Development of statistical analysis method for genetic epidemiology of complex clinical phenotypes

复杂临床表型遗传流行病学统计分析方法的开发

• 批准号: 23590379
• 负责人: YAMADA Ryo
• 金额: $ 1.75万
• 依托单位: Kyoto University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 2013
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23590379/
• 关键词: 遺伝的多様性; 統計解析

It is one of urgent issues to realize personalized medicine based on the utilization of genetic heterogeneity. The definitions of clinical entities are complex in many cases and statistical evaluation of association and causation between combination of genetic variants and the clinical complex entities have to be developed. The experimental technology for detection of genetic variants has been in rapid progress, therefore statistical methods for genetic and phenotypic association also have to catch up the change. This research project mainly focused on the clinical phenotypes defined with so-called "diagnosis criteria" and on the emergence of rare variants information and developed statistical methods and also defined the fundamental problems to be solved before developing such methods.

利用遗传异质性实现个体化医疗是当前急需解决的问题之一。在许多情况下，临床实体的定义是复杂的，并且必须开发遗传变体的组合与临床复杂实体之间的关联和因果关系的统计评估。检测遗传变异的实验技术已经在快速发展，因此遗传和表型关联的统计方法也必须跟上变化。该研究项目主要集中在用所谓的“诊断标准”定义的临床表型和罕见变异信息的出现上，并开发了统计方法，还定义了在开发这种方法之前要解决的基本问题。

项目成果

Airflow limitation in smokers is associated with arterial stiffness

吸烟者的气流受限与动脉硬化有关

• 发表时间: 2014
• 期刊: The nagahama study Atherosclerosis
• 作者: Tabara Y.;Muro S.;Yamada R.;et al
• 通讯作者: et al

PLD4 as a noverl susceptibility gene for systemic sclerosis in a Japanese population

PLD4 作为日本人群系统性硬化症的新型易感基因

• 发表时间: 2013
• 期刊: Arthritis & Rheum
• 作者: Terao C.;Ohmura K.;Yamada R.;et al
• 通讯作者: et al

Evaluation of power for linkage disequilibrium mapping

连锁不平衡图谱功效评估

• 发表时间: 2011
• 作者: Yamada R.;Narahara M.;Terao C;et al
• 通讯作者: et al

Three groups in the 28 joints for rheumatoid arthritis synovitis--analysis using more than 17,000 assessments in the KURAMA database.

• DOI: 10.1371/journal.pone.0059341
• 发表时间: 2013
• 期刊: PloS one
• 影响因子: 3.7
• 作者: Terao C;Hashimoto M;Yamamoto K;Murakami K;Ohmura K;Nakashima R;Yamakawa N;Yoshifuji H;Yukawa N;Kawabata D;Usui T;Yoshitomi H;Furu M;Yamada R;Matsuda F;Ito H;Fujii T;Mimori T
• 通讯作者: Mimori T

An Orthogonal Matrix, Which is Useful to Interpre the Restriction of Marginal Counts of Multi-way Tables

一个正交矩阵，有助于解释多路表边缘计数的限制

• 发表时间: 2012
• 作者: Kajimoto S.;Yamada R.
• 通讯作者: Yamada R.