|
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We find that the previously investigated single-nucleotide polymorphism rs4774 is associated with MS risk in cases carrying the HLA-DRB1*15 allele (P=0.01, odds ratio (OR): 1.21, 95% confidence interval (CI): 1.04-1.40) or the HLA-A*02 allele (P=0.01, OR: 1.33, 95% CI: 1.07-1.64) and that these associations are independent of the adjacent confirmed MS susceptibility gene CLEC16A.
|
24430172 |
2014 |
|
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We also replicated several known MS associations (HLA-DR15, P = 7.0 x 10(-184); CD58, P = 9.6 x 10(-8); EVI5-RPL5, P = 2.5 x 10(-6); IL2RA, P = 7.4 x 10(-6); CLEC16A, P = 1.1 x 10(-4); IL7R, P = 1.3 x 10(-3); TYK2, P = 3.5 x 10(-3)) and observed a statistical interaction between SNPs in EVI5-RPL5 and HLA-DR15 (P = 0.001).
|
19525955 |
2009 |
|
Multiple Sclerosis
|
0.500 |
Biomarker
|
disease |
CTD_human |
We also replicated several known MS associations (HLA-DR15, P = 7.0 x 10(-184); CD58, P = 9.6 x 10(-8); EVI5-RPL5, P = 2.5 x 10(-6); IL2RA, P = 7.4 x 10(-6); CLEC16A, P = 1.1 x 10(-4); IL7R, P = 1.3 x 10(-3); TYK2, P = 3.5 x 10(-3)) and observed a statistical interaction between SNPs in EVI5-RPL5 and HLA-DR15 (P = 0.001).
|
19525955 |
2009 |
|
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two other SNPs were nominally associated with MS in this dataset, namely CLEC16A rs 12708716 (p = 0.0082, OR = 1.478, 95% CI = 1.106-1.975) and CD226 rs763361 (p = 0.03971, OR = 1.353, CI = 1.014-1.805).
|
20952449 |
2011 |
|
Multiple Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
To explore the CLEC16A association in MS in more detail, we genotyped 57 SNPs in 807 Norwegian MS patients and 1027 Norwegian controls.
|
21179112 |
2011 |
|
Multiple Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
To dissect further the involvement of four recent identified MS susceptibility genes (KIAA0350, IL2RA, RPL5 and CD58) in disease pathogenesis, we genotyped 94 haplotype-tagging single nucleotide polymorphisms (SNPs) from these loci in 1146 MS cases and 1309 controls.
|
19375175 |
2009 |
|
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Three SNPs linked to MS clinical severity showed a significant association between the genotype and either the proportion of active lesions (rs2234978/FAS and rs11957313/KCNIP1) or the proportion of mixed active/inactive lesions (rs8056098/CLEC16A).
|
31228212 |
2020 |
|
Multiple Sclerosis
|
0.500 |
Biomarker
|
disease |
LHGDN |
The expanding genetic overlap between multiple sclerosis and type I diabetes.
|
18987646 |
2009 |
|
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The C-type lectin CLEC16A gene is located at 16p13, a susceptibility locus for several autoimmune diseases, including multiple sclerosis.
|
25823473 |
2015 |
|
Multiple Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Taken together these data provide evidence of joint disease association in T1D and MS within CLEC16A and underline a shared disease pathway.
|
18946483 |
2009 |
|
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Taken together these data provide evidence of joint disease association in T1D and MS within CLEC16A and underline a shared disease pathway.
|
18946483 |
2009 |
|
Multiple Sclerosis
|
0.500 |
Biomarker
|
disease |
CTD_human |
Taken together these data provide evidence of joint disease association in T1D and MS within CLEC16A and underline a shared disease pathway.
|
18946483 |
2009 |
|
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recent association studies in multiple sclerosis (MS) have identified and replicated several single nucleotide polymorphism (SNP) susceptibility loci including CLEC16A, IL2RA, IL7R, RPL5, CD58, CD40 and chromosome 12q13-14 in addition to the well established allele HLA-DR15.
|
20368992 |
2010 |
|
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Overexpression of the Cytokine BAFF and Autoimmunity Risk.
|
28445677 |
2017 |
|
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Of the 17 IMSGC SNPs, five SNPs showed genome-wide significant association with MS: HLA-DRA (P=8E-124), IL7R (P=6E-09), IL2RA (P=1E-11), CD58 (P=4E-09) and CLEC16A (P=3E-12).
|
19834503 |
2009 |
|
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation.
|
27386562 |
2016 |
|
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
|
19525953 |
2009 |
|
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
|
19525953 |
2009 |
|
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex.
|
21653641 |
2011 |
|
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Independent genome-wide association studies highlighted the function of CLEC16A/KIAA0350 polymorphisms modifying the risk to either multiple sclerosis (rs6498169) or type 1 diabetes (rs2903692).
|
19337309 |
2009 |
|
Multiple Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
In reciprocal experiments, a 20 kb fragment of intron 19 of CLEC16A, containing SNPs associated with T1D and MS, as well as with DEXI expression, interacted with the promotor region of DEXI but not with candidate DNA fragments containing other potential causal genes in the region, including CLEC16A.
|
21989056 |
2012 |
|
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
HLA-DRB1*11 and *15, IL7RA rs6897932*C/C, CXCR5 rs523604*A/A, and CLEC16A rs6498169*G/G were found as MS-associated variants common for PPMS and RRMS.
|
30711878 |
2019 |
|
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
|
21833088 |
2011 |
|
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
|
21833088 |
2011 |
|
Multiple Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Furthermore, rs4774*C was associated with DRB1*1501+ MS when conditioned on the presence (OR = 1.67, 95% CI = 1.19-2.37, P = 1.9 x 10(-3)) and absence (OR = 1.49, 95% CI = 1.15-1.95, P = 2.3 x 10(-3)) of CLEC16A rs6498169*G, a putative MS risk allele adjacent to CIITA.
|
20211854 |
2010 |