rs2908004

This is a protein-altering variant in the WNT16 gene.

▶

GWAS Catalog Trait Associations (2)

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

brain volume

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele A
OR 0.09
p 1.0e-21
N 22,138
Major Consortium StudyLarge GWAS
European

bone tissue density

Medina-Gomez C et al. “Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis.” Communications Biology 6(1):691 (2023)
Allele A
OR —
β 0.080
p 4.0e-16
N 43,832
Large GWAS
European
Kemp JP et al. “Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.” Plos Genetics 10(6):e1004423 (2014)
Allele A
OR 0.10
p 3.0e-11
N 9,416
Large GWAS
multi-ancestry
Zheng HF et al. “WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk.” Plos Genetics 8(7):e1002745 (2012)
Allele A
OR 0.16
p 1.0e-15
N 5,672
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
Missense polymorphisms of the WNT16 gene are associated with bone mass, hip geometry and fractures
AssociationN=1,083García-Ibarbia C. et al.(2013)· Osteoporosis International

Two missense polymorphisms of the WNT16 gene (rs2908004 and rs2707466) were associated with hip bone mineral density (BMD), femoral neck buckling ratio, and calcaneal ultrasound parameters in 1,083 postmenopausal women and elderly men. In individuals under 80 years old, rs2908004 was associated with decreased hip fracture risk (OR=0.50, p=0.03), confirming WNT16's role in bone mass regulation and osteoporotic fracture susceptibility.

Traits studied:Bone mineral densityCalcaneal ultrasound parametersFemoral neck geometryHip fracturesOsteoporosis
PubMedDOIMetascience Observatory

About WNT16

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It contains two transcript variants diverging at the 5' termini. These two variants are proposed to be the products of separate promoters and not to be splice variants from a single promoter. They are differentially expressed in normal tissues, one of which (variant 2) is expressed at significant levels only in the pancreas, whereas another one (variant 1) is expressed more ubiquitously with highest levels in adult kidney, placenta, brain, heart, and spleen. [provided by RefSeq, Jul 2008]

View all WNT16 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…