者: 岩本 禎彦;宇津見 七海;近江 俊徳;後藤 孝也;坂本 敦司;中山 一大;中山 一大
• 通讯作者: 中山 一大

CATERPILLAR遺伝子群のSNPタイピングによる本態性高血圧との関連解析

CATERPILLAR基因组SNP分型与原发性高血压的关联分析

• 发表时间: 2005
• 作者: 岩本 禎彦;宇津見 七海;近江 俊徳;後藤 孝也;坂本 敦司;中山 一大;中山 一大;中山 一大;岩本 禎彦;後藤 孝也;坂本 敦司;北村 歌奈子
• 通讯作者: 北村 歌奈子

Genetic heterogeneity in a susceptible region for essential hypertension among demographically different local populations in Japan.

日本人口不同的当地人群中原发性高血压易感地区的遗传异质性。

• 发表时间: 2008
• 期刊: Community Genet. 11(3)
• 作者: Kumada M;Lkhagvasuren M;Utsumi N,Omi T;Gotoh T;Kamesaki T;Okuda H;Kajii E;Iwamoto S.
• 通讯作者: Iwamoto S.