rs4626664

This is a intron variant variant in the PTPRD gene.

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GWAS Catalog Trait Associations (3)

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

systolic blood pressure

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 0.23
p 3.0e-15
N 1,164,961
Meta-analysisLarge GWAS
European

restless legs syndrome

Schormair B et al. “PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.” Nature Genetics 40(8):946-8 (2008)
Allele A
OR 1.44
p 6.0e-10
N 2,272
Large GWAS
European

diastolic blood pressure

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 0.14
p 5.0e-10
N 810,865
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (2)

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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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Family‐based and population‐based association studies validate PTPRD as a risk factor for restless legs syndrome
AssociationN=749Qinbo Yang et al.(2011)· Movement Disorders

This study validates PTPRD as a risk factor for restless legs syndrome (RLS) using both family-based and population-based association studies in an American Caucasian population. SNP rs1975197 in PTPRD showed significant association with RLS in sibling transmission disequilibrium test (P=0.015) and case-control analysis (P=0.0004, OR=1.68), demonstrating that this variant confers significant risk of RLS.

Traits studied:Restless Legs Syndrome
PubMedDOIMetascience Observatory

About PTPRD

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010]

View all PTPRD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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