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rs3923809

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2 1.9x risk for developing restless legs syndrome
(A;G) 1.5 Slightly increased risk of developing restless legs syndrome
(G;G) 1 Normal risk of developing restless legs syndrome
ReferenceGRCh38 38.1/141
Chromosome6
Position38473194
GeneBTBD9
is asnp
is mentioned by
dbSNPrs3923809
ebirs3923809
HLIrs3923809
Exacrs3923809
Varsomers3923809
Maprs3923809
PheGenIrs3923809
hapmaprs3923809
1000 genomesrs3923809
hgdprs3923809
ensemblrs3923809
gopubmedrs3923809
geneviewrs3923809
scholarrs3923809
googlers3923809
pharmgkbrs3923809
gwascentralrs3923809
openSNPrs3923809
23andMers3923809
23andMe allrs3923809
SNP Nexus

SNPshotrs3923809
SNPdbers3923809
MSV3drs3923809
GWAS Ctlgrs3923809
GMAF0.4031
Max Magnitude2
? (A;A) (A;G) (G;G) 28
This SNP, located in an intron of the BTBD9 gene, has a variant that is seen somewhat more frequently in individuals with restless legs syndrome. The risk allele is rs3923809(A); carriers of two such alleles, i.e. those with rs3923809(A;A) genotypes, are estimated to be 1.9 fold more likely to have restless legs syndrome than rs3923809(G;G) individuals. The authors of this study suggest that perhaps half of the cases of restless legs syndrome may involve the rs3923809 risk genotypes. [PMID 17634447]

Consistent with this finding, another report about rs3923809 links the (G) minor allele to a lower frequency of restless legs syndrome with an overall odds ratio of 0.57 (CI: 0.48-0.68). [PMID 17637780]

Note that 70-80% of all individuals in European populations carry one or two copies of the (A) major allele, yet restless legs syndrome is thought to affect less than 10% of all adults. Therefore, although an individual may be at higher risk based on their genotype, the genotype by itself certainly isn't able to predictably cause restless legs syndrome.

The association between rs3923809 and RLS has been replicated in three European populations, and shows the most consistent effect across populations of several SNPs studied.[PMID 19279021OA-icon.png]

The results of a 2013 study of Korean patients suggest that the role of BTBD9 in the pathogenesis of restless legs syndrome is more universal across populations than previously reported and more efforts should be focused on the role of epistasis in the genetic architecture of restless legs syndrome. A significant association was found for rs3923809 and rs9296249 in BTBD9. [PMID 24293752OA-icon.png]

GWAS
SNP rs3923809
PubMedID [PMID 17634447]
Condition Restless legs syndrome
Gene BTBD9
Risk Allele A
pValue 1.00E-017
OR 1.9
95% CI 1.50-2.20


OMIM611185
DescRESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6
Variant
Relatedalso

[PMID 19223043] Exploring the genetic link between RLS and ADHD




GET Evidence
rs3923809
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.390625
summary



[PMID 24293752OA-icon.png] Association of restless legs syndrome variants in Korean patients with restless legs syndrome.


[PMID 23361623] The BTBD9 gene may be associated with antipsychotic-induced restless legs syndrome in schizophrenia


[PMID 25142570OA-icon.png] Periodic leg movements during sleep are associated with polymorphisms in BTBD9, TOX3/BC034767, MEIS1, MAP2K5/SKOR1, and PTPRD


[PMID 26703954] Prevalence and determinants of periodic limb movements in the general population.