rs288326

This is a variant in the FRZB gene that changes a arginine to an tryptophan.

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GWAS Catalog Trait Associations (5)

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

Secreted frizzled-related protein 3 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.60
p 5.0e-201
N 10,708
Large GWAS
European
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR 0.57
p 4.0e-55
N 3,301
Large GWAS
European
Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele A
OR 0.68
p 3.0e-39
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
Png G et al. “Mapping the serum proteome to neurological diseases using whole genome sequencing.” Nature Communications 12(1):7042 (2021)
Allele A
OR 0.88
p 3.0e-105
N 2,893
Large GWAS
European
Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele A
OR 0.70
p 9.0e-28
N 997
Small GWAS
multi-ancestry

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele A
OR 0.51
p 2.0e-55
N 5,363
Large GWAS
European
Hillary RF et al. “Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936.” Nature Communications 10(1):3160 (2019)
Allele A
OR 0.69
p 8.0e-19
N 750
Small GWAS
European

brain attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele A
OR 8.94
p 4.0e-19
N 33,748
Large GWAS
European

cerebral cortex area attribute

Shadrin AA et al. “Vertex-wise multivariate genome-wide association study identifies 780 unique genetic loci associated with cortical morphology.” Neuroimage 244:118603 (2021)
Allele A
OR —
p 8.0e-12
N 35,657
Large GWAS
European
van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele A
OR 6.72
p 2.0e-11
N 33,748
Large GWAS
European
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ClinVar annotation

Risk Factor
2 submitters1 publication

FRZB-related disorder; Osteoarthritis susceptibility 1 (OS1)

View on ClinVar →
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Research that mentions this SNP (3)

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Variant alleles of the Wnt antagonist FRZB are determinants of hip shape and modify the relationship between hip shape and osteoarthritis
AssociationN=1,052Julie C. Baker‐LePain et al.(2012)· Arthritis &amp; Rheumatism

A nested case-control study of 451 women with incident radiographic hip osteoarthritis (RHOA) and 601 controls from the Study of Osteoporotic Fractures found that FRZB rs288326 and rs7775 SNPs are associated with proximal femur shape (SSM Mode 2). Importantly, rs288326 showed a significant interaction with hip shape in predicting RHOA (p=0.022), with an odds ratio of 2.5 (95% CI 1.2-5.3) for the 4th quartile of Mode 2 in carriers of the variant allele.

Traits studied:Hip shapeRadiographic hip osteoarthritis
PubMedDOIMetascience Observatory
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A genome‐wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22
AssociationN=53,938Hanneke J. M. Kerkhof et al.(2010)· Arthritis &amp; Rheumatism

Genome-wide association study identifying 14,938 osteoarthritis cases and approximately 39,000 controls found that the C-allele of rs3815148 on chromosome 7q22 (near GPR22 gene) is associated with 1.14-fold increased risk of knee/hand OA (p=8×10⁻⁸) and 30% increased risk for knee OA progression. The same study identified rs10248619 and rs6088813 with secondary associations to OA.

Traits studied:Hand osteoarthritisHip osteoarthritisKnee osteoarthritisKnee osteoarthritis progressionOsteoarthritis
PubMedDOIMetascience Observatory
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Large‐scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand
Meta-analysisN=61,639Evangelou E. et al.(2009)· Arthritis &amp; Rheumatism

Large-scale meta-analysis of 14 collaborative studies examining associations between GDF5 rs143383, FRZB rs7775, and FRZB rs288326 polymorphisms with osteoarthritis (OA) of the hip, knee, and hand. GDF5 rs143383 showed strong association with knee OA (OR=1.15, P=9.4×10⁻⁷) with consistent effects across populations, but effects were heterogeneous for hip and hand OA. FRZB variants showed no significant overall effects on OA phenotypes.

Traits studied:Osteoarthritis of the handOsteoarthritis of the hipOsteoarthritis of the knee
PubMedDOIMetascience Observatory

About FRZB

The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [provided by RefSeq, Apr 2010]

View all FRZB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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