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From SNPedia

Geno Mag Summary
(A;A) 1.4 1.4x increased risk for T2D in some populations
(A;C) 1.2 1.2x increased risk for T2D in some populations
(C;C) 0 normal
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs8050136
23andMe allrs8050136
SNP Nexus

GWAS Ctlgrs8050136
Max Magnitude1.4
? (A;A) (A;C) (C;C) 28

This SNP is in a linkage block in the FTO gene with rs1121980; see rs1121980 for the association of this block with early onset obesity since it showed the strongest association.[PMID 18159244OA-icon.png]

This SNP did not show any association with obesity, type-2 diabetes or any other related traits in a study of 3,210 Chinese subjects. Furthermore, the minor allele frequency was much lower in Chinese populations compared to populations of European descent.[PMID 17959933]

However, a more recent study of 4,189 Chinese Han subjects combined with a meta-analysis of published studies concluded that rs8050136(A) was associated with both increased risk for type-2 diabetes and obesity.[PMID 20057365]

[PMID 19053021] rs8050136 associated with increased food intake, but not of impaired energy expenditure.

SNP rs8050136
PubMedID [PMID 17463249OA-icon.png]
Condition Type 2 diabetes
Gene FTO
Risk Allele A
pValue 1.00E-012
OR 1.17
95% CI 1.12-1.22

[PMID 19303973] RARRES2, encoding the novel adipokine chemerin, is a genetic determinant of disproportionate regional body fat distribution: a comparative magnetic resonance imaging study.

[PMID 19056611OA-icon.png] Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data

GWAS snp
PMID [PMID 19079260]
Trait Body mass index
Title Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity
Risk Allele A
P-val 1E-47
Odds Ratio 8.04 [6.96-9.12] % SD
GWAS snp
PMID [PMID 18372903OA-icon.png]
Trait Type 2 diabetes
Title Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
Risk Allele A
P-val 0.0000069999999999999999
Odds Ratio 1.15 [1.09-1.22]

[PMID 19322589OA-icon.png] Analysis of FTO gene variants with measures of obesity and glucose homeostasis in the IRAS Family Study

[PMID 19543202OA-icon.png] FTO Genotype Is Associated With Exercise Training-induced Changes in Body Composition

GWAS snp
PMID [PMID 17463248OA-icon.png]
Trait Type 2 diabetes
Title A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
Risk Allele A
P-val 1E-12
Odds Ratio 1.17 [1.12-1.22]

[PMID 19584900OA-icon.png] Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany

[PMID 19798072OA-icon.png] FTO Genotype and the Weight Loss Benefits of Moderate Intensity Exercise

[PMID 20061430] Obesity Susceptibility Genetic Variants Identified from Recent Genome-Wide Association Studies: Implications in a Chinese Population

[PMID 19833889OA-icon.png] Genetic heterogeneity in latent autoimmune diabetes is linked to various degrees of autoimmune activity: results from the Nord-Trøndelag Health Study

[PMID 20337217] FTO polymorphisms are associated with obesity but not with diabetes in East Asian populations: a meta-analysis

[PMID 20647405OA-icon.png] No Association between FTO or HHEX and Endometrial Cancer Risk

[PMID 21037323OA-icon.png] Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-associated (FTO) and retinitis pigmentosa gtpase regulator interacting protein-1 like (RPGRIPIL) genes, and co-ordinates leptin receptor signaling

[PMID 21124985OA-icon.png] Integrated Genetic and Epigenetic Analysis Identifies Haplotype-Specific Methylation in the FTO Type 2 Diabetes and Obesity Susceptibility Locus

[PMID 21266646OA-icon.png] Lifestyle Interaction With Fat Mass and Obesity-Associated (FTO) Genotype and Risk of Obesity in Apparently Healthy U.S. Women

GWAS snp
PMID [PMID 21037115OA-icon.png]
Title Genome-Wide Association Analysis of Body Mass in Chronic Obstructive Pulmonary Disease
Risk Allele A
P-val 4E-8
Odds Ratio None None
GWAS snp
PMID [PMID 21706003OA-icon.png]
Title Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.
Risk Allele C
P-val 3E-26
Odds Ratio 0.0600 [NR] % decrease

[PMID 21796137] Association of variations in the FTO, SCG3 and MTMR9 genes with metabolic syndrome in a Japanese population

[PMID 21868005] Variations in the fat mass and obesity-associated (FTO) gene are related to glucose levels and higher lipid accumulation product in postmenopausal women from southern Brazil

[PMID 22051089OA-icon.png] Associations of Obesity Genes with Obesity-related Outcomes in Multiethnic Children

[PMID 22355368OA-icon.png] Longitudinal Replication Studies of GWAS Risk SNPs Influencing Body Mass Index over the Course of Childhood and Adulthood

[PMID 17786212OA-icon.png] Heterogeneity in meta-analyses of genome-wide association investigations.

[PMID 17928989] Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population.

[PMID 18162508] Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population.

[PMID 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.

[PMID 18251005] Inverse relationship between obesity and FTO gene expression in visceral adipose tissue in humans.

[PMID 18256137OA-icon.png] Regulation of Fto/Ftm gene expression in mice and humans.

[PMID 18335027OA-icon.png] Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP.

[PMID 18379722OA-icon.png] Variations in the FTO gene are associated with severe obesity in the Japanese.

[PMID 18423522OA-icon.png] Estimating odds ratios in genome scans: an approximate conditional likelihood approach.

[PMID 18426861OA-icon.png] Association analysis of type 2 diabetes Loci in type 1 diabetes.

[PMID 18443202OA-icon.png] Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies.

[PMID 18445669] Lack of association of fatness-related FTO gene variants with energy expenditure or physical activity.

[PMID 18469204OA-icon.png] Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians.

[PMID 18487448OA-icon.png] Common variation in the fat mass and obesity-associated (FTO) gene confers risk of obesity and modulates BMI in the Chinese population.

[PMID 18535549] Impact of variation in the FTO gene on whole body fat distribution, ectopic fat, and weight loss.

[PMID 18591388OA-icon.png] Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.

[PMID 18599522OA-icon.png] FTO variants are associated with obesity in the Chinese and Malay populations in Singapore.

[PMID 18689899OA-icon.png] Exchangeable models of complex inherited diseases.

[PMID 18694974OA-icon.png] Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.

[PMID 18782870OA-icon.png] Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008.

[PMID 18787525OA-icon.png] FTO polymorphisms are associated with obesity but not diabetes risk in postmenopausal women.

[PMID 18852197OA-icon.png] Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.

[PMID 18991055] Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population.

[PMID 19002430] Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population.

[PMID 19008344OA-icon.png] Association analysis of variation in/near FTO, CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, LOC387761, and CDKN2B with type 2 diabetes and related quantitative traits in Pima Indians.

[PMID 19074959OA-icon.png] ATOM: a powerful gene-based association test by combining optimally weighted markers.

[PMID 19096518OA-icon.png] Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.

[PMID 19161620OA-icon.png] An open access database of genome-wide association results.

[PMID 19207020OA-icon.png] Meta-analysis in genome-wide association studies.

[PMID 19323962OA-icon.png] Genome-wide association studies in type 2 diabetes.

[PMID 19341491OA-icon.png] Genome-based prediction of common diseases: methodological considerations for future research.

[PMID 19401414OA-icon.png] Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.

[PMID 19460916OA-icon.png] Genetic architecture of type 2 diabetes: recent progress and clinical implications.

[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

[PMID 19478790OA-icon.png] The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI.

[PMID 19553259OA-icon.png] Common body mass index-associated variants confer risk of extreme obesity.

[PMID 19602701OA-icon.png] Underlying genetic models of inheritance in established type 2 diabetes associations.

[PMID 19741467] Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea.

[PMID 19862325OA-icon.png] PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.

[PMID 19931040OA-icon.png] Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.

[PMID 20009087OA-icon.png] Genetic variation at the FTO locus influences RBL2 gene expression.

[PMID 20017965OA-icon.png] Identifying association under a previous linkage peak on chromosome 16 for body mass index using cross-sectional and longitudinal data of the Framingham Heart Study.

[PMID 20017978OA-icon.png] Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.

[PMID 20018066OA-icon.png] Epistatic interactions of CDKN2B-TCF7L2 for risk of type 2 diabetes and of CDKN2B-JAZF1 for triglyceride/high-density lipoprotein ratio longitudinal change: evidence from the Framingham Heart Study.

[PMID 20049090OA-icon.png] Association between type 2 diabetes loci and measures of fatness.

[PMID 20080751OA-icon.png] Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.

[PMID 20126254OA-icon.png] Rare variants create synthetic genome-wide associations.

[PMID 20127379OA-icon.png] From monogenic to polygenic obesity: recent advances.

[PMID 20144327OA-icon.png] A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.

[PMID 20161779OA-icon.png] Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.

[PMID 20377915OA-icon.png] FTO variant rs9939609 is associated with body mass index and waist circumference, but not with energy intake or physical activity in European- and African-American youth.

[PMID 20381893OA-icon.png] The genetics of obesity: FTO leads the way.

[PMID 20421936OA-icon.png] 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 20442772OA-icon.png] Common SNPs in FTO gene are associated with obesity related anthropometric traits in an island population from the eastern Adriatic coast of Croatia.

[PMID 20502638OA-icon.png] Risk of type 2 diabetes and obesity is differentially associated with variation in FTO in whites and African-Americans in the ARIC study.

[PMID 20509872OA-icon.png] Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population.

[PMID 20532014OA-icon.png] The epidemiology of diabetes in Korea: from the economics to genetics.

[PMID 20694148OA-icon.png] A genome-wide association study of the metabolic syndrome in Indian Asian men.

[PMID 20712903OA-icon.png] Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.

[PMID 21102551OA-icon.png] Analysis of FTO gene variants with obesity and glucose homeostasis measures in the multiethnic Insulin Resistance Atherosclerosis Study cohort.

[PMID 21147891] Genetic variants associated with persistent central obesity and the metabolic syndrome in a 12-year longitudinal study.

[PMID 21175269] Genetic variations in the FTO gene are associated with type 2 diabetes and obesity in south Indians (CURES-79).

[PMID 21278902OA-icon.png] Genetic risk profiling for prediction of type 2 diabetes.

[PMID 21283728OA-icon.png] Genetic variants of diabetes risk and incident cardiovascular events in chronic coronary artery disease.

[PMID 21283731OA-icon.png] FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome.

[PMID 21317302OA-icon.png] FTO polymorphisms are associated with adult body mass index (BMI) and colorectal adenomas in African-Americans.

[PMID 21445555] Association study of type 2 diabetes genetic susceptibility variants and risk of pancreatic cancer: an analysis of PanScan-I data.

[PMID 22189543OA-icon.png] Genetic variants in FTO associated with metabolic syndrome: a meta- and gene-based analysis.

[PMID 22377712] Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.

GET Evidence
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.429688

[PMID 23091647OA-icon.png] Common Variants of FTO Are Associated with Childhood Obesity in a Cross-Sectional Study of 3,126 Urban Indian Children

[PMID 23284729OA-icon.png] Aerobic Fitness Does Not Modify the Effect of FTO Variation on Body Composition Traits

[PMID 23512716] Association between obesity-related gene FTO and ADHD

GWAS snp
PMID [PMID 23209189OA-icon.png]
Trait Type 2 diabetes
Title Genome-wide association study for type 2 diabetes in indians identifies a new susceptibility locus at 2q21.
Risk Allele A
P-val 6E-6
Odds Ratio 1.16 [1.09-1.24]

[PMID 22901973] Fat mass and obesity-associated gene polymorphisms do not affect metabolic response to hormone therapy in healthy postmenopausal women

[PMID 23820787OA-icon.png] Association of the FTO Obesity Risk Variant rs8050136 With Percentage of Energy Intake From Fat in Multiple Racial/Ethnic Populations: The PAGE Study

[PMID 23990951OA-icon.png] Association of genetic variants with isolated fasting hyperglycaemia and isolated postprandial hyperglycaemia in a han chinese population

[PMID 24348519OA-icon.png] EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children

[PMID 22847851] Insulin resistant phenotype of polycystic ovary syndrome does not seem to be caused by variation in FTO.

[PMID 22956599OA-icon.png] Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data.

[PMID 23298195] Association study of genetic variants of 17 diabetes-related genes/loci and cardiovascular risk and diabetic nephropathy in the Chinese She population.

[PMID 23300277OA-icon.png] The influence of obesity-related single nucleotide polymorphisms on BMI across the life course: the PAGE study.

[PMID 23334806OA-icon.png] Systematic identification of interaction effects between genome- and environment-wide associations in type 2 diabetes mellitus.

[PMID 23460509] Replication of genetic effects of MC4R polymorphisms on body mass index in a Korean population.

[PMID 24911064OA-icon.png] Association of FTO Polymorphisms with Obesity and Metabolic Parameters in Han Chinese Adolescents

[PMID 25177340OA-icon.png] Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index

[PMID 25592819] FTO gene variants are not associated with polycystic ovary syndrome in women from Southern Brazil

[PMID 26309651] Correlation between polymorphism of FTO gene and type 2 diabetes mellitus in Uygur people from northwest China

[PMID 27274759] Interaction between FTO gene variants and lifestyle factors on metabolic traits in an Asian Indian population.

[PMID 27600277] Interaction between the obesity-risk gene FTO and the dopamine D2 receptor gene ANKK1/TaqIA on insulin sensitivity.