rs12608932
|
|
C |
0.880 |
GeneticVariation |
GWASDB |
No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.
|
24234648 |
2014 |
rs12608932
|
|
|
0.880 |
GeneticVariation |
BEFREE |
In both cohorts, the minor allele of rs12608932 in UNC13A was not only associated with susceptibility but also with shorter survival of ALS patients.
|
22118904 |
2012 |
rs12608932
|
|
|
0.880 |
GeneticVariation |
GWASCAT |
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
|
27455348 |
2016 |
rs12608932
|
|
|
0.880 |
GeneticVariation |
BEFREE |
136 sporadic ALS (sALS) patients and 487 healthy controls were genotyped for the UNC13A rs12608932 variant.
|
26162714 |
2015 |
rs12608932
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in the 9p21, rs12608932 in the UNC13A gene, rs13048019 in the TIMA1 gene, and rs2228576 in the SCNN1A gene have been reported to be associated with the risk for developing amyotrophic lateral sclerosis (ALS) in Caucasian population.
|
24493373 |
2014 |
rs12608932
|
|
|
0.880 |
GeneticVariation |
BEFREE |
The present meta-analysis suggests that rs12608932(C) is associated with increased ALS susceptibility, especially in Caucasian and European subjects, and that the CC genotype of rs12608932 is associated with reduced ALS patient survival.
|
31201598 |
2019 |
rs12608932
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Overall, minor allele carrier status of rs12608932 was strongly associated with an approximate 1-year reduction of survival in ALS patients, making it a significant determinant of phenotype variation.
|
22921269 |
2013 |
rs12608932
|
|
|
0.880 |
GeneticVariation |
GWASCAT |
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
|
19734901 |
2009 |
rs12608932
|
|
|
0.880 |
GeneticVariation |
GWASDB |
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.
|
20801717 |
2010 |
rs12608932
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Our findings demonstrate converging evidence that rs12608932 may modify frontotemporal disease in sporadic ALS and suggest that rs12608932 may function as a prognostic indicator and could be used to define patient endophenotypes in clinical trials.
|
30368160 |
2019 |
rs12608932
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Eight genomic regions provided evidence of association with ALS, including 9p21.2 (rs3849942, odds ratio [OR] = 1.21; p = 4.41 × 10(-7)), 17p11.2 (rs7477, OR = 1.30; p = 2.89 × 10(-7)), and 19p13 (rs12608932, OR = 1.37, p = 1.29 × 10(-7)).
|
22959728 |
2013 |
rs12608932
|
|
C |
0.880 |
GeneticVariation |
GWASCAT |
Eight genomic regions provided evidence of association with ALS, including 9p21.2 (rs3849942, odds ratio [OR] = 1.21; p = 4.41 × 10(-7)), 17p11.2 (rs7477, OR = 1.30; p = 2.89 × 10(-7)), and 19p13 (rs12608932, OR = 1.37, p = 1.29 × 10(-7)).
|
22959728 |
2013 |
rs12608932
|
|
C |
0.880 |
GeneticVariation |
GWASCAT |
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.
|
24931836 |
2014 |
rs12608932
|
|
|
0.880 |
GeneticVariation |
GWASDB |
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
|
19734901 |
2009 |
rs12608932
|
|
|
0.880 |
GeneticVariation |
BEFREE |
We performed a replication study of the 2 genetic variants, rs2814707 on 9p21.2 and rs12608932 on 19p13.3 that are recently reported to be most significantly associated with sporadic amyotrophic lateral sclerosis (ALS) in Caucasians.
|
21295378 |
2011 |
rs12608932
|
|
C |
0.880 |
GeneticVariation |
GWASDB |
Eight genomic regions provided evidence of association with ALS, including 9p21.2 (rs3849942, odds ratio [OR] = 1.21; p = 4.41 × 10(-7)), 17p11.2 (rs7477, OR = 1.30; p = 2.89 × 10(-7)), and 19p13 (rs12608932, OR = 1.37, p = 1.29 × 10(-7)).
|
22959728 |
2013 |
rs3849942
|
|
|
0.870 |
GeneticVariation |
BEFREE |
In the joint analysis, which included samples from 4312 patients with ALS and 8425 control individuals, rs3849942</span> (p=4·64×10(-10); OR 1·22, 95% CI 1·15-1·30) and rs2814707 (p=4·72×10(-10); 1·22, 1·15-1·30) were associated with ALS.
|
20801717 |
2010 |
rs3849942
|
|
|
0.870 |
GeneticVariation |
BEFREE |
All expansion-positive patients were genotyped for rs3849942, a surrogate marker for the chromosome 9p21 risk haplotype previously associated with FTD and ALS.
|
22875086 |
2012 |
rs3849942
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Among 124 876 cases and controls, genome-wide conjunction analyses of ALS, FTD, PD, AD, CBD, and PSP revealed significant genetic overlap between ALS and FTD at known ALS loci: rs13302855 and rs3849942 (nearest gene, C9orf72; P = .03 for rs13302855 and P = .005 for rs3849942) and rs4239633 (nearest gene, UNC13A; P = .03).
|
29630712 |
2018 |
rs3849942
|
|
|
0.870 |
GeneticVariation |
GWASDB |
In this analysis, two single nucleotide polymorphisms in a locus on chromosome 9p21.2 were associated with ALS: rs3849942 (p=2·22×10(-6); odds ratio [OR] 1·39, 95% CI 1·21-1·59) and rs2814707 (p=3·32×10(-6); 1·38, 1·20-1·58).
|
20801717 |
2010 |
rs3849942
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Genome-wide association testing was performed first using all samples, and then restricting the analysis to samples not carrying the mutation. rs3849942 and rs903603 were strongly associated with ALS when all samples were included (rs3849942, p = [3 × 2] × 10(-6), rank 7/442,057; rs903603, p = [7 × 6] × 10(-8), rank 2/442,057).
|
23587638 |
2013 |
rs3849942
|
|
|
0.870 |
GeneticVariation |
BEFREE |
We performed a replication study of the 2 genetic variants, rs34517613 on 17q11.2 and rs3849942 on 9p21.2 in patients with sporadic amyotrophic lateral sclerosis (ALS) and Parkinson's disease in a Chinese population.
|
26304631 |
2015 |
rs3849942
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Eight genomic regions provided evidence of association with ALS, including 9p21.2 (rs3849942, odds ratio [OR] = 1.21; p = 4.41 × 10(-7)), 17p11.2 (rs7477, OR = 1.30; p = 2.89 × 10(-7)), and 19p13 (rs12608932, OR = 1.37, p = 1.29 × 10(-7)).
|
22959728 |
2013 |
rs3849942
|
|
A |
0.870 |
GeneticVariation |
GWASCAT |
In this analysis, two single nucleotide polymorphisms in a locus on chromosome 9p21.2 were associated with ALS: rs3849942 (p=2·22×10(-6); odds ratio [OR] 1·39, 95% CI 1·21-1·59) and rs2814707 (p=3·32×10(-6); 1·38, 1·20-1·58).
|
20801717 |
2010 |
rs3849942
|
|
A |
0.870 |
GeneticVariation |
GWASDB |
The other was detected in a 232 kb block of linkage disequilibrium (rs3849942, p=9·11×10(-11)) in a region of chromosome 9p that was previously identified in linkage studies of families with ALS.
|
20801718 |
2010 |