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Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci
TLDR
The results show that numerous genes, some with known immune-related functions, predispose to SLE, and evidence of association with replication is found at FCGR2A, PTPN22 and STAT4, regions previously associated with SLE and other autoimmune diseases. Expand
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC
TLDR
The analysis provides informative tag SNPs that capture much of the common variation in the MHC region and that could be used in disease association studies, and it provides new insight into the evolutionary dynamics and ancestral origins of the HLA loci and their haplotypes. Expand
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus
TLDR
A genome-wide association scan and replication study and evidence of two independent signals near TNFAIP3 associated with SLE, including one previously associated with rheumatoid arthritis are found. Expand
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus
TLDR
This work reports monoallelic frameshift or missense mutations and one 3′ UTR variant of TREX1 present in 9/417 individuals with systemic lupus erythematosus but absent in 1,712 controls, and demonstrates that two mutant TREx1 alleles alter subcellular targeting. Expand
Defining the Role of the MHC in Autoimmunity: A Review and Pooled Analysis
TLDR
A number of interesting commonalities and differences across diseases that implicate both general and disease-specific pathogenetic mechanisms in autoimmunity are found. Expand
FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity
TLDR
This work reports strong association between FCGR3B copy number and risk of systemic lupus erythematosus, microscopic polyangiitis and Wegener's granulomatosis in two independent cohorts from the UK and France. Expand
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans
TLDR
The finding that gene copy number polymorphism predisposes to immunologically mediated renal disease in two mammalian species provides direct evidence for the importance of genome plasticity in the evolution of genetically complex phenotypes, including susceptibility to common human disease. Expand
Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus
TLDR
Evidence is found for three functional alleles of IRF5: the previously described exon 1B splice site variant, a 30-bp in-frame insertion/deletion variant of exon 6 that alters a proline-, glutamic acid-, serine- and threonine-rich domain region, and a variant in a conserved polyA+ signal sequence that alters the length of the 3′ UTR and stability of IRf5 mRNAs. Expand
Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus
TLDR
This study comprised 7,219 cases and 15,991 controls of European ancestry, constituting a new genome-wide association study, a meta-analysis with a published GWAS and a replication study, which mapped 43 susceptibility loci, including ten new associations. Expand
Expansion of circulating T cells resembling follicular helper T cells is a fixed phenotype that identifies a subset of severe systemic lupus erythematosus.
TLDR
These findings in SLE patients are consistent with the autoimmune mechanism in sanroque mice and identify Tfh effector molecules as possible therapeutic targets in a recognizable subset of patients with SLE. Expand
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