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A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus
- Source :
- Digital.CSIC. Repositorio Institucional del CSIC, instname, Repositorio EdocUR-U. Rosario, Universidad del Rosario, instacron:Universidad del Rosario
- Publication Year :
- 2012
- Publisher :
- Nature Publishing Group, 2012.
-
Abstract
- Systemic lupus erythematosus (SLE) is an autoimmune disease with diverse clinical manifestations characterized by the development of pathogenic autoantibodies manifesting in inflammation of target organs such as the kidneys, skin and joints. Genome-wide association studies have identified genetic variants in the UBE2L3 region that are associated with SLE in subjects of European and Asian ancestry. UBE2L3 encodes an ubiquitin-conjugating enzyme, UBCH7, involved in cell proliferation and immune function. In this study, we sought to further characterize the genetic association in the region of UBE2L3 and use molecular methods to determine the functional effect of the risk haplotype. We identified significant associations between variants in the region of UBE2L3 and SLE in individuals of European and Asian ancestry that exceeded a Bonferroni-corrected threshold (P
- Subjects :
- Male
Linkage disequilibrium
Unclassified drug
Genome-wide association study
Autoimmunity
medicine.disease_cause
Linkage Disequilibrium
Haplotype
Lupus Erythematosus, Systemic
skin and connective tissue diseases
Genetics (clinical)
Priority journal
Risk assessment
Genetics
African Americans
Messenger RNA
Genetic analysis
Hispanic or Latino
Single Nucleotide
UBE2L3
Ubiquitin conjugating enzyme
Female
Hispanic Americans
Human
Asian Continental Ancestry Group
Immunology
European Continental Ancestry Group
Major clinical study
Biology
Polymorphism, Single Nucleotide
White People
Article
Systemic lupus erythematosus
Asian People
medicine
Humans
UBE2L3 protein
Genetic Predisposition to Disease
Polymorphism
Alleles
Genetic association
Autoimmune disease
Lupus erythematosus
Lupus Erythematosus
Ubiquitin
UBCH7 expression
Systemic
Autoantibody
medicine.disease
Black or African American
Haplotypes
Multi-ethnic association study
Ubiquitin-Conjugating Enzymes
Gene expression
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Digital.CSIC. Repositorio Institucional del CSIC, instname, Repositorio EdocUR-U. Rosario, Universidad del Rosario, instacron:Universidad del Rosario
- Accession number :
- edsair.doi.dedup.....75e171e6adf0caa84f6122b469273e87