rs8043757

This variant is located in the FTO gene.

▶

GWAS Catalog Trait Associations (6)

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

obesity

Berndt SI et al. “Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.” Nature Genetics 45(5):501-12 (2013)
Allele T
OR 1.23
p 5.0e-110
N 204,498
Meta-analysisLarge GWAS
European

type 2 diabetes mellitus

Elashi AA et al. “Genome-wide association study and trans-ethnic meta-analysis identify novel susceptibility loci for type 2 diabetes mellitus.” Bmc Medical Genomics 17(1):115 (2024)
Allele T
OR 0.11
p 5.0e-92
N 6,710,881
Meta-analysisLarge GWAS
multi-ancestry

cholesteryl esters to total lipids in small LDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.01
p 1.0e-10
N 450,015
Large GWAS
multi-ancestry

leptin measurement

Kilpeläinen TO et al. “Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels.” Nature Communications 7:10494 (2016)
Allele T
OR 0.03
p 1.0e-9
N 35,292
Meta-analysisLarge GWAS
European

About FTO

This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]

View all FTO 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…