rs3923809

This is a intron variant variant in the BTBD9 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

restless legs syndrome

Tilch E et al. “ExomeChip-based rare variant association study in restless legs syndrome.” Sleep Medicine 94:26-30 (2022)
Allele A
OR 1.55
p 5.0e-28
N 9,012
Large GWAS
European
Stefansson H et al. “A genetic risk factor for periodic limb movements in sleep.” The New England Journal of Medicine 357(7):639-47 (2007)
Allele A
OR 1.90
p 1.0e-17
N 15,970
Large GWAS
European

insomnia measurement

Jansen PR et al. “Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.” Nature Genetics 51(3):394-403 (2019)
Allele A
OR 1.05
p 2.0e-8
N 1,331,010
Large GWAS
European

chronotype measurement

Jones SE et al. “Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms.” Nature Communications 10(1):343 (2019)
Allele G
OR 1.02
p 3.0e-8
N 449,734
Large GWAS
European
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Research that mentions this SNP (3)

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Association of genetic variants in migraineurs with and without restless legs syndrome
AssociationN=233Guan‐Yu Lin et al.(2020)· Annals of Clinical and Translational Neurology

Association study of 233 Taiwanese migraineurs examining SNP variants related to restless legs syndrome (RLS) comorbidity. Two SNPs reached genome-wide significance: rs77234324 in LGR6 (OR=8.978, P=2.57E-07) and rs79004933 in an intergenic region (OR=5.281, P=3.03E-07) were associated with RLS in migraineurs. Five additional SNPs (including rs4243475 in UTRN) were associated with RLS specifically in migraine without aura patients.

Traits studied:Chronic migraineEpisodic migraineMigraine with auraMigraine without auraRestless legs syndrome
PubMedDOIMetascience Observatory
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Prevalence and determinants of periodic limb movements in the general population
AssociationN=2,162José Haba‐Rubio et al.(2016)· Annals of Neurology

Population-based study of 2162 European adults assessing prevalence and genetic determinants of periodic limb movements during sleep (PLMS). PLMS with index >15/h was present in 28.6% of the population. Genome-wide association study and candidate gene analysis identified SNP rs3923809 in BTBD9 as showing genome-wide significant association (p=9.10e-10), with AA homozygotes showing almost threefold higher PLMS index than non-carriers. Additional significant associations found with rs3104788 (TOX3, p=1.98e-05) and rs2300478 (MEIS1, p=0.0452). In multivariate analysis, age, male gender, antidepressant use, RLS, and these three SNP variants were independent predictors of PLMSI >15/h.

Traits studied:Periodic limb movement disorder (PLMD)Periodic limb movements during sleep (PLMS)Restless legs syndrome (RLS)
PubMedDOIMetascience Observatory
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TheBTBD9gene may be associated with antipsychotic‐induced restless legs syndrome in schizophrenia
AssociationN=190Seung‐Gul Kang et al.(2013)· Human Psychopharmacology: Clinical and Experimental

A case-control study of 190 Korean schizophrenic patients examining the association between BTBD9 gene polymorphisms and antipsychotic-induced restless legs syndrome (RLS). The rs9357271 T allele showed significant association with RLS symptoms (p=0.004, OR=2.36), with dominant (p=0.001, OR=2.98) and heterozygous models (p=0.001, OR=3.19) also significant. The A-T haplotype (rs3923809-rs9357271) was more frequent in RLS patients (0.122 vs 0.041, p=0.007).

Traits studied:Antipsychotic-induced restless legs syndromeRestless legs syndromeSchizophrenia
PubMedDOIMetascience Observatory

About BTBD9

This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]

View all BTBD9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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