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rs8050136

From SNPedia

Orientationplus
Stabilizedplus
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
Chromosome16
Position53782363
GeneFTO
is asnp
is mentioned by
dbSNPrs8050136
ebirs8050136
HLIrs8050136
Exacrs8050136
Varsomers8050136
Maprs8050136
PheGenIrs8050136
hapmaprs8050136
1000 genomesrs8050136
hgdprs8050136
ensemblrs8050136
gopubmedrs8050136
geneviewrs8050136
scholarrs8050136
googlers8050136
pharmgkbrs8050136
gwascentralrs8050136
openSNPrs8050136
23andMers8050136
23andMe allrs8050136
SNP Nexus

SNPshotrs8050136
SNPdbers8050136
MSV3drs8050136
GWAS Ctlgrs8050136
GMAF0.3384
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.

GWAS
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

OMIM610966
DescFAT MASS- AND OBESITY-ASSOCIATED GENE; FTO
Variant
Relatedalso
[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]
Trait
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]
Trait
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
rs8050136
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.429688
summary



[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.


[PMID 27905213] Hepatic, lipid and genetic factors associated with obesity: crosstalk with alcohol dependence?