rs11023332

This is a intron variant variant in the PDE3B gene.

▶

GWAS Catalog Trait Associations (2)

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

vitamin D level

Anderson D et al. “Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.” Genes and Immunity 15(8):578-83 (2014)

Allele C

OR 0.94

p 2.0e-10

N 1,853

Large GWAS

European

adiponectin measurement

Sarsani V et al. “A cross-ancestry genome-wide meta-analysis, fine-mapping, and gene prioritization approach to characterize the genetic architecture of adiponectin.” Hgg Advances 5(1):100252 (2024)

Allele C

OR 0.02

p 3.0e-8

N 46,434

Meta-analysisLarge GWAS

multi-ancestry

▶

Research that mentions this SNP (1)

▶

Genetic variation in the vitamin D related pathway and breast cancer risk in women of African ancestry in the root consortium

AssociationN=3,686Shengfeng Wang et al.(2018)· International Journal of Cancer

This study examined genetic variants in the vitamin D pathway using GWAS data from 3,686 women of African ancestry (1,657 cases). No significant associations were found between vitamin D pathway variants and breast cancer risk overall or by estrogen receptor status (pathway P > 0.5, SNP-level P adj > 0.2). Mendelian randomization analysis showed no association with genetically predicted 25(OH)D levels (P = 0.23). However, a nonsense variant rs41302073 in TYRP1 (pigment synthesis pathway) showed a 54% increased risk of breast cancer (OR = 1.54, 95% CI = 1.24-1.91, P adj = 0.007), warranting further investigation of non-vitamin D mechanisms.

Traits studied:25-hydroxyvitamin D levelsBreast cancerEstrogen receptor negative breast cancerEstrogen receptor positive breast cancerVitamin D status

PubMed DOI Metascience Observatory

About PDE3B

Enables 3',5'-cyclic-AMP phosphodiesterase activity. Involved in several processes, including negative regulation of angiogenesis; negative regulation of lipid catabolic process; and regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in membrane. Part of guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Jul 2025]