rs55872725

This variant is located in the FTO gene.

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GWAS Catalog Trait Associations (28)

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

body mass index, osteoarthritis

Zhang L et al. “A sex- and site-specific relationship between body mass index and osteoarthritis: evidence from observational and genetic analyses.” Osteoarthritis and Cartilage 31(6):819-828 (2023)
Allele T
OR —
p —
N 1,633,524
Large GWAS
European

type 2 diabetes mellitus

Mahajan A et al. “Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.” Nature Genetics 54(5):560-572 (2022)
Allele T
OR 1.13
p 1.0e-108
N 492,192
Large GWAS
multi-ancestry

body weight

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.06
p 1.0e-63
N 165,419
Large GWAS
East Asian

Red cell distribution width

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.04
p 3.0e-60
N 380,796
Major Consortium StudyLarge GWAS
European

mean corpuscular hemoglobin concentration

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.04
p 5.0e-51
N 407,342
Major Consortium StudyLarge GWAS
European

appendicular lean mass

Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)
Allele T
OR 0.02
p 1.0e-32
N 450,243
Major Consortium StudyLarge GWAS
European

Agents acting on the renin-angiotensin system use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.06
p 1.0e-29
N 416,256
Large GWAS
multi-ancestry
Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele T
OR 0.06
p 8.0e-22
N 237,530
Major Consortium StudyLarge GWAS
European

skin disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.09
p 8.0e-29
N 608,310
Major Consortium StudyLarge GWAS
multi-ancestry

injury

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.06
p 1.0e-24
N 416,267
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter1 publication
View on ClinVar →

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.

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