From SNPedia
| ? | (C;C) (C;T) (T;T) | 28 |
|---|
 |
, a SNP in the region of the
DPP6 gene on chromosome 7, has been associated with the sporadic form of
ALS (Lou Gehrig's disease) in a study of 1000+ European patients. The overall odds ratio for the risk allele
rs10260404(C) is 1.30 (CI: 1.18-1.43, p=0.017). When broken down by genotype, the odds ratios for heterozygotes are 1.20 (CI: 1.06-1.41), and for
rs10260404(C;C) homozygotes, 1.60 (CI: 1.32-1.92).[
PMID 18084291]
A "C-C" haplotype for this SNP and that of it's neighbor rs10239794 is also highly (statistically; p=10e-9) associated with ALS. [PMID 18084291]
However, in an expanded study pooling 4 populations (Irish, Dutch, US, Polish) rs10260404 failed to reach Bonferroni significance. although it did remain significant in the (expanded) Irish-only population.[PMID 18987618]
| PharmGKB | PA164740748 |
| Name | |
| Annotation | GWAS results: Screening for replication of genome-wide SNP associations in sporadic AL. (Initial Sample Size: 958 cases, 932 controls; Replication Sample Size: 309 cases, 404 controls); (Region: 7q36.2; Reported Gene(s): DPP6; Risk Allele: rs10260404-C); (p-value= 0.000003).This variant is associated with Amyotrophic lateral sclerosis. |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:18987618; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Amyotrophic Lateral Sclerosis |
| Curation Level | Non-Curated |
| PharmGKB | PA161889380 |
| Name | |
| Annotation | In a GWAS, this SNP in the DPP6 gene was strongly associated with susceptibility to amyotrophic lateral sclerosis (ALS). |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:18084291 |
| Drugs | |
| Diseases | Amyotrophic Lateral Sclerosis |
| Curation Level | Curated |
| PharmGKB | PA162356390 |
| Name | |
| Annotation | GWAS results: A genome-wide association study of sporadic ALS in a homogenous Irish population (Initial Sample Size: 221 cases, 211 controls; Replication Sample Size: 737 cases, 721 controls). This variant is associated with Amyotrophic lateral sclerosis. |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:18057069; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Amyotrophic Lateral Sclerosis |
| Curation Level | Non-Curated |
| PharmGKB | PA162356702 |
| Name | |
| Annotation | GWAS Results: Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis (Initial Sample Size: 737 cases, 721 controls; Replication Sample Size: 1,030 cases, 1,195 controls; Risk Allele: rs10260404-C). |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:18084291; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Amyotrophic Lateral Sclerosis |
| Curation Level | Non-Curated |
