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Genes and Immunity
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Genes and Immunity
Article . 2012 . Peer-reviewed
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A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus

Authors: Wang, S.; Adrianto, I.; Wiley, G. B.; Lessard, C. J.; Kelly, J. A.; Adler, A. J.; Glenn, S. B.; +42 Authors

A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus

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<1 × 10(-4)). A single risk haplotype was observed in all associated populations. Individuals harboring the risk haplotype display a significant increase in both UBE2L3 mRNA expression (P=0.0004) and UBCH7 protein expression (P=0.0068). The results suggest that variants carried on the SLE-associated UBE2L3 risk haplotype influence autoimmunity by modulating UBCH7 expression.

Country
United Kingdom
Keywords

Male, Unclassified drug, Autoimmunity, UBIQUITIN-CONJUGATING ENZYME, VARIANTS, Linkage Disequilibrium, systemic lupus erythematosus, E2, Haplotype, Lupus Erythematosus, Systemic, Priority journal, Risk assessment, African Americans, Messenger RNA, Genetic analysis, Single Nucleotide, Hispanic or Latino, CROHNS-DISEASE, UBE2L3, ADMIXTURE, Ubiquitin conjugating enzyme, Female, Hispanic Americans, Human, Asian Continental Ancestry Group, LIGASE ITCH, SUSCEPTIBILITY LOCI, European Continental Ancestry Group, DNA-SEQUENCING DATA, 610, Major clinical study, Polymorphism, Single Nucleotide, Article, White People, multi-ethnic association study, Systemic lupus erythematosus, Asian People, Humans, UBE2L3 protein, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, Polymorphism, Alleles, Lupus Erythematosus, Ubiquitin, UBCH7 expression, Systemic, Black or African American, CARRIER PROTEIN, Haplotypes, Multi-ethnic association study, Ubiquitin-Conjugating Enzymes, Genetic association, Gene expression

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selected citations
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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