| Geno
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Mag
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Summary
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| (A;A)
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(no longer associated with ALS risk change)
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| (A;G)
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No longer associated with ALS risk
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| (G;G)
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No longer associated with ALS risk
|
rs6690993 is one of 6 SNPs found upstream of an (uncharacterized) gene known as FLJ10986 that were originally reported (in 2007) as being 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 1.35 for the rs6690993(G) allele (CI: 1.13-1.62, p=3x10-4). This association was seen only in Caucasians upon replication and not in non-Caucasians. The genotypic odds ratio presented were 1.69 (CI: 1.16-2.47) and 1.2 (CI: 0.81-1.71) for homozygotes and heterozygotes, respectively.[PMID 17671248]
- Note: this SNP is in strong linkage disequilibrium with rs6700125 (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 ALS patients and 2063 controls) found no significant association between sporadic ALS and the six previously reported associated SNPs, including this one.
[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 sclerosis in a large Chinese cohort
