|
rs1616583
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To clarify the potential involvement of two novel single-nucleotide polymorphisms (SNPs) located in the <i>TLR7</i> gene (rs1634318 and rs1616583) in a variety of immune-related conditions, we studied the variability of these loci in patients from a Polish population with SLE and DLE, as well as in immunocompromised patients who were affected by invasive aspergillosis (IA) and those who were not affected.
|
29599669 |
2018 |
|
rs1980422
|
|
|
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 |
|
rs2736340
|
|
|
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 |
|
rs1800625
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs1800625 SNP may be associated with the development of diabetic retinopathy, cancer, and lupus but may be protective against cardiovascular risk.
|
30863465 |
2019 |
|
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 |
|
rs292001
|
|
|
0.010 |
GeneticVariation |
BEFREE |
C1q rs292001 polymorphism and C1q antibodies in juvenile lupus and their relation to lupus nephritis.
|
26095468 |
2015 |
|
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 |
|
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 |
|
rs3813946
|
|
|
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 |
|
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 |
|
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 |
|
rs1876453
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These data suggest that rs1876453 in CR2 has long-range effects on gene regulation that decrease susceptibility to lupus.
|
25180293 |
2016 |
|
rs1130864
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four of the polymorphisms showed differences between patients and controls. rs3093061 polymorphism was associated with a lower risk of developing lupus principally in the codominant 2 (OR = 0.219, 95% CI 0.108-0.785, P = 0.015) model. rs1130864 was associated with decreased risk mainly under codominant 1 (OR = 0.288, 95% CI 0.143-0.581, P = 0.001) model. rs1205 was associated under the over-dominant model (OR = 0.504, 95% CI 0.270-0.942, P = 0.032).
|
29556849 |
2018 |
|
rs1205
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four of the polymorphisms showed differences between patients and controls. rs3093061 polymorphism was associated with a lower risk of developing lupus principally in the codominant 2 (OR = 0.219, 95% CI 0.108-0.785, P = 0.015) model. rs1130864 was associated with decreased risk mainly under codominant 1 (OR = 0.288, 95% CI 0.143-0.581, P = 0.001) model. rs1205 was associated under the over-dominant model (OR = 0.504, 95% CI 0.270-0.942, P = 0.032).
|
29556849 |
2018 |
|
rs3093061
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four of the polymorphisms showed differences between patients and controls. rs3093061 polymorphism was associated with a lower risk of developing lupus principally in the codominant 2 (OR = 0.219, 95% CI 0.108-0.785, P = 0.015) model. rs1130864 was associated with decreased risk mainly under codominant 1 (OR = 0.288, 95% CI 0.143-0.581, P = 0.001) model. rs1205 was associated under the over-dominant model (OR = 0.504, 95% CI 0.270-0.942, P = 0.032).
|
29556849 |
2018 |
|
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.
|
11085290 |
2000 |
|
rs1050501
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Lupus-Associated Fcγ Receptor IIb-I232T Polymorphism Results in Impairment in the Negative Selection of Low-Affinity Germinal Center B Cells Via c-Abl in Mice.
|
29774664 |
2018 |
|
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 |
|
rs1518110
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Meanwhile, significant difference in genotype frequency at rs1518110 and rs1518111 were found in patients with and without lupus headache (P=0.025, P=0.038, respectively).
|
29199038 |
2018 |
|
rs1518111
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Meanwhile, significant difference in genotype frequency at rs1518110 and rs1518111 were found in patients with and without lupus headache (P=0.025, P=0.038, respectively).
|
29199038 |
2018 |
|
rs2275913
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interleukin-17A rs2275913, Interleukin-17F rs763780 and rs2397084 gene polymorphisms as possible risk factors in Juvenile lupus and lupus related nephritis.
|
26515887 |
2016 |
|
rs2397084
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interleukin-17A rs2275913, Interleukin-17F rs763780 and rs2397084 gene polymorphisms as possible risk factors in Juvenile lupus and lupus related nephritis.
|
26515887 |
2016 |
|
rs763780
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interleukin-17A rs2275913, Interleukin-17F rs763780 and rs2397084 gene polymorphisms as possible risk factors in Juvenile lupus and lupus related nephritis.
|
26515887 |
2016 |
|
rs2104286
|
|
|
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 |
|
rs2004640
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although we could not demonstrate susceptibility toward lupus in the presence of IRF5 rs2004640 (G/T) polymorphism, further exploration of the genetic variability of IRF5 may help uncover its pathogenic role in Indian SLE patients.
|
30168487 |
2018 |