|
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 |
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 |
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
|
|
|
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 |
|
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 |
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
|
|
|
0.870 |
GeneticVariation |
BEFREE |
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 |
|
rs1541160
|
|
|
0.830 |
GeneticVariation |
BEFREE |
The incidence of the UMN-ALS phenotype in the CC patients of this cohort supports the hypothesis that the SNP rs1541160 within the KIFAP3 gene is a potential modifier of the ALS phenotype.
|
21659726 |
2011 |
|
rs1541160
|
|
|
0.830 |
GeneticVariation |
BEFREE |
In a previous large multicenter genome wide study, common genetic variation in the Kinesin-Associated Protein 3 (KIFAP3) gene (rs1541160) was reported to have a significant effect on survival in amyotrophic lateral sclerosis patients.
|
24838185 |
2014 |
|
rs1541160
|
|
|
0.830 |
GeneticVariation |
BEFREE |
It was recently reported that rs1541160 on chromosome 1q24.2 has a marked effect on survival of amyotrophic lateral sclerosis (ALS) patients by influencing KIFAP3 expression.
|
20566859 |
2010 |
|
rs2814707
|
|
|
0.830 |
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 |
|
rs2814707
|
|
|
0.830 |
GeneticVariation |
BEFREE |
In the joint analysis, which included samples from 4312 patients with ALS and 8425 control individuals, rs3849942 (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 |
|
rs2814707
|
|
|
0.830 |
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 |
|
rs10260404
|
|
|
0.820 |
GeneticVariation |
BEFREE |
We have attempted to replicate a recently reported association of polymorphism rs10260404, in the Dipeptidyl-peptidase 6 gene (DPP6), with susceptibility to amyotrophic lateral sclerosis (ALS) in a large independent Italian cohort of 904 cases and 1036 controls.
|
19525032 |
2011 |
|
rs10260404
|
|
|
0.820 |
GeneticVariation |
BEFREE |
The rs10260404 is not associated with ALS susceptibility in Chinese people with Han origin which may be due to ethnic differences.
|
20137488 |
2009 |
|
rs13048019
|
|
|
0.810 |
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 |
|
rs3113494
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Although no SNPs reached genome-wide significance in the discovery phase for either phenotype, three SNPs were statistically significant in the replication analysis of ALS outcome: rs6080539 (177 kb from PCSK2), rs7000234 (4 kb from ZNF704), and rs3113494 (13 kb from LOC100506746).
|
22470424 |
2012 |