{{Rsnum
|rsid=1421085
|Gene=FTO
|Chromosome=16
|position=53767042
|Orientation=plus
|GMAF=0.2479
|Gene_s=FTO
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Summary=obesity risk
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}
{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 19.5 | 53.1 | 27.4
| HCB | 2.2 | 23.4 | 74.5
| JPT | 3.6 | 31.2 | 65.2
| YRI | 0.0 | 11.6 | 88.4
| ASW | 0.0 | 21.1 | 78.9
| CHB | 2.2 | 23.4 | 74.5
| CHD | 2.8 | 25.0 | 72.2
| GIH | 6.9 | 41.6 | 51.5
| LWK | 0.0 | 3.6 | 96.4
| MEX | 1.7 | 34.5 | 63.8
| MKK | 0.6 | 24.7 | 74.7
| TSI | 26.5 | 44.1 | 29.4
| HapMapRevision=28
}}
[[rs1421085]] is a SNP located in the first intron of the [[FTO]] (fat mass and obesity associated) gene on chromosome 16. This SNP showed the most association with [[obesity]] in the original work by Dina et al {{PMID|17496892}}. Moreover, it is located in a conserved region.

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|OA=1
}}

However, in one study of 583 extremely obese women with several [[FTO]] SNPs, the strongest association was indeed with [[rs1421085]] (p=3.04x10<sup>-10</sup>, OR = 1.75, CI: 1.47-2.08).{{PMID|18218107|OA=1
}}

* Note: The three [[FTO]] SNPs, [[rs1421085]], [[rs17817449]], and [[rs9939609]], are in strong linkage disequilibrium (pairwise r<sup>2</sup>>0.97), and there are two primary haplotypes, C-G-A (42.0 %) and T-T-T (55.5 %). 

{{PMID|18719664}} This SNP is also associated with adult [[obesity]] in Mexicans.

{{PMID|19153581}} [[rs17782313]](C) more snacking, however [[rs1421085]](C) did not influence eating behavior

{{PMID|18551112}} [[rs1421085]](C) and [[rs17817449]](G) significantly associated with increased BMI. Our results suggest that FTO may be one of the worldwide obesity-risk genes.

{{ neighbor
| rsid = 9940128
| distance = 200
}}

{{PMID Auto GWAS
|PMID=19151714
|Trait=Obesity
|Title=Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations
|RiskAllele=C
|Pval=1E-28
|OR=1.39
|ORtxt=[1.27-1.51]
}}
{{PMID Auto
|PMID=19322589
|Title=Analysis of FTO gene variants with measures of obesity and glucose homeostasis in the IRAS Family Study
|OA=1
}}

{{omim
|desc=BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14
|id=612460
|rsnum=1421085
}}
{{PMID Auto
|PMID=19818665
|Title=Apolipoprotein E genotype is associated with serum C-reactive protein but not abdominal aortic aneurysm
}}

{{PharmGKB
|RSID=rs1421085
|Name_s=
|Gene_s=FTO
|Feature=
|Evidence=PubMed ID:19174833
|Annotation=The analyses of genome-wide association data from 1,380 Europeans with early-onset and morbid adult obesity and 1,416 age-matched normal-weight controls found a strong association of this variant in the first intron of FTO for risk of pooled childhood and adult severe obesity.
|Drugs=
|Drug Classes=
|Diseases=Obesity
|Curation Level=Curated
|PharmGKB Accession ID=PA162565809
}}

{{PMID Auto
|PMID=20373279
|Title=FTO Genotype and Weight Gain in Obese and Normal Weight Adults From a Norwegian Population Based Cohort (the HUNT Study)
}}
{{PMID Auto
|PMID=20502638
|Title=Risk of Type 2 Diabetes and Obesity Is Differentially Associated with Variation in FTO in Whites and African-Americans in the ARIC Study
|OA=1
}}

{{PharmGKB
|RSID=rs1421085
|Name_s=
|Gene_s=FTO
|Feature=
|Evidence=PubMed ID:18316358
|Annotation=The variant is significantly associated with several obesity-related phenotypes.
|Drugs=
|Drug Classes=
|Diseases=Obesity
|Curation Level=Curated
|PharmGKB Accession ID=PA161660932
}}

{{PharmGKB
|RSID=rs1421085
|Name_s=
|Gene_s=FTO
|Feature=
|Evidence=PubMed ID:19151714; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. (Initial Sample Size: 695 obese adults, 685 obese children, 731 lean adults, 685 lean children; Replication Sample Size: 1,171 obese adults, 896 obese children, 1,114 lean adults, 1,297 lean children, 4,417 adults, 5,291 children); (Region: 16q12.2; Reported Gene(s): FTO; Risk Allele: rs1421085-C); (p-value= 1E-28).This variant is associated with Obesity.
|Drugs=
|Drug Classes=
|Diseases=Obesity
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740067
}}
{{PMID Auto
|PMID=21248310
|Title=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
|OA=1
}}

{{PMID Auto
|PMID=21796137
|Title=Association of variations in the FTO, SCG3 and MTMR9 genes with metabolic syndrome in a Japanese population
}}

{{PMID Auto
|PMID=22590636
|Title=Prevalence and Determinants of Metabolic Syndrome among Women in Chinese Rural Areas
|OA=1
}}

{{PMID Auto
|PMID=17928949
|Title=FTO polymorphisms in oceanic populations.
}}

{{PMID Auto
|PMID=18159244
|Title=Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.
|OA=1
}}

{{PMID Auto
|PMID=18379722
|Title=Variations in the FTO gene are associated with severe obesity in the Japanese.
|OA=1
}}

{{PMID Auto
|PMID=18487448
|Title=Common variation in the fat mass and obesity-associated (FTO) gene confers risk of obesity and modulates BMI in the Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=18572014
|Title=FTO gene associates to metabolic syndrome in women with polycystic ovary syndrome.
}}

{{PMID Auto
|PMID=18599522
|Title=FTO variants are associated with obesity in the Chinese and Malay populations in Singapore.
|OA=1
}}

{{PMID Auto
|PMID=18647953
|Title=Fat mass-and obesity-associated (FTO) gene variant is associated with obesity: longitudinal analyses in two cohort studies and functional test.
|OA=1
}}

{{PMID Auto
|PMID=19079261
|Title=Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
|OA=1
}}

{{PMID Auto
|PMID=19255736
|Title=Combined effects of MC4R and FTO common genetic variants on obesity in European general populations.
}}

{{PMID Auto
|PMID=19557161
|Title=Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.
|OA=1
}}

{{PMID Auto
|PMID=20075150
|Title=Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.
|OA=1
}}

{{PMID Auto
|PMID=20080751
|Title=Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.
|OA=1
}}

{{PMID Auto
|PMID=20127379
|Title=From monogenic to polygenic obesity: recent advances.
|OA=1
}}

{{PMID Auto
|PMID=20381893
|Title=The genetics of obesity: FTO leads the way.
|OA=1
}}

{{PMID Auto
|PMID=20404173
|Title=A commonly carried allele of the obesity-related FTO gene is associated with reduced brain volume in the healthy elderly.
|OA=1
}}

{{PMID Auto
|PMID=20421936
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=20442772
|Title=Common SNPs in FTO gene are associated with obesity related anthropometric traits in an island population from the eastern Adriatic coast of Croatia.
|OA=1
}}

{{PMID Auto
|PMID=20703240
|Title=Polymorphisms in NRXN3, TFAP2B, MSRA, LYPLAL1, FTO and MC4R and their effect on visceral fat area in the Japanese population.
}}

{{PMID Auto
|PMID=21102551
|Title=Analysis of FTO gene variants with obesity and glucose homeostasis measures in the multiethnic Insulin Resistance Atherosclerosis Study cohort.
}}

{{PMID Auto
|PMID=21283731
|Title=FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome.
|OA=1
}}

{{PMID Auto
|PMID=21317302
|Title=FTO polymorphisms are associated with adult body mass index (BMI) and colorectal adenomas in African-Americans.
|OA=1
}}

{{PMID Auto
|PMID=21318054
|Title=Rs9939609 variant of the fat mass and obesity-associated gene and trunk obesity in adolescents.
|OA=1
}}

{{PMID Auto
|PMID=22187296
|Title=Variants of the FTO gene in obese children and their impact on body composition and metabolism before and after lifestyle intervention.
}}

{{PMID Auto
|PMID=22189543
|Title=Genetic variants in FTO associated with metabolic syndrome: a meta- and gene-based analysis.
|OA=1
}}

{{PMID Auto
|PMID=22513296
|Title=Obesity susceptibility loci and dietary intake in the Look AHEAD Trial.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1421085
|overall_frequency_n=37
|overall_frequency_d=128
|overall_frequency=0.289062
|n_genomes=22
|n_genomes_annotated=0
|n_haplomes=27
|n_articles=2
|n_articles_annotated=1
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23136261
|Title=Fat mass and obesity gene and cognitive decline: The Atherosclerosis Risk in Communities Study
|OA=1
}}

{{PMID Auto
|PMID=23342142
|Title=Association of FTO Polymorphisms with Obesity and Obesity-Related Outcomes in Portuguese Children.
|OA=1
}}
{{PMID Auto
|PMID=23341774
|Title=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
|OA=1
}}

{{PMID Auto GWAS
  |PMID=23636237
  |Trait=Dietary macronutrient intake
  |Title=Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake.
  |RiskAllele=C
  |Pval=1E-9
  |OR=.10
  |ORtxt=[0.061-0.139] % increase
  }}

{{PMID Auto
|PMID=24106974
|Title=Association between fat mass and obesity-associated (FTO) gene and hip fracture susceptibility
}}

{{PMID Auto GWAS
  |PMID=23563607
  |Trait=Obesity
  |Title=Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
  |RiskAllele=C
  |Pval=6E-39
  |OR=1.45
  |ORtxt=[NR]
  |OA=1
}}

{{PMID Auto GWAS
  |PMID=23563609
  |Trait=Obesity (early onset extreme)
  |Title=Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
  |RiskAllele=C
  |Pval=3E-28
  |OR=1.44
  |ORtxt=[1.35-1.54]
  }}

{{PMID Auto
|PMID=24348519
|Title=EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children
|OA=1
}}

{{PMID Auto
|PMID=22761283
|Title=Multigene interactions and the prediction of depression in the Wisconsin Longitudinal Study.
|OA=1
}}

{{PMID Auto
|PMID=22801903
|Title=Impact of FTO genotypes on BMI and weight in polycystic ovary syndrome: a systematic review and meta-analysis.
|OA=1
}}

{{PMID Auto
|PMID=23849767
|Title=Effects of FTO RS9939906 and MC4R RS17782313 on obesity, type 2 diabetes mellitus and blood pressure in patients with hypertension.
|OA=1
}}

{{PMID Auto
|PMID=24863145
|Title=FTO genotype and aging: pleiotropic longitudinal effects on adiposity, brain function, impulsivity and diet
}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}