|
rs1050501
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This allosteric regulation by an SNP provides an intrinsic molecular mechanism for the functional loss of FcγRIIB-I232T in SLE patients.
|
31343409 |
2019 |
|
rs1050501
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Indeed, recent epidemiological studies revealed that a non-synonymous single nucleotide polymorphism (rs1050501) within the TM domain of FcγRIIB, responsible for the I232T substitution, is associated with the susceptibility to systemic lupus erythematosus (SLE).
|
29497990 |
2018 |
|
rs1050501
|
|
|
0.100 |
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 |
|
rs1050501
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Indeed, human primary B cells from systemic lupus erythematosus patients homozygous for gene encoding the loss-of-function transmembrane domain mutant FcγRIIB-I232T fail to block the synaptic colocalization of the BCR with CD19, leading to dysregulated recruitment of downstream signaling molecule p-PI3K to membrane proximal signalosome.
|
24790152 |
2014 |
|
rs1050501
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A single nucleotide polymorphism in human FcγRIIB (rs1050501) results in profound receptor dysfunction and is associated with systemic lupus erythematosus.
|
25022320 |
2014 |
|
rs1050501
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In humans, a SLE-associated polymorphism (rs1050501) results in a dysfunctional FcγRIIB(T232) receptor.
|
25475856 |
2014 |
|
rs1050501
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Despite LD between FCGR3B CNV and a variant in FcgammaRIIB (I232T) which abolishes inhibitory function, both reduced CN of FCGR3B and homozygosity of the FcgammaRIIB-232T allele were individually strongly associated with SLE risk.
|
20508037 |
2010 |
|
rs1050501
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Among 13 SNPs, univariate (single-marker) family-based association tests showed that variant alleles at only four SNPs (rs10917661 and rs1050501, in exon 2 and exon 5 of FcgammaRIIB gene, rs403016 and rs428888, in exon3 of FcgammaRIIIA gene respectively) were significantly associated with genetic susceptibility to SLE.
|
18625651 |
2008 |
|
rs1050501
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In FCGR2B encoding an inhibitory receptor expressed in B cells, monocytes and dendritic cells, a polymorphism within the transmembrane region, Ile232Thr, was identified and found to be associated with susceptibility to SLE in three Asian populations.
|
17305544 |
2007 |
|
rs1050501
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Univariate (single-marker) family-based association tests (FBATs) demonstrated that variant alleles at two SNPs, rs10917661 and rs1050501, in exons 2 and 5 of FcgammaRIIB gene were significantly associated with genetic susceptibility to SLE in additive model (exon 2, Z=3.444, P=0.00057; exon 5, Z=3.707, P=0.00020), respectively.
|
16531013 |
2006 |
|
rs1050501
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In FCGR2B, a single nucleotide polymorphism leading to a nonsynonymous substitution, Ile232Thr, within the transmembrane domain was identified, and a significant association of the 232Thr/Thr genotype with SLE was observed in Japanese, Thai and Chinese populations, while this allele was found to be rare in Caucasians.
|
16946996 |
2006 |
|
rs1050501
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Collectively, the present findings indicate that the Ile232Thr substitution affects the localization and function of FcgammaRIIB and that the molecular mechanism may link the polymorphism and susceptibility to SLE.
|
16115811 |
2005 |
|
rs1050501
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In contrast, promoter polymorphism of FCGR2B, but not Ile232Thr, was shown to be associated with SLE in Caucasians.
|
16227149 |
2005 |
|
rs1050501
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We previously reported association of FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in three Asian populations.
|
15459183 |
2004 |
|
rs1050501
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We recently identified a single-nucleotide polymorphism encoding a non-synonymous substitution, Ile232Thr (I232T), of FCGR2B and its association with SLE in Japanese and in Thais.
|
14651519 |
2004 |
|
rs1050501
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These results demonstrate the association of a new polymorphism of FCGR2B (I232T) with susceptibility to SLE in the Japanese.
|
12115230 |
2002 |
|
rs10917661
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Among 13 SNPs, univariate (single-marker) family-based association tests showed that variant alleles at only four SNPs (rs10917661 and rs1050501, in exon 2 and exon 5 of FcgammaRIIB gene, rs403016 and rs428888, in exon3 of FcgammaRIIIA gene respectively) were significantly associated with genetic susceptibility to SLE.
|
18625651 |
2008 |
|
rs10917661
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Univariate (single-marker) family-based association tests (FBATs) demonstrated that variant alleles at a SNP, rs10917661, in exon 2 of FcgammaRIIB gene were significantly associated with genetic susceptibility to SLE in additive model (exon 2, Z = 3.444, P = 0.00057). transmission/disequilibrium test (TDT) and sibship disequilibuium test (SDT) analysis showed an excess of the alleles of 50Ter from heterozygous parents to affected offspring (chi(2) = 10.88, P = 0.0013).
|
17393178 |
2007 |
|
rs10917661
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Univariate (single-marker) family-based association tests (FBATs) demonstrated that variant alleles at two SNPs, rs10917661 and rs1050501, in exons 2 and 5 of FcgammaRIIB gene were significantly associated with genetic susceptibility to SLE in additive model (exon 2, Z=3.444, P=0.00057; exon 5, Z=3.707, P=0.00020), respectively.
|
16531013 |
2006 |
|
rs12117530
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, FcγRIIB rs12117530 polymorphism (T allele) may be an important risk factor in SLE.
|
26084639 |
2015 |
|
rs1050499
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We studied three single-nucleotide polymorphisms (SNPs, rs10917661, rs5017567, and rs1050499) encoding non-synonymous substitution in the FcgammaRIIB gene with respect to genetic susceptibility to SLE in collection of 435 subjects from 95 nuclear families.
|
17393178 |
2007 |
|
rs5017567
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We studied three single-nucleotide polymorphisms (SNPs, rs10917661, rs5017567, and rs1050499) encoding non-synonymous substitution in the FcgammaRIIB gene with respect to genetic susceptibility to SLE in collection of 435 subjects from 95 nuclear families.
|
17393178 |
2007 |
|
rs3219018
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we report the identification of a polymorphism in the human FCGR2B promoter (dbSNP no. rs3219018) that is associated in homozygosity with systemic lupus erythematosus (SLE) phenotype in European-Americans (OR=11.1, P=0.003).
|
15895258 |
2005 |