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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.
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
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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