|
rs16944
|
|
|
0.040 |
GeneticVariation |
BEFREE |
With respect to MS, IL-1 beta (-511 C/T; rs16944), IL-1 beta (+3954 C/T; rs1143634), IL-1 alpha (-889 C/T; rs1800587), IL-1 alpha (+4845 G/T; rs17561), and the variable number of tandem repeats in intron 2 of the IL-1 receptor antagonist (IL-1RN) gene polymorphisms have been studied in different ethnic groups, leading to conflicting results.
|
20192980 |
2010 |
|
rs121908345
|
|
|
0.010 |
GeneticVariation |
BEFREE |
WGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31.
|
29908077 |
2018 |
|
rs1364050643
|
|
|
0.010 |
GeneticVariation |
BEFREE |
WGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31.
|
29908077 |
2018 |
|
rs121434444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
WGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31.
|
29908077 |
2018 |
|
rs6822844
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We undertook this study to investigate the potential role of polymorphisms rs3136534, rs6822844 and rs2069762 (-330 T/G IL2) in multiple sclerosis (MS) (805 patients of Spanish Caucasian origin and 952 health controls).
|
19523143 |
2009 |
|
rs3136534
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We undertook this study to investigate the potential role of polymorphisms rs3136534, rs6822844 and rs2069762 (-330 T/G IL2) in multiple sclerosis (MS) (805 patients of Spanish Caucasian origin and 952 health controls).
|
19523143 |
2009 |
|
rs854560
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We studied the significance of the PON gene polymorphisms C311S, A162G, Q192R and L55M in 221 patients (including 145 women) with MS and in 661 healthy controls.
|
23487294 |
2013 |
|
rs10492972
|
|
|
0.830 |
GeneticVariation |
BEFREE |
We studied the association of the polymorphic locus rs10492972 present in the KIF1B gene with genetic predisposition and its occurrence in clinical presentations of MS patients resident in western Siberia and the Sakha Republic (Yakutia), Russia. rs10492972 has been genotype in 833 samples of MS patient and 689 healthy controls.
|
21680216 |
2011 |
|
rs41295061
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We show that SLE is associated with rs11594656 (P = 3.87 x 10-7) and there is some evidence of association of rs41295061 with AAV (P = 0.0122), which both have prior association with T1D. rs2104286, an MS and T1D - associated SNP in the IL2RA locus, is not associated with either SLE or AAV.
|
19265545 |
2009 |
|
rs11594656
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We show that SLE is associated with rs11594656 (P = 3.87 x 10-7) and there is some evidence of association of rs41295061 with AAV (P = 0.0122), which both have prior association with T1D. rs2104286, an MS and T1D - associated SNP in the IL2RA locus, is not associated with either SLE or AAV.
|
19265545 |
2009 |
|
rs17066096
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We show that monocytes from carriers of the risk genotype of rs17066096 express more IL-22BP in vitro and cerebrospinal fluid levels of IL-22BP correlate with MS lesion load on magnetic resonance imaging.
|
31292217 |
2019 |
|
rs28359178
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We reported earlier that two mitochondrial gene polymorphisms, UCP2 -866 G/A (rs659366) and mtDNA nt13708 G/A (rs28359178), are associated with multiple sclerosis (MS).
|
19387457 |
2009 |
|
rs659366
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We reported earlier that two mitochondrial gene polymorphisms, UCP2 -866 G/A (rs659366) and mtDNA nt13708 G/A (rs28359178), are associated with multiple sclerosis (MS).
|
19387457 |
2009 |
|
rs1061581
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We reported a strong association between rs2227956 polymorphism and MS risk, which is independent from the association with HSP70-2 rs1061581, and a significant link between hsp70-hom protein expression and MS severity.
|
27609295 |
2016 |
|
rs2227956
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We reported a strong association between rs2227956 polymorphism and MS risk, which is independent from the association with HSP70-2 rs1061581, and a significant link between hsp70-hom protein expression and MS severity.
|
27609295 |
2016 |
|
rs763361
|
|
|
0.770 |
GeneticVariation |
BEFREE |
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.0001, OR 1.63) from C8orf13-BLK (8p23.1, associated with RA and systemic lupus erythematosus), and rs763361 (p = 0.03) from CD226 (18q22.3, associated with multiple sclerosis and type 1 diabetes) in the Colombian population.
|
21765104 |
2011 |
|
rs2736340
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.0001, OR 1.63) from C8orf13-BLK (8p23.1, associated with RA and systemic lupus erythematosus), and rs763361 (p = 0.03) from CD226 (18q22.3, associated with multiple sclerosis and type 1 diabetes) in the Colombian population.
|
21765104 |
2011 |
|
rs13277113
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.0001, OR 1.63) from C8orf13-BLK (8p23.1, associated with RA and systemic lupus erythematosus), and rs763361 (p = 0.03) from CD226 (18q22.3, associated with multiple sclerosis and type 1 diabetes) in the Colombian population.
|
21765104 |
2011 |
|
rs2104286
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We replicated the association of only one (rs2104286) of the two IL2RA SNPs identified in the recently performed genome-wide association study of MS.
|
19125193 |
2009 |
|
rs6897932
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We replicated the association of exon 6 variation (rs6897932) in IL7RA with MS.
|
19231135 |
2009 |
|
rs61731956
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We recently published a study proposing a rare variant in the NR1H3 gene (p.R415Q, rs61731956) as responsible for the onset of multiple sclerosis (MS) in two multi-incident families (Wang et al., 2016).
|
27764669 |
2016 |
|
rs1044165
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We performed an association study of polymorphous variants of MIR146A rs2910164, MIR196A2 rs11614913, MIR499A rs3746444 MIR223 rs1044165 and their combinations with MS risk and severity.
|
26305248 |
2015 |
|
rs1217691063
|
|
|
0.070 |
GeneticVariation |
BEFREE |
We performed a meta-analysis on the association between MS and the following genotypes: MTHFR C677T, A1298C, and GSTP1 A313G polymorphisms, and GSTM1 and GSTT1 null alleles.
|
26150166 |
2015 |
|
rs1222174664
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We performed a meta-analysis on the association between MS and the following genotypes: MTHFR C677T, A1298C, and GSTP1 A313G polymorphisms, and GSTM1 and GSTT1 null alleles.
|
26150166 |
2015 |
|
rs11256593
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We observed that MS-associated <i>IL2RA</i> SNPs rs2104286 and rs11256593 are associated with expression of CD25 in CD4<sup>+</sup> but not CD8<sup>+</sup> T cells.
|
31242590 |
2019 |