rs2272296

▶

GWAS Catalog Trait Associations (1)

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

cholesteryl esters:total lipids ratio, intermediate density lipoprotein measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 2.0e-12
N 136,016
Large GWAS
multi-ancestry
▶

Research that mentions this SNP (1)

▶
Whole‐exome sequencing and genome‐wide association studies identify novel sarcopenia risk genes in Han Chinese
AssociationN=217,923Shu Ran et al.(2020)· Molecular Genetics &amp; Genomic Medicine

Whole-exome sequencing in 101 Han Chinese subjects identified four SNPs significantly associated with whole lean body mass (WLBM), a heritable trait predicting sarcopenia: rs740681 in FZR1 (discovery p=1.66×10⁻⁶, replication p=0.05) and three SNPs in SOAT2 (rs2272303, rs11170413, rs2272302; p-values 3.20×10⁻⁴ to 9.13×10⁻⁴ in discovery, 2.90×10⁻⁴ to 3.10×10⁻⁴ in replication). Replication was performed in UK Biobank (N=217,822). Combined meta-analysis p-values ranged from 1.24×10⁻⁵ to 3.67×10⁻⁵, suggesting FZR1 and SOAT2 as novel sarcopenia risk genes with pleiotropic effects on body mass.

Traits studied:Lean body massSarcopeniaSkeletal muscle massWhole lean body mass (WLBM)
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.

Community Wiki

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

Comments

Sign in to join the discussion.

Loading comments…