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 |
rs17615
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A haplotype formed by the minor alleles of three CR2 SNPs (rs1048971, rs17615, rs4308977) showed significant association with decreased risk of SLE (30.4% in cases vs 32.6% in controls, P=0.016, OR=0.90 (0.82-0.98)).
|
19387458 |
2009 |
rs17615
|
|
|
0.020 |
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 |
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 |
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 |
rs4308977
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A haplotype formed by the minor alleles of three CR2 SNPs (rs1048971, rs17615, rs4308977) showed significant association with decreased risk of SLE (30.4% in cases vs 32.6% in controls, P=0.016, OR=0.90 (0.82-0.98)).
|
19387458 |
2009 |
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 |