rs2272302

This variant is located in the SOAT2 gene.

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GWAS Catalog Trait Associations (1)

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

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Research that mentions this SNP (1)

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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

About SOAT2

Summary:This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. The cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The enzyme is implicated in cholesterol absorption in the intestine and in the assembly and secretion of apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]

View all SOAT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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