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{{ population diversity | geno1=(A;A) | geno2=(A;C) | geno3=(C;C) | CEU | 17.7 | 56.6 | 25.7 | HCB | 2.2 | 23.4 | 74.5 | JPT | 2.7 | 31.9 | 65.5 | YRI | 21.8 | 46.9 | 31.3 | ASW | 24.6 | 43.9 | 31.6 | CHB | 2.2 | 23.4 | 74.5 | CHD | 2.8 | 26.4 | 70.8 | GIH | 6.9 | 36.6 | 56.4 | LWK | 20.0 | 52.7 | 27.3 | MEX | 1.7 | 37.9 | 60.3 | MKK | 25.6 | 51.3 | 23.1 | TSI | 23.5 | 43.1 | 33.3 | HapMapRevision=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|18159244}} 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. {{GWAS Summary |SNP=rs8050136 |PubMedID=17463249 |Condition=Type 2 diabetes |Gene=FTO |Risk Allele=A |pValue=1.00E-012 |OR=1.17 |95CI=1.12-1.22 }} {{PMID Auto |PMID=19303973 |Title=RARRES2, encoding the novel adipokine chemerin, is a genetic determinant of disproportionate regional body fat distribution: a comparative magnetic resonance imaging study. }} {{PMID Auto |PMID=19056611 |Title=Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data }} {{PMID Auto GWAS |PMID=19079260 |Trait=Body mass index |Title=Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity |RiskAllele=A |Pval=1E-47 |OR=8.04 |ORtxt=[6.96-9.12] % SD }} {{PMID Auto GWAS |PMID=18372903 |Trait=Type 2 diabetes |Title=Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes |RiskAllele=A |Pval=0.0000069999999999999999 |OR=1.15 |ORtxt=[1.09-1.22] }} {{PMID Auto |PMID=19322589 |Title=Analysis of FTO gene variants with measures of obesity and glucose homeostasis in the IRAS Family Study }} {{PMID Auto |PMID=19543202 |Title=FTO Genotype Is Associated With Exercise Training-induced Changes in Body Composition }} {{PMID Auto GWAS |PMID=17463248 |Trait=Type 2 diabetes |Title=A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants |RiskAllele=A |Pval=1E-12 |OR=1.17 |ORtxt=[1.12-1.22] }} {{PMID Auto |PMID=19584900 |Title=Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany }} {{omim |desc=FAT MASS- AND OBESITY-ASSOCIATED GENE; FTO |id=610966 |rsnum=8050136 }} {{PMID Auto |PMID=19798072 |Title=FTO Genotype and the Weight Loss Benefits of Moderate Intensity Exercise }} {{PharmGKB |RSID=rs8050136 |Name_s= |Gene_s=FTO |Feature= |Evidence=PubMed ID:19079260; Web Resource:http://www.genome.gov/gwastudies/ |Annotation=GWAS results: Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (Initial Sample Size: 80,969 individuals; Replication Sample Size: 11,036 individuals); (Region: 16q12.2; Reported Gene(s): FTO; Risk Allele: rs8050136-A); (p-value= 5E-36).This variant is associated with Weight. |Drugs= |Drug Classes= |Diseases= |Curation Level=Non-Curated |PharmGKB Accession ID=PA164740169 }} {{PMID Auto |PMID=20061430 |Title=Obesity Susceptibility Genetic Variants Identified from Recent Genome-Wide Association Studies: Implications in a Chinese Population }} {{PMID Auto |PMID=19833889 |Title=Genetic heterogeneity in latent autoimmune diabetes is linked to various degrees of autoimmune activity: results from the Nord-Trøndelag Health Study }} {{PMID Auto |PMID=20337217 |Title=FTO polymorphisms are associated with obesity but not with diabetes in East Asian populations: a meta-analysis }} {{PMID Auto |PMID=20647405 |Title=No Association between FTO or HHEX and Endometrial Cancer Risk }} {{PharmGKB |RSID=rs8050136 |Name_s= |Gene_s=FTO |Feature= |Evidence=PubMed ID:17463249 |Annotation=rs8050136 is associated with susceptibility to Type 2 Diabetes. This association was identified in a UK case-control study and was replicated in another UK case-control cohort. |Drugs= |Drug Classes= |Diseases=Diabetes Mellitus, Type 2 |Curation Level=Curated |PharmGKB Accession ID=PA162191333 }} {{PharmGKB |RSID=rs8050136 |Name_s= |Gene_s=FTO |Feature= |Evidence=PubMed ID:17463248 |Annotation=In a large Finnish case-control GWAS, rs8050136 was found to be associated with susceptibility to Type 2 Diabetes. |Drugs= |Drug Classes= |Diseases=Diabetes Mellitus, Type 2 |Curation Level=Curated |PharmGKB Accession ID=PA162191358 }} {{PharmGKB |RSID=rs8050136 |Name_s= |Gene_s=FTO |Feature= |Evidence=PubMed ID:17463249; Web Resource:http://www.genome.gov/gwastudies/ |Annotation=GWAS Results: Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls; Risk Allele: rs8050136-A). |Drugs= |Drug Classes= |Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 2 |Curation Level=Non-Curated |PharmGKB Accession ID=PA162356618 }} {{PharmGKB |RSID=rs8050136 |Name_s= |Gene_s=FTO |Feature= |Evidence=PubMed ID:19079260; Web Resource:http://www.genome.gov/gwastudies/ |Annotation=GWAS results: Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (Initial Sample Size: 80,969 individuals; Replication Sample Size: 11,036 individuals); (Region: 16q12.2; Reported Gene(s): FTO; Risk Allele: rs8050136-A); (p-value= 1E-47).This variant is associated with Body mass index. |Drugs= |Drug Classes= |Diseases= |Curation Level=Non-Curated |PharmGKB Accession ID=PA164740147 }} {{PharmGKB |RSID=rs8050136 |Name_s= |Gene_s=FTO |Feature= |Evidence=PubMed ID:19056611; Web Resource:http://www.genome.gov/gwastudies/ |Annotation=GWAS results: Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data. (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls); (Region: 16q12.2; Reported Gene(s): FTO; Risk Allele: rs8050136-?); (p-value= 0.00000000000000002).This variant is associated with Type 2 diabetes. |Drugs= |Drug Classes= |Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 2 |Curation Level=Non-Curated |PharmGKB Accession ID=PA164740293 }} {{PMID Auto |PMID=21037323 |Title=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 Auto |PMID=21124985 |Title=Integrated Genetic and Epigenetic Analysis Identifies Haplotype-Specific Methylation in the FTO Type 2 Diabetes and Obesity Susceptibility Locus }} {{PMID Auto |PMID=21266646 |Title=Lifestyle Interaction With Fat Mass and Obesity-Associated (FTO) Genotype and Risk of Obesity in Apparently Healthy U.S. Women }} {{PMID Auto GWAS |PMID=21037115 |Trait=None |Title=Genome-Wide Association Analysis of Body Mass in Chronic Obstructive Pulmonary Disease |RiskAllele=A |Pval=4E-8 |OR=None |ORtxt=None }} {{PMID Auto GWAS |PMID=21706003 |Trait=None |Title=Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. |RiskAllele=C |Pval=3E-26 |OR=0.0600 |ORtxt=[NR] % decrease }} {{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=21868005 |Title=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 Auto |PMID=22051089 |Title=Associations of Obesity Genes with Obesity-related Outcomes in Multiethnic Children }} {{PMID Auto |PMID=22355368 |Title=Longitudinal Replication Studies of GWAS Risk SNPs Influencing Body Mass Index over the Course of Childhood and Adulthood }} {{PMID Auto |PMID=17786212 |Title=Heterogeneity in meta-analyses of genome-wide association investigations. }} {{PMID Auto |PMID=17928989 |Title=Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population. }} {{PMID Auto |PMID=18162508 |Title=Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population. }} {{PMID Auto |PMID=18224312 |Title=Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment. }} {{PMID Auto |PMID=18251005 |Title=Inverse relationship between obesity and FTO gene expression in visceral adipose tissue in humans. }} {{PMID Auto |PMID=18256137 |Title=Regulation of Fto/Ftm gene expression in mice and humans. }} {{PMID Auto |PMID=18335027 |Title=Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP. }} {{PMID Auto |PMID=18379722 |Title=Variations in the FTO gene are associated with severe obesity in the Japanese. }} {{PMID Auto |PMID=18423522 |Title=Estimating odds ratios in genome scans: an approximate conditional likelihood approach. }} {{PMID Auto |PMID=18426861 |Title=Association analysis of type 2 diabetes Loci in type 1 diabetes. }} {{PMID Auto |PMID=18443202 |Title=Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies. }} {{PMID Auto |PMID=18445669 |Title=Lack of association of fatness-related FTO gene variants with energy expenditure or physical activity. }} {{PMID Auto |PMID=18469204 |Title=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 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. }} {{PMID Auto |PMID=18535549 |Title=Impact of variation in the FTO gene on whole body fat distribution, ectopic fat, and weight loss. }} {{PMID Auto |PMID=18591388 |Title=Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. }} {{PMID Auto |PMID=18599522 |Title=FTO variants are associated with obesity in the Chinese and Malay populations in Singapore. }} {{PMID Auto |PMID=18689899 |Title=Exchangeable models of complex inherited diseases. }} {{PMID Auto |PMID=18694974 |Title=Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study. }} {{PMID Auto |PMID=18782870 |Title=Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008. }} {{PMID Auto |PMID=18787525 |Title=FTO polymorphisms are associated with obesity but not diabetes risk in postmenopausal women. }} {{PMID Auto |PMID=18852197 |Title=Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants. }} {{PMID Auto |PMID=18991055 |Title=Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population. }} {{PMID Auto |PMID=19002430 |Title=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 Auto |PMID=19008344 |Title=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 Auto |PMID=19074959 |Title=ATOM: a powerful gene-based association test by combining optimally weighted markers. }} {{PMID Auto |PMID=19096518 |Title=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 Auto |PMID=19161620 |Title=An open access database of genome-wide association results. }} {{PMID Auto |PMID=19207020 |Title=Meta-analysis in genome-wide association studies. }} {{PMID Auto |PMID=19323962 |Title=Genome-wide association studies in type 2 diabetes. }} {{PMID Auto |PMID=19341491 |Title=Genome-based prediction of common diseases: methodological considerations for future research. }} {{PMID Auto |PMID=19401414 |Title=Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population. }} {{PMID Auto |PMID=19460916 |Title=Genetic architecture of type 2 diabetes: recent progress and clinical implications. }} {{PMID Auto |PMID=19474294 |Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. }} {{PMID Auto |PMID=19478790 |Title=The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI. }} {{PMID Auto |PMID=19553259 |Title=Common body mass index-associated variants confer risk of extreme obesity. }} {{PMID Auto |PMID=19602701 |Title=Underlying genetic models of inheritance in established type 2 diabetes associations. }} {{PMID Auto |PMID=19741467 |Title=Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea. }} {{PMID Auto |PMID=19862325 |Title=PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population. }} {{PMID Auto |PMID=19931040 |Title=Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies. }} {{PMID Auto |PMID=20009087 |Title=Genetic variation at the FTO locus influences RBL2 gene expression. }} {{PMID Auto |PMID=20017965 |Title=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 Auto |PMID=20017978 |Title=Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study. }} {{PMID Auto |PMID=20018066 |Title=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 Auto |PMID=20049090 |Title=Association between type 2 diabetes loci and measures of fatness. }} {{PMID Auto |PMID=20080751 |Title=Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3. }} {{PMID Auto |PMID=20126254 |Title=Rare variants create synthetic genome-wide associations. }} {{PMID Auto |PMID=20127379 |Title=From monogenic to polygenic obesity: recent advances. }} {{PMID Auto |PMID=20144327 |Title=A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel. }} {{PMID Auto |PMID=20161779 |Title=Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort. }} {{PMID Auto |PMID=20377915 |Title=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 Auto |PMID=20381893 |Title=The genetics of obesity: FTO leads the way. }} {{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. }} {{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. }} {{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. }} {{PMID Auto |PMID=20509872 |Title=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 Auto |PMID=20532014 |Title=The epidemiology of diabetes in Korea: from the economics to genetics. }} {{PMID Auto |PMID=20694148 |Title=A genome-wide association study of the metabolic syndrome in Indian Asian men. }} {{PMID Auto |PMID=20712903 |Title=Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study. }} {{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=21147891 |Title=Genetic variants associated with persistent central obesity and the metabolic syndrome in a 12-year longitudinal study. }} {{PMID Auto |PMID=21175269 |Title=Genetic variations in the FTO gene are associated with type 2 diabetes and obesity in south Indians (CURES-79). }} {{PMID Auto |PMID=21278902 |Title=Genetic risk profiling for prediction of type 2 diabetes. }} {{PMID Auto |PMID=21283728 |Title=Genetic variants of diabetes risk and incident cardiovascular events in chronic coronary artery disease. }} {{PMID Auto |PMID=21283731 |Title=FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome. }} {{PMID Auto |PMID=21317302 |Title=FTO polymorphisms are associated with adult body mass index (BMI) and colorectal adenomas in African-Americans. }} {{PMID Auto |PMID=21445555 |Title=Association study of type 2 diabetes genetic susceptibility variants and risk of pancreatic cancer: an analysis of PanScan-I data. }} {{PMID Auto |PMID=22189543 |Title=Genetic variants in FTO associated with metabolic syndrome: a meta- and gene-based analysis. }} {{PMID Auto |PMID=22377712 |Title=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 |inheritance=unknown |quality_scores=Array |dbsnp_id=rs8050136 |overall_frequency_n=55 |overall_frequency_d=128 |overall_frequency=0.429688 |n_genomes=34 |n_genomes_annotated=0 |n_haplomes=45 |n_articles=2 |n_articles_annotated=1 |in_gwas=Y |in_pharmgkb=Y |autoscore=2 |webscore=N }} {{PMID Auto |PMID=23091647 |Title=Common Variants of FTO Are Associated with Childhood Obesity in a Cross-Sectional Study of 3,126 Urban Indian Children }} {{PMID Auto |PMID=23284729 |Title=Aerobic Fitness Does Not Modify the Effect of FTO Variation on Body Composition Traits }} {{PMID Auto |PMID=23512716 |Title=Association between obesity-related gene FTO and ADHD }} {{PMID Auto GWAS |PMID=23209189 |Trait=Type 2 diabetes |Title=Genome-wide association study for type 2 diabetes in indians identifies a new susceptibility locus at 2q21. |RiskAllele=A |Pval=6E-6 |OR=1.16 |ORtxt=[1.09-1.24] }} {{PMID Auto |PMID=22901973 |Title=Fat mass and obesity-associated gene polymorphisms do not affect metabolic response to hormone therapy in healthy postmenopausal women }} {{on chip | 23andMe v1}} {{on chip | 23andMe v2}} {{on chip | 23andMe v3}} {{on chip | Affy GenomeWide 6}} {{on chip | HumanOmni1Quad}} {{on chip | Illumina Human 1M}}
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