| Geno
|
Mag
|
Summary
|
| (C;C)
|
1
|
(No longer associated with ALS risk)
|
| (C;T)
|
1
|
No longer thought to increase ALS risk
|
| (T;T)
|
1
|
No longer thought to increase ALS risk
|
rs6700125 is one of 6 SNPs found upstream of an (uncharacterized) gene known as FLJ10986 that were originally reported (in 2007) to be overrepresented in patients with sporadic amyotrophic lateral sclerosis (ALS).
A genome-wide association study of 1,152 ALS patients determined an allelic odds ratio of 1.38 for the rs6700125(T) allele (CI: 1.16-1.65, p=0.00032). The genotypic odds ratio presented were 1.76 (CI: 1.22-2.55) and 1.2 (CI: 0.83-1.73) for homozygotes and heterozygotes, respectively.[PMID 17671248]
- Note: this SNP is in strong linkage disequilibrium with rs6690993 (r2>0.8)
However, subsequent studies (some of which are cited below) in both Caucasians and Asian populations have in general failed to replicate this finding.
[PMID 19922138] A study involving a large case-control series from the Netherlands, Belgium, Sweden and Ireland (total: 1883 sporadic Caucasian ALS patients and 2063 controls) found no significant association between sporadic ALS and the six previously reported associated SNPs, including this one.
[PMID 19193627
] A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
[PMID 22795786] No association of five candidate genetic variants with amyotrophic lateral sclerosis in a Chinese population
[PMID 24439956] The single-nucleotide polymorphism rs6690993 in FGGY is not associated with amyotrophic lateral sclerosisin a large Chinese cohort
] A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
