|(C;C)||3.1||~1.7x increased obesity risk|
|(C;T)||2.5||~1.3x increased obesity risk|
|(T;T)||0.1||normal obesity risk|
[PMID 26287746] The rs1421085 T-to- C single-nucleotide alteration underlies the association between FTO and obesity by disrupting ARID5B-mediated repression of IRX3 and IRX5. This disruption leads to a developmental shift from browning to whitening programs and loss of mitochondrial thermogenesis
Within the FTO gene, many SNPs appear to be co-inherited. The SNP showing the strongest association with body weight (i.e. body mass index, BMI) is not rs1421085, although this SNP is one of co-inherited SNPs in the FTO gene region. For more information, refer to the FTO gene or the most studied of FTO SNPs, rs9930506. [PMID 17658951]
- Note: The three FTO SNPs, rs1421085, rs17817449, and rs9939609, are in strong linkage disequilibrium (pairwise r2>0.97), and there are two primary haplotypes, C-G-A (42.0 %) and T-T-T (55.5 %).
|Title||Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations|
|Odds Ratio||1.39 [1.27-1.51]|
[PMID 19322589] Analysis of FTO gene variants with measures of obesity and glucose homeostasis in the IRAS Family Study[PMID 19818665] Apolipoprotein E genotype is associated with serum C-reactive protein but not abdominal aortic aneurysm
[PMID 20373279] FTO Genotype and Weight Gain in Obese and Normal Weight Adults From a Norwegian Population Based Cohort (the HUNT Study)
[PMID 20502638] Risk of Type 2 Diabetes and Obesity Is Differentially Associated with Variation in FTO in Whites and African-Americans in the ARIC Study
[PMID 21248310] Examining Overweight and Obesity as Risk Factors for Common Mental Disorders Using Fat Mass and Obesity-Associated (FTO) Genotype-Instrumented Analysis: The Whitehall II Study, 1985-2004
[PMID 21796137] Association of variations in the FTO, SCG3 and MTMR9 genes with metabolic syndrome in a Japanese population
[PMID 22590636] Prevalence and Determinants of Metabolic Syndrome among Women in Chinese Rural Areas
[PMID 17928949] FTO polymorphisms in oceanic populations.
[PMID 18159244] Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.
[PMID 18379722] Variations in the FTO gene are associated with severe obesity in the Japanese.
[PMID 18487448] Common variation in the fat mass and obesity-associated (FTO) gene confers risk of obesity and modulates BMI in the Chinese population.
[PMID 18572014] FTO gene associates to metabolic syndrome in women with polycystic ovary syndrome.
[PMID 18599522] FTO variants are associated with obesity in the Chinese and Malay populations in Singapore.
[PMID 18647953] Fat mass-and obesity-associated (FTO) gene variant is associated with obesity: longitudinal analyses in two cohort studies and functional test.
[PMID 19079261] Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
[PMID 19255736] Combined effects of MC4R and FTO common genetic variants on obesity in European general populations.
[PMID 19557161] Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.
[PMID 20075150] Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.
[PMID 20080751] Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.
[PMID 20127379] From monogenic to polygenic obesity: recent advances.
[PMID 20381893] The genetics of obesity: FTO leads the way.
[PMID 20404173] A commonly carried allele of the obesity-related FTO gene is associated with reduced brain volume in the healthy elderly.
[PMID 20421936] Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.
[PMID 20442772] Common SNPs in FTO gene are associated with obesity related anthropometric traits in an island population from the eastern Adriatic coast of Croatia.
[PMID 20703240] Polymorphisms in NRXN3, TFAP2B, MSRA, LYPLAL1, FTO and MC4R and their effect on visceral fat area in the Japanese population.
[PMID 21102551] Analysis of FTO gene variants with obesity and glucose homeostasis measures in the multiethnic Insulin Resistance Atherosclerosis Study cohort.
[PMID 21283731] FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome.
[PMID 21317302] FTO polymorphisms are associated with adult body mass index (BMI) and colorectal adenomas in African-Americans.
[PMID 21318054] Rs9939609 variant of the fat mass and obesity-associated gene and trunk obesity in adolescents.
[PMID 22187296] Variants of the FTO gene in obese children and their impact on body composition and metabolism before and after lifestyle intervention.
[PMID 22189543] Genetic variants in FTO associated with metabolic syndrome: a meta- and gene-based analysis.
[PMID 22513296] Obesity susceptibility loci and dietary intake in the Look AHEAD Trial.
|qualified_impact||Insufficiently evaluated pathogenic|
[PMID 23136261] Fat mass and obesity gene and cognitive decline: The Atherosclerosis Risk in Communities Study
[PMID 23342142] Association of FTO Polymorphisms with Obesity and Obesity-Related Outcomes in Portuguese Children.
[PMID 23341774] A Systematic Mapping Approach of 16q12.2/FTO and BMI in More Than 20,000 African Americans Narrows in on the Underlying Functional Variation: Results from the Population Architecture using Genomics and Epidemiology (PAGE) Study
|Trait||Dietary macronutrient intake|
|Title||Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake.|
|Odds Ratio||.10 [0.061-0.139] % increase|
[PMID 24106974] Association between fat mass and obesity-associated (FTO) gene and hip fracture susceptibility
|Title||Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.|
|Odds Ratio||1.45 [NR]|
|Trait||Obesity (early onset extreme)|
|Title||Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.|
|Odds Ratio||1.44 [1.35-1.54]|
[PMID 24348519] EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children
[PMID 22761283] Multigene interactions and the prediction of depression in the Wisconsin Longitudinal Study.
[PMID 22801903] Impact of FTO genotypes on BMI and weight in polycystic ovary syndrome: a systematic review and meta-analysis.
[PMID 23849767] Effects of FTO RS9939906 and MC4R RS17782313 on obesity, type 2 diabetes mellitus and blood pressure in patients with hypertension.
[PMID 24863145] FTO genotype and aging: pleiotropic longitudinal effects on adiposity, brain function, impulsivity and diet
“Genetic associations with traits in 23andMe customers.” 23andMe White Paper.
[PMID 25074273] Association of obesity with rs1421085 and rs9939609 polymorphisms of FTO gene
[PMID 26935496] The Frequencies of Haplotypes of FTO Gene Variants and Their Association with the Distribution of Body Fat in Non-Obese Poles.
|CLNDBN||OBESITY (BMIQ14), SUSCEPTIBILITY TO|
|CLNSRC||OMIM Allelic Variant|
[PMID 28451524] Fat Mass and Obesity Associated Gene Polymorphism and the Risk of Polycystic Ovary Syndrome: A Meta-analysis.
[PMID 28585683] The age of developing diabetes and FTO polymorphisms (rs9939609, rs1421085, and rs9930506).