The Post-GWAS Era: How to Validate the Contribution of Gene Variants in Lupus.
Curr Rheumatol Rep
; 21(1): 3, 2019 01 23.
Article
in En
| MEDLINE
| ID: mdl-30673885
PURPOSE OF REVIEW: Systemic lupus erythematosus (SLE) is a complex autoimmune disease with strong genetic associations. Here, we provide an update on recent advancements in validating SLE candidate genes and risk variants identified in genome-wide association studies (GWAS). RECENT FINDINGS: A pairing of computational biology with new and emerging techniques has significantly increased our understanding of SLE associated variants. Specifically, generation of mutations within mice and examination of patient samples has been the dominant mechanisms for variant validation. While progress has been made in validating some genes, the number of associated genes is growing with minimal exploration of the effects of individual variants on SLE. This indicates that further examination of SLE risk variants in a cell-type-specific manner is required for better understanding of their contributions to SLE disease mechanisms.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Lupus Erythematosus, Systemic
Type of study:
Prognostic_studies
Limits:
Animals
/
Humans
Language:
En
Journal:
Curr Rheumatol Rep
Journal subject:
REUMATOLOGIA
Year:
2019
Document type:
Article
Affiliation country:
United States
Country of publication:
United States