rs6499640
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.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (4)
▶Genetic variation of FTO: rs1421085 T>C, rs8057044 G>A, rs9939609 T>A, and copy number (CNV) in Mexican Mayan school‐aged children with obesity/overweight and with normal weightReviewLizbeth González‐Herrera et al.(2019)· American Journal of Human Biology
A literature review of 70 studies examining single nucleotide polymorphisms (SNPs) associated with obesity in Mexican populations published 2011-2021. The authors identified SNPs with differential behavior in Mexican compared to Caucasian populations, including rs17782313 (MC4R), rs6548238 (TMEM18), rs6265 (BDNF), rs7498665 (SH2B1), and notably rs6232 (PCSK1) associated with early-onset obesity in Mexican youth. The review emphasizes ethnicity-dependent genetic effects on BMI heritability (40-70%) and highlights genes involved in cholesterol metabolism and adipokine signaling pathways.
▶Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor statusAssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis
A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).
▶Common variants near BDNF and SH2B1 show nominal evidence of association with snacking behavior in European populationsAssociationN=14,000Sébastien Robiou-du-Pont et al.(2013)· Journal of Molecular Medicine
Genome-wide association study examining common variants near BDNF (rs6265, rs925946) and SH2B1 (rs7498665) in relation to snacking behavior across three European cohorts (French obese children, Swiss obese, D.E.S.I.R.). The study reports nominal evidence of association, with rs925946 in BDNF showing OR=1.21 (p=5.03×10⁻³) in the D.E.S.I.R. cohort and rs7498665 in SH2B1 showing OR=1.17 (p=9.57×10⁻³) in the Swiss cohort.
▶Association of genetic variants for susceptibility to obesity with type 2 diabetes in Japanese individualsAssociationN=18,264Takeuchi F. et al.(2011)· Diabetologia
Replication study of 14 obesity-associated SNPs from 13 loci in 18,264 Japanese participants, confirming associations at 11 loci including TMEM18 (rs4854344, p=7.1×10⁻⁷ for BMI), FTO, MC4R, BDNF, and others. Six obesity variants also associated with type 2 diabetes after BMI adjustment (OR 1.05-1.17), with FTO showing strong meta-analyzed association in East Asians (OR 1.13, p=7.8×10⁻¹⁰).
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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