Study: JGAS00000000035

Identifier

AccessionJGAS00000000035

Description

TitleSearching for rare/low frequency variants in rheumatoid arthritis by exome sequencing
AbstractRheumatoid arthritis (RA) is a multifactorial and systemic autoimmune disease and characterized by synovial inflammation and hyperplasia, autoantibody production, cartilage and bone destruction and systemic features including cardiovascular, pulmonary, psychological and skeletal disorders. Although the causality of RA is not completely understood, genetic factors contribute to the onset. About 60% of the RA risk is genetic. To identify causative- or susceptible- rare/low-frequency variants in RA, exome sequencing of 39 patients with RA was conducted. We also conducted genotyping of pooled healthy men and women exome-sequencing data.
Study Type 1
Study TypeExome Sequencing
Study Type 2
Study TypeCase Set
Study Type 3
Study TypeControl Set

Publication

Publication 1
PubMed ID23364395
Publication Statuspublished
DB TypePUBMED
Publication 2
PubMed ID26016412
Publication Statuspublished
DB TypePUBMED

Study Attribute

NBDC Numberhum0037
Registration date2014-01-01
Submitting organizationTokai University School of Medicine
Dataset
Accession Title Dataset type Data objects Policy
JGAD00000000035 Exome data set of rheumatoid arthritis Random exome sequencing 39 JGAP00000000001