rs8047395

This is a intron variant variant in the FTO gene.

▶

GWAS Catalog Trait Associations (2)

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

body mass index

Fernández-Rhodes L et al. “Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium.” Hgg Advances 3(2):100099 (2022)

Allele A

OR 0.04

p 1.0e-12

N 56,161

Major Consortium StudyLarge GWAS

Hispanic or Latin American

periodontitis

Yu YH et al. “Candidate loci shared among periodontal disease, diabetes and bone density.” Frontiers in Endocrinology 13:1016373 (2022)

Allele A

OR 0.03

p 2.0e-12

N 506,596

Large GWAS

▶

Research that mentions this SNP (1)

▶

Analysis of FTO gene variants with measures of obesity and glucose homeostasis in the IRAS Family Study

AssociationN=2,028Maria R. Wing et al.(2009)· Human Genetics

Analysis of 27 FTO gene variants in 1,424 Hispanic Americans and 604 African Americans from the Insulin Resistance Atherosclerosis Family Study (IRASFS) found multiple SNPs associated with BMI, waist circumference, and subcutaneous adipose tissue (p-values 0.001-0.05 in Hispanics), confirming FTO's role in overall fat mass rather than visceral fat distribution. Key variants rs9939609, rs8050136, rs1121980, rs1421085, rs17817449, and rs3751812 showed consistent associations with adiposity measures, with effect sizes of 0.3-2.4 kg/m² per allele for BMI in Hispanic Americans.

Traits studied:Acute insulin responseBody mass index (BMI)Disposition indexFasting glucoseFasting insulinInsulin sensitivityObesitySubcutaneous adipose tissue (SAT)Visceral adipose tissue (VAT)Waist circumferenceWaist-hip ratio (WHR)

PubMed DOI Metascience Observatory

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]