Large scale GWAS and exome analyses of intracranial aneurysms

颅内动脉瘤的大规模 GWAS 和外显子组分析

• 批准号: 22241049
• 负责人: INOUE Ituro
• 金额: $ 25.54万
• 依托单位: National Institute of Genetics
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (A)
• 财政年份: 2010
• 资助国家: 日本
• 起止时间: 2010 至 2012
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-22241049/
• 关键词: 脳動脈瘤; ゲノム全域; アソシエーション・スタディ

Genome-wide association study for intracranial aneurysm was performed and identified four loci with strong statistical values. Among them, we next focused on 9p21 region, which is also associated with many phenotypes including cardiac infarction. About 250 Mb region was sequenced by next generation sequencers and several SNPs were identified with strong statistical significance. We also performed exome analyses to identify rare variants that explain the pathogenesis of IA in some patients.

进行了颅内动脉瘤的全基因组关联研究，并确定了具有强统计学价值的四个位点。其中，我们接下来关注9p21区域，该区域也与包括心肌梗死在内的许多表型相关。用新一代测序仪对约250 Mb的区域进行测序，鉴定出几个具有较强统计学意义的SNP。我们还进行了外显子组分析，以确定罕见的变异，解释IA的发病机制在一些患者。

项目成果

Association of the Jun dimerization protein 2 gene with intracranial aneurysms in Japanese and Korean cohorts as compared to a Dutch cohort.

与荷兰队列相比，日本和韩国队列中 Jun 二聚化蛋白 2 基因与颅内动脉瘤的关联。

• 期刊: Neuroscience (in press)
• 作者: Krischek B;Tajima A;Akagawa H;Narita A;Ruigrok Y;Rinkel G;Wijmenga C;Feigi GC;Kim CJ;Hori T;Tatagiba M;Kasuya H;Inoue I
• 通讯作者: Inoue I

Detection of ancestry informative HLA alleles confirms the admixed origins of Japanese population.

• DOI: 10.1371/journal.pone.0060793
• 发表时间: 2013
• 期刊: PloS one
• 影响因子: 3.7
• 作者: Nakaoka H;Mitsunaga S;Hosomichi K;Shyh-Yuh L;Sawamoto T;Fujiwara T;Tsutsui N;Suematsu K;Shinagawa A;Inoko H;Inoue I
• 通讯作者: Inoue I

ゲノム多様性の形成と維持

基因组多样性的形成和维持

• 发表时间: 2013
• 期刊: 細胞
• 作者: 矢口邦雄;西村幸子;糸原重美;井ノ上 逸朗
• 通讯作者: 井ノ上 逸朗

病気はどこで生まれるのか 進化医学でさぐる病気のしくみ(知りたい!サイエンス)

疾病起源于哪里？通过进化医学探索疾病的机制（我想知道！科学）

• 发表时间: 2012
• 作者: 平田京子;久木章江;石川孝重;斉藤大樹;井ノ上逸朗
• 通讯作者: 井ノ上逸朗

Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk

• DOI: 10.1073/pnas.1117137108
• 发表时间: 2011-12-06
• 期刊: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
• 影响因子: 11.1
• 作者: Yasuno, Katsuhito;Bakircioglu, Mehmet;Guenel, Murat
• 通讯作者: Guenel, Murat