rs2908007

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GWAS Catalog Trait Associations (6)

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

bone fracture

Nethander M et al. “An atlas of genetic determinants of forearm fracture.” Nature Genetics 55(11):1820-1830 (2023)
Allele A
OR 1.17
p 2.0e-174
N 1,020,094
Large GWAS
European
Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)
Allele A
OR 0.06
p 2.0e-92
N 426,795
Large GWAS
European
Trajanoska K et al. “Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study.” Bmj (clinical Research Ed.) 362:k3225 (2018)
Allele A
OR 1.06
p 2.0e-39
N 264,973
Large GWAS
multi-ancestry

velocity of sound measurement

Moayyeri A et al. “Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.” Human Molecular Genetics 23(11):3054-68 (2014)
Allele G
OR 0.15
p 2.0e-59
N 15,514
Meta-analysisMajor Consortium StudyLarge GWAS
multi-ancestry

upper extremity fracture

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.17
p 2.0e-22
N 448,695
Major Consortium StudyLarge GWAS
European

bone tissue density

Moayyeri A et al. “Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.” Human Molecular Genetics 23(11):3054-68 (2014)
Allele G
OR 0.14
p 1.0e-9
N 4,556
Meta-analysisMajor Consortium Study
European

ankle fracture, foot fracture

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.12
p 3.0e-26
N 441,661
Major Consortium StudyLarge GWAS
European

bone quantitative ultrasound measurement

Mullin BH et al. “Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation.” Human Molecular Genetics 26(14):2791-2802 (2017)
Allele G
OR 0.17
p 2.0e-48
N 16,627
Meta-analysisLarge GWAS
European
Moayyeri A et al. “Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.” Human Molecular Genetics 23(11):3054-68 (2014)
Allele G
OR 0.14
p 4.0e-35
N 14,260
Meta-analysisMajor Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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USF3modulates osteoporosis risk by targetingWNT16,RANKL,RUNX2, and two GWAS lead SNPs rs2908007 and rs4531631
FunctionalWeiyuan Ye et al.(2021)· Human Mutation

This study demonstrates that the transcription factor USF3 modulates osteoporosis risk by antagonistically regulating bone formation and resorption through multiple target genes. USF3 enhances osteoblast differentiation by promoting WNT16 and RUNX2 expression while suppressing osteoclastogenesis by inhibiting RANKL. The GWAS lead variants rs2908007 (WNT16 promoter) and rs4531631 (RANKL promoter) confer allele-specific binding and transactivation by USF3 and associated transcription factors, mechanistically linking genetic variation to osteoporosis susceptibility.

Traits studied:Bone mineral densityOsteoporosis
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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