rs9296249

This is a intron variant variant in the BTBD9 gene.

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GWAS Catalog Trait Associations (1)

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

restless legs syndrome

Winkelmann J et al. “Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.” Nature Genetics 39(8):1000-6 (2007)
Allele T
OR 1.67
p 4.0e-18
N 2,045
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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Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.
ReviewMarta Sánchez Delgado et al.(2014)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This review examines the genetic and epigenetic basis of Tourette Syndrome (TS), a neurodevelopmental disorder with high heritability (0.45-0.77). The paper reviews candidate gene associations including variants in SLITRK1 (rs9593835, rs9546538, rs9531520), DRD2/ANKK1 (rs1800497), ADORA1/ADORA2A (rs2228079, rs5751876), and other dopaminergic genes, along with a large GWAS in 1285 cases and 4964 controls highlighting rs7868992 in COL27A1. The review proposes that epigenetic mechanisms (DNA methylation, histone modifications, non-coding RNAs) may link genetic susceptibility with environmental factors in TS pathogenesis.

Traits studied:Gilles de la Tourette SyndromeTic disordersTicsTourette Syndrome
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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