The genetics of systemic lupus erythematosus: understanding how SNPs confer disease susceptibility

scientific article published on 9 September 2006

The genetics of systemic lupus erythematosus: understanding how SNPs confer disease susceptibility is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

External links are
P356DOI10.1007/S00281-006-0033-4
P698PubMed publication ID16964481

P50authorMarta E Alarcón-RiquelmeQ28751753
P2860cites workHapMap: Building a Database with BlocksQ73363882
Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasiaQ77425768
Coordinate overexpression of interferon-alpha-induced genes in systemic lupus erythematosusQ81129128
Mapping common regulatory variants to human haplotypesQ81511258
Genome-wide associations of gene expression variation in humansQ21145274
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosusQ24530690
Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4Q24538382
A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasiaQ24652629
Engagement of the PD-1 immunoinhibitory receptor by a novel B7 family member leads to negative regulation of lymphocyte activationQ24675931
A haplotype map of the human genomeQ24679827
The evolution of Runx genes I. A comparative study of sequences from phylogenetically diverse model organismsQ24792586
Role of RUNX in autoimmune diseases linking rheumatoid arthritis, psoriasis and lupusQ24805723
Multiple lupus susceptibility loci map to chromosome 1 in BXSB miceQ57089590
Association of PDCD1 with susceptibility to systemic lupus erythematosusQ57307140
Fine Mapping of the SLEB2 Locus Involved in Susceptibility to Systemic Lupus ErythematosusQ57350921
The genetics of systemic lupus erythematosusQ57461969
A RUNX trio with a taste for autoimmunityQ57461999
A Susceptibility Locus for Human Systemic Lupus Erythematosus (hSLE1) on Chromosome 2qQ57462046
Polygenic control of susceptibility to murine systemic lupus erythematosusQ57903408
Global Natural Regulatory T Cell Depletion in Active Systemic Lupus ErythematosusQ61050853
Lupus-like disease and high interferon levels corresponding to trisomy of the type I interferon cluster on chromosome 9pQ61070967
Defective production of interleukin 1 and interleukin 2 in patients with systemic lupus erythematosus (SLE)Q72785419
Perspectives on human genetic variation from the HapMap Project.Q24810962
Development of lupus-like autoimmune diseases by disruption of the PD-1 gene encoding an ITIM motif-carrying immunoreceptorQ28144319
Association of a putative regulatory polymorphism in the PD-1 gene with susceptibility to type 1 diabetesQ28184518
Autoimmune dilated cardiomyopathy in PD-1 receptor-deficient miceQ28201627
PD-L2 is a second ligand for PD-1 and inhibits T cell activationQ28202471
PD-1:PD-L inhibitory pathway affects both CD4(+) and CD8(+) T cells and is overcome by IL-2Q28202803
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphismsQ28203288
Population stratification and spurious allelic associationQ28211105
A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humansQ28211167
Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupusQ28212039
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosusQ28236839
Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetesQ28237016
Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based studyQ28237787
Two discrete promoters regulate the alternatively spliced human interferon regulatory factor-5 isoforms. Multiple isoforms with distinct cell type-specific expression, localization, regulation, and functionQ28243036
A genome-wide search for human type 1 diabetes susceptibility genesQ28247197
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetesQ28248848
Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosusQ28250589
Association of a PDCD1 polymorphism with renal manifestations in systemic lupus erythematosusQ28254474
SLC22A4 and RUNX1: identification of RA susceptible genesQ28265809
Association of the PD-1.3A allele of the PDCD1 gene in patients with rheumatoid arthritis negative for rheumatoid factor and the shared epitopeQ28266117
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritisQ28267921
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.Q28273794
Role of an intronic polymorphism in the PDCD1 gene with the risk of sporadic systemic lupus erythematosus and the occurrence of antiphospholipid antibodiesQ28278154
Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variantQ28280659
A putative regulatory polymorphism in PD-1 is associated with nephropathy in a population-based cohort of systemic lupus erythematosus patientsQ28280744
Expression of the PD-1 antigen on the surface of stimulated mouse T and B lymphocytesQ28282689
Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locusQ28289699
Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with type 1 diabetesQ28300110
Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosusQ28301821
Integral role of IRF-5 in the gene induction programme activated by Toll-like receptorsQ28303818
Structure and chromosomal localization of the human PD-1 gene (PDCD1)Q28307081
Loss of Runx3 function in leukocytes is associated with spontaneously developed colitis and gastric mucosal hyperplasiaQ28591205
A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair familiesQ28776415
Genome scan of human systemic lupus erythematosus: evidence for linkage on chromosome 1q in African-American pedigreesQ28776419
Interferon and granulopoiesis signatures in systemic lupus erythematosus bloodQ29615064
The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1.Q30160168
Isolation and characterization of runxa and runxb, zebrafish members of the runt family of transcriptional regulatorsQ30719749
An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data setsQ31014617
Distinct IL-2 receptor signaling pattern in CD4+CD25+ regulatory T cellsQ33742099
Role of the transcription factor AML-1 in acute leukemia and hematopoietic differentiationQ33862993
Accelerated chemokine receptor 7-mediated dendritic cell migration in Runx3 knockout mice and the spontaneous development of asthma-like diseaseQ33906792
Establishment of NOD-Pdcd1-/- mice as an efficient animal model of type I diabetesQ33920287
Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes.Q33942125
PD-1 immunoreceptor inhibits B cell receptor-mediated signaling by recruiting src homology 2-domain-containing tyrosine phosphatase 2 to phosphotyrosineQ33950150
Cooperation between the GATA and RUNX factors Serpent and Lozenge during Drosophila hematopoiesisQ34052123
Association study designs for complex diseasesQ34186026
Smad-Runx interactions during chondrocyte maturationQ34192311
An etiopathogenic role for the type I IFN system in SLE.Q34319930
Use of unlinked genetic markers to detect population stratification in association studies.Q34390859
Mapping determinants of human gene expression by regional and genome-wide associationQ34421244
Facilitation of beta selection and modification of positive selection in the thymus of PD-1-deficient miceQ34507508
Case-control studies of association in structured or admixed populations.Q34539216
A PD-1 polymorphism is associated with disease progression in multiple sclerosis.Q34557891
The natural interferon-alpha producing cells in systemic lupus erythematosusQ35024789
Upstream and downstream targets of RUNX proteins.Q35102286
Runx3 and Runx1 are required for CD8 T cell development during thymopoiesisQ35146679
Microarray analysis of interferon-regulated genes in SLE.Q35675519
Coordinate regulation of cell growth and differentiation by TGF-beta superfamily and Runx proteinsQ35779701
Lupus susceptibility loci in New Zealand miceQ35836652
Combinatorial interactions of Serpent, Lozenge, and U-shaped regulate crystal cell lineage commitment during Drosophila hematopoiesisQ36161044
Structural variants: changing the landscape of chromosomes and design of disease studiesQ36465163
Influence of human genome polymorphism on gene expressionQ36465182
The cDNA cloning of the transcripts of human PEBP2alphaA/CBFA1 mapped to 6p12.3-p21.1, the locus for cleidocranial dysplasiaQ36872539
Decreased production of and response to interleukin-2 by cultured lymphocytes from patients with systemic lupus erythematosusQ36984523
Runt domain factor (Runx)-dependent effects on CCAAT/ enhancer-binding protein delta expression and activity in osteoblastsQ38312458
Runt homology domain proteins in osteoblast differentiation: AML3/CBFA1 is a major component of a bone-specific complexQ38344674
The Runx3 transcription factor regulates development and survival of TrkC dorsal root ganglia neuronsQ39644959
Runx3 regulates integrin alpha E/CD103 and CD4 expression during development of CD4-/CD8+ T cellsQ40395229
Genetic Contributions to Lupus‐like Disease in (NZB×NZW)F1 MiceQ40433254
Runx3 regulates mouse TGF-beta-mediated dendritic cell function and its absence results in airway inflammationQ40734155
Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex familiesQ41612386
The Runx1 transcription factor inhibits the differentiation of naive CD4+ T cells into the Th2 lineage by repressing GATA3 expressionQ42113879
The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosisQ42949420
Differential regulation of the two principal Runx2/Cbfa1 n-terminal isoforms in response to bone morphogenetic protein-2 during development of the osteoblast phenotype.Q43715840
A new haplotype of PDCD1 is associated with rheumatoid arthritis in Hong Kong Chinese.Q44506552
A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex familiesQ45138861
The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' diseaseQ45142894
Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseasesQ46368513
Protein tyrosine phosphatase gene (PTPN22) polymorphism in multiple sclerosis.Q46375999
Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families: increased T allele frequency in systemic lupus erythematosus patients with autoimmune thyroid diseaseQ46574356
Gaining insight into PTPN22 and autoimmunityQ46825387
Localization of the domains in Runx transcription factors required for the repression of CD4 in thymocytesQ47914889
Power tools for human geneticsQ48111196
PD-1 ligands, negative regulators for activation of naive, memory, and recently activated human CD4+ T cells.Q51995665
Differential requirements for Runx proteins in CD4 repression and epigenetic silencing during T lymphocyte development.Q52111650
Overlapping BXSB congenic intervals, in combination with microarray gene expression, reveal novel lupus candidate genesQ57089471
Identification of intervals on chromosomes 1, 3, and 13 linked to the development of lupus in BXSB miceQ57089565
P433issue2
P921main subjectlupus erythematosusQ188297
systemic lupus erythematosusQ1485
P304page(s)109-117
P577publication date2006-09-09
P1433published inSeminars in ImmunopathologyQ15724576
P1476titleThe genetics of systemic lupus erythematosus: understanding how SNPs confer disease susceptibility
P478volume28

Reverse relations

cites work (P2860)
Q54503537Association of interleukin-18 promoter polymorphisms with WHO pathological classes and serum IL-18 levels in Chinese patients with lupus nephritis.
Q33455772Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.
Q46801714Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus
Q41585169Genetic association of complement component 2 polymorphism with systemic lupus erythematosus
Q43416450No evidence for genetic association of interferon regulatory factor 3 in systemic lupus erythematosus.
Q31156870Occurrence of organ-specific and systemic autoimmune diseases among the first- and second-degree relatives of Caucasian patients with connective tissue diseases: report of data obtained through direct patient interviews.
Q81563984Poverty, not ethnicity, accounts for the differential mortality rates among lupus patients of various ethnic groups
Q53203652Sixth meeting of the European Forum on antiphospholipid antibodies. How to improve the understanding of the antiphospholipid syndrome?

Search more.