The University of Osaka · Biochemistry, Genetics and Molecular Biology
Saori Sakaue 교수의 연구실은 일본인을 중심으로 한 대규모 유전체 데이터를 바탕으로 인구 유전학과 복합형질의 유전적 기반을 탐구합니다. 특히 미세RNA(microRNA)의 발현 조절 메커니즘과 그 유전적 기초(eQTL)를 일본인 집단에서 규명하며, 다양한 질병과 관련된 유전자 변이의 기능적 해석에 초점을 맞추고 있습니다. 또한, 생물정보학적 접근을 통해 유전적 다양성과 질병 위험 간의 연관성을 탐색하고 있습니다.
Figures are computed from collected data and may differ slightly.
The diversity in our genome is crucial to understanding the demographic history of worldwide populations. However, we have yet to know whether subtle genetic differences within a population can be disentangled, or whether they have an impact on complex traits. Here we apply dimensionality reduction methods (PCA, t-SNE, PCA-t-SNE, UMAP, and PCA-UMAP) to biobank-derived genomic data of a Japanese population (n = 169,719). Dimensionality reduction reveals fine-scale population structure, conspicuou
Supplementary data are available at Bioinformatics online.
MicroRNAs (miRNAs) modulate the post-transcriptional regulation of target genes and are related to biology of complex human traits, but genetic landscape of miRNAs remains largely unknown. Given the strikingly tissue-specific miRNA expression profiles, we here expand a previous method to quantitatively evaluate enrichment of genome-wide association study (GWAS) signals on miRNA-target gene networks (MIGWAS) to further estimate tissue-specific enrichment. Our approach integrates tissue-specific e
Pulmonary alveolar proteinosis (PAP) is a devastating lung disease caused by abnormal surfactant homeostasis, with a prevalence of 6-7 cases per million population worldwide. While mutations causing hereditary PAP have been reported, the genetic basis contributing to autoimmune PAP (aPAP) has not been thoroughly investigated. Here, we conducted a genome-wide association study of aPAP in 198 patients and 395 control participants of Japanese ancestry. The common genetic variant, rs138024423 at 6p2
Understanding the genetic effects on non-coding RNA (ncRNA) expression facilitates functional characterization of disease-associated genetic loci. Among several classes of ncRNAs, microRNAs (miRNAs) are key post-transcriptional gene regulators. Despite its biological importance, previous studies on the genetic architecture of miRNA expression focused mostly on the European individuals, underrepresented in other populations. Here, we mapped miRNA expression quantitative trait loci (miRNA-eQTL) fo
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