講演情報
[PE2-13]アルツハイマー病に関連する機能変異の網羅的探索
○羅 筱儒1, 久保田 直人2, 須山 幹太2 (1.九州大学 大学院システム生命科学府 情報生物学分野, 2.九州大学 生体防御医学研究所 情報生物学分野)
Mental disorder is one of the multifactorial diseases, for which the cause and treatment are still not fully understood. To search for genetic factors in multifactorial diseases, GWAS has been used as the most common experimental method. However, in many cases, SNPs identified by GWAS are only markers, and the functional variants that contribute to the risk of the disease are unknown. To further understand the mechanism of the diseases, it is necessary to identify functional variants that actually affect gene expression and protein function.
This study aimed to establish a computational process for exploring the functional variants of mental disorders. For this, we used the dataset from the GWAS Catalog to try to infer the possible mechanism of Alzheimer's disease based on SNPs that have strong linkage disequilibrium with disease-related SNPs (risk SNPs).
We classified risk SNPs according to gene location and assessed their functional roles. For example, for the variants found in the promoter and enhancer regions, we tested whether they would affect TF binding level by using the SNP2TFBS database. In addition, using ENCODE TF footprints datasets, we calculated the enrichment of the risk SNPs in the TF footprints of various cell types to judge whether the variants linked to a specific disease are significantly enriched in the TF footprints of a particular type of cell.In summary, we established a computational process for exploring the functional variants of mental disorders, which may provide a reference for future exploration of the disease mechanism.
This study aimed to establish a computational process for exploring the functional variants of mental disorders. For this, we used the dataset from the GWAS Catalog to try to infer the possible mechanism of Alzheimer's disease based on SNPs that have strong linkage disequilibrium with disease-related SNPs (risk SNPs).
We classified risk SNPs according to gene location and assessed their functional roles. For example, for the variants found in the promoter and enhancer regions, we tested whether they would affect TF binding level by using the SNP2TFBS database. In addition, using ENCODE TF footprints datasets, we calculated the enrichment of the risk SNPs in the TF footprints of various cell types to judge whether the variants linked to a specific disease are significantly enriched in the TF footprints of a particular type of cell.In summary, we established a computational process for exploring the functional variants of mental disorders, which may provide a reference for future exploration of the disease mechanism.