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rs1188383936
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we evaluated 40 patients with antiphospholipid syndrome and thrombosis, 31 primary and nine secondary to systemic lupus erythemathosus, to estimate the carrier rates of factor V Leiden, 20210A --> G prothrombin variant and 677C --> T in the MTHFR gene.
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11085290 |
2000 |
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rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we evaluated 40 patients with antiphospholipid syndrome and thrombosis, 31 primary and nine secondary to systemic lupus erythemathosus, to estimate the carrier rates of factor V Leiden, 20210A --> G prothrombin variant and 677C --> T in the MTHFR gene.
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11085290 |
2000 |
|
rs12938
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified increased levels of soluble L-selectin (sL-selectin), but not soluble E-selectin (sE-selectin) in 278 European-Caucasian lupus patients compared to 230 healthy siblings (P=0.002). sL-selectin levels were markedly elevated in patients with IgG antiphospholipid autoantibodies (P=0.002), suggesting that perhaps sL-selectin defines a subgroup of lupus with vasculopathy. sL-selectin level was also influenced by two L-selectin polymorphisms: 665C>T, F206L in the epidermal growth factor-like domain (P=0.015) and rs12938 in the 3'-untranslated region (P=0.06).
|
15902275 |
2005 |
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rs3813946
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|
|
0.020 |
GeneticVariation |
BEFREE |
Single-nucleotide polymorphism 1 (rs3813946), located in the 5' untranslated region of the CR2 gene, altered transcriptional activity, suggesting a potential mechanism by which CR2 could contribute to the development of lupus.
|
17360460 |
2007 |
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rs7574865
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The haplotype marked by rs7574865 was strongly associated with lupus, being present on 31% of chromosomes of case patients and 22% of those of controls (P=1.87x10(-9); odds ratio for having the risk allele in chromosomes of patients vs. those of controls, 1.55).
|
17804842 |
2007 |
|
rs1048971
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To explore its role in human disease, we analyzed 1,416 individuals from 258 Caucasian and 142 Chinese lupus simplex families and demonstrated that a common three-single-nucleotide polymorphism CR2 haplotype (rs3813946, rs1048971, rs17615) was associated with lupus susceptibility (P = 0.00001) with a 1.54-fold increased risk for the development of disease.
|
17360460 |
2007 |
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rs17615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To explore its role in human disease, we analyzed 1,416 individuals from 258 Caucasian and 142 Chinese lupus simplex families and demonstrated that a common three-single-nucleotide polymorphism CR2 haplotype (rs3813946, rs1048971, rs17615) was associated with lupus susceptibility (P = 0.00001) with a 1.54-fold increased risk for the development of disease.
|
17360460 |
2007 |
|
rs2476601
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interferon-alpha activity and low tumor necrosis factor alpha levels in patients with lupus.
|
18759295 |
2008 |
|
rs1799983
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to evaluate the possible association between six SNPs (A-5466C, T-3892C, A-240T, C1237T, G2215A and A2350G) of the ACE gene and two SNPs (T-786C and G894T) of the eNOS gene with lupus nephropathy in a northern Chinese population.
|
20540812 |
2010 |
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rs370504038
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Five heterozygous mutations were detected at the Y305C polymorphism in European lupus cases but none were observed in European controls.
|
21270825 |
2011 |
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rs72556554
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.
|
21937424 |
2011 |
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rs1143679
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The rs1143679 (R77H) lupus associated variant of ITGAM (CD11b) impairs complement receptor 3 mediated functions in human monocytes.
|
22586164 |
2012 |
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rs3813946
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These data confirm the effects of rs3813946 on CR2 transcription, identifying the 5' UTR to be a novel regulatory element for the CR2 gene in which variation may alter gene function and modify the development of lupus.
|
22673213 |
2012 |
|
rs1206255976
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The identification of new mutation in C1qA gene that disrupts the start codon (ATG to AGG (Met1Arg)) has not been reported previously and it expands the knowledge and importance of the C1q gene in the pathogenesis of lupus especially in the high-risk African-American population.
|
22472776 |
2012 |
|
rs1270942
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk alleles in rs1270942 and rs3131379 increases the odds of also carrying the lupus risk allele in IRF5 (rs2070197) by 17% and 16%, respectively (P = 0.0028 and P = 0.0047, respectively).
|
21952918 |
2012 |
|
rs2070197
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk alleles in rs1270942 and rs3131379 increases the odds of also carrying the lupus risk allele in IRF5 (rs2070197) by 17% and 16%, respectively (P = 0.0028 and P = 0.0047, respectively).
|
21952918 |
2012 |
|
rs3131379
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk alleles in rs1270942 and rs3131379 increases the odds of also carrying the lupus risk allele in IRF5 (rs2070197) by 17% and 16%, respectively (P = 0.0028 and P = 0.0047, respectively).
|
21952918 |
2012 |
|
rs2476601
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide polymorphism, C1858T, associated with several autoimmune diseases such as type I diabetes, rheumatoid arthritis, and lupus.
|
23359562 |
2013 |
|
rs10489265
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNPs of TNFSF4 were associated with renal involvement in lupus patients from the Chinese population (P values for rs2205960 and rs10489265 were 0.014 and 0.005 in additive model, resp.).
|
23936824 |
2013 |
|
rs13023380
|
|
|
0.010 |
GeneticVariation |
BEFREE |
DNA carrying the intronic risk allele rs13023380 showed reduced binding efficiency to a cellular protein complex including nucleolin and lupus autoantigen Ku70/80, and showed reduced transcriptional activity in vivo.
|
23441136 |
2013 |
|
rs2205960
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNPs of TNFSF4 were associated with renal involvement in lupus patients from the Chinese population (P values for rs2205960 and rs10489265 were 0.014 and 0.005 in additive model, resp.).
|
23936824 |
2013 |
|
rs2476601
|
|
|
0.030 |
GeneticVariation |
BEFREE |
To replicate a single nucleotide polymorphism (SNP) of known genes for lupus (IRF5 rs10488631, PTPN22 rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2RA rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic groups in relation to lupus susceptibility.
|
26092158 |
2015 |
|
rs10488631
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To replicate a single nucleotide polymorphism (SNP) of known genes for lupus (IRF5 rs10488631, PTPN22 rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2RA rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic groups in relation to lupus susceptibility.
|
26092158 |
2015 |
|
rs121908117
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, dysfunctional dsDNA degradation by TREX1 D18N induces disease in mice that recapitulates many characteristics of human lupus.
|
25848017 |
2015 |
|
rs1341239
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This preliminary study examined the relevance of a -1149G/T functional single-nucleotide polymorphism (SNP) (rs1341239) in the promoter of the extrapituitary prolactin gene in a cohort of African American and European American women with lupus.
|
26583155 |
2015 |