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Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Research ID

hum0312-v1Release info

This page is a past version (v1). The latest version is v2.
Latest version (v2)

Research title

Genetic study of complex diseases through comprehensive analysis of functional variants

Research overview

Aims
Genome-wide association studies (GWAS) have been conducted in multifactorial diseases such as autoimmune diseases, and more than 1000 disease susceptibility variants have been identified. However, GWAS only indicates the presence of disease-causing variants within a region. The effects of the accumulation of these variants on the functions of cells and tissues involved in disease states must be clarified. This study aims to integrate public GWAS data and expression quantitative trait loci (eQTL) and splicing QTL (sQTL) analyses to elucidate the pathogenesis of various multifactorial diseases through a comprehensive analysis of functional variants.
Methods
Total RNAs from Lymphoblastoid Cell line (LCL) samples were used for Iso-seq and RNA-seq analyses
Participants/materials
Samples with and without interferon (IFNa2) stimulation were obtained from LCL samples derived from the 1000 Genomes Registry.
URL
N/A

Datasets

The list is the one this version published; each dataset's content is shown as it is now.

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
DRA016394NGS (Iso-seq)
  • Iso-seq
Unrestricted-access2024-06-03
DRA018714NGS (Iso-seq)
  • Iso-seq
Unrestricted-access2024-06-03
DRA016393NGS (RNA-seq)
  • RNA-seq
Unrestricted-access2024-06-03
DRA016395NGS (RNA-seq)
  • RNA-seq
Unrestricted-access2024-06-03

Data provider

Principal investigator
Yuta Kochi
Affiliation
Department of Genomic Function and Diversity, Medical Research Institute, Tokyo Medical and Dental University

Research projects

No research projects.

Grants

NameTitleProject number
KAKENHI Grant-in-Aid for Scientific Research (B)
Mechanisms of autoimmune disease pathogenesis through splicing QTLs in immune cells
  • 18H02849
KAKENHI Grant-in-Aid for Scientific Research (B)
Investigating the physiological and pathological significance of NMD target transcripts through transomics analysis
  • 22H02597
KAKENHI Grant-in-Aid for challenging Exploratory Research
Exploring the role of retroelements and their polymorphisms in autoimmune diseases
  • 21K19501

Related publications

No related publications.