京都大学 · 医学
Ryo Yamada教授の研究室は、ゲノム情報とトランスクリプトームデータを統合的に解析することで、遺伝的変異が遺伝子発現に与える影響を解明するゲノム統計学を柱としています。特に日本人集団を対象としたeQTL解析を通じて、疾患感受性に関連する遺伝子調節領域の機能的メカニズムを解明しています。また、自己免疫疾患の発症に関与するたんぱく質のシスチル化という翻訳後修飾のメカニズムについても、遺伝子多型と酵素活性の関連を解明する研究を展開しています。
Figures are computed from collected data and may differ slightly.
Profiles of sequence variants that influence gene transcription are very important for understanding mechanisms that affect phenotypic variation and disease susceptibility. Using genotypes at 1.4 million SNPs and a comprehensive transcriptional profile of 15,454 coding genes and 6,113 lincRNA genes obtained from peripheral blood cells of 298 Japanese individuals, we mapped expression quantitative trait loci (eQTLs). We identified 3,804 cis-eQTLs (within 500 kb from target genes) and 165 trans-eQ
Omics studies attempt to extract meaningful messages from large-scale and high-dimensional data sets by treating the data sets as a whole. The concept of treating data sets as a whole is important in every step of the data-handling procedures: the pre-processing step of data records, the step of statistical analyses and machine learning, translation of the outputs into human natural perceptions, and acceptance of the messages with uncertainty. In the pre-processing, the method by which to contro
Citrullinated proteins that are produced by enzymatic deimination of arginine residues in proteins by peptidylarginine deiminases (PADIs) are of particular interest in the pathogenesis of rheumatoid arthritis (RA). First, peptidylarginine deiminase type 4 (PADI4) gene, which codes one of the PADI enzyme isotypes, has a genetic variant that increases susceptibility to RA. The RA-susceptible variant of PADI4 seems to increase the risk of RA by increasing its enzymatic activity. Second, this post-t
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